Professor Catherine Alix-Panabières received her PhD degree in 1998 at the Institute of Virology, University Louis Pasteur, in Strasbourg in France. In 1999, she moved to Montpellier where she did a postdoctoral research at the University Medical Centre. Since 2022, she is also Visiting Professor at the University of Hamburg in Germany. During this last decade, Prof Alix-Panabières has focused on optimizing new techniques of enrichment, detection and characterization of viable circulating tumor cells (CTCs) in patients with solid tumors. She is the expert for the EPISPOT technology that is used to detect viable CTCs in patients with breast, prostate, colon, head & neck cancer and melanoma. This technology has been recently improved to detect functional CTCs at the single cell level. Profs Catherine Alix-Panabières & Pantel coined for the first time the term ‘Liquid Biopsy’ in 2010 (Trends Mol Med).

In 2010, she achieved getting a permanent position at the Hospital and at the Faculty of Medicine of Montpellier (MCU-PH). As an associate professor, she became the new director of the Laboratory of Rare Human Circulating Cells (LCCRH) in the Department of Pathology and Onco-Biology.
In this unique platform LCCRH, they isolate, detect and characterize circulating tumor cells using combinations many technologies. She organized and co-organized many international meetings on liquid biopsy (3 ISMRC), several major Symposium on liquid biopsy at the AACR, ESMO. She has authored or co-authored >135 scientific publications in this field during the last years (h index: 57; 15,767 citations) and 15 book chapters, she is the inventor of three patents in the liquid biopsy field and she is part of French national projects as well as in many European ones. She has many collaborations in Europe, America and Asia. More importantly, she demonstrated for the first time the clinical utility of CTCs in breast cancer in the French STIC-METABREAST group. Finally, she is the expert in the establishment of many permanent CTC lines, in colon and breast cancer.

It was a great honor for her to receive the Gallet et Breton Cancer Prize, the highest honor conferred by the French Academy of Medicine in November 2012 and, very recently, the 2017 AACR Award for the most cited scientific article in 2015 (Cayrefourcq et al. Cancer Res).
In October 2021, she received the International Liquid Biopsy Society (ISLB) Award for her Lifetime Achievement as well as the prestigious Alexandr Savchuk Award in January 2022, during the ‘15ème biennale Monégasque de Cancérologie’, both in consideration of her huge contribution in the field during her career and her commitment in the development of the liquid biopsy research.
In September 2022, she was a key partner in the huge exhibition on CANCER led by Prof Alain Eychène, Director of Research at the French National Institute of Cancer (INCa). This event takes place at ‘La Cité des Sciences et de l’Industrie’ in Paris. After 12 months in France, this exhibition will travel to different European countries.

The prestigious Journal Nature in its edition of December 2020 recognized Liquid biopsy as a key discovery in cancer research in the last 20 years and identified her as a nature advisor.
Moreover, for its 10th anniversary, the Journal Cancer Discovery edited a special issue for which only 14 teams were selected worldwide: the recent article “Alix-Panabières & Pantel. Liquid Biopsy: From Discovery to Clinical Application. Cancer Discov. Avril 2021” is a clear sign of her visibility in this field of expertise.

Dr. Behrooz Z. Alizadeh is an MD, and specialist in genetic epidemiology who obtained his MD from TUMS Tehran (1997), graduated in MSc (2001) and DSc (2002) degree from NIHES, Rotterdam, his Ph.D. from EMC-EU, Rotterdam (2005), and completed his postdoctoral fellowship in functional ImmunoGenomics at UMC Utrecht (2007). Since 2009, he is a staff member of the department of epidemiology acting as the head of the Unit of personalized medicine (2016) and is a member of the board of several research and/or educational programs and committees at UMCG Groningen, at METC UMCG (2012), and scientific international institutions. He holds visiting professor positions at several universities and is leading several (inter)national research projects (eg. MinldLines, GROUP, RadioGenomics, ARAS, CHARGE). During the 17 years of his professional scientific career, he published >200 publications of which the majority are in the top 10% of high-impact peer-reviewed journals. He is the principal investigator of educational institutes (eg. GUIDE, SHARE, GSMS, CPE) in the Netherlands. He has (co)supervised 25 PhDs fellows and postdocs.

His current research is focused on the devising, modeling, but also clinical, and societal implementation of personalized medicine in cancer and psychosis. To this end, his research group utilizes a systematic approach that integrates heterogeneous cohorts and real-world multi-dimensional data from various diseases.  His approach contains advanced methodologies, data analytics, and genetic epidemiological techniques, including multi-dimensional reduction, growth curve trajectory modeling, mixed model analyses, and recently comparative machine learning techniques, to analyze and infer multi-level genetic, clinical (treatment), and societal data, aiming to predict patients’ long-term outcomes and response to therapies and interventions efficiently and accurately. In his view, personalized medicine is a health care process or even a societal program, rather than a research outcome!

 

Full Professor in Clinical Biochemistry and Clinical Molecular Biology-Head Physician of the Laboratory Medicine Unit- University of Tor Vergata  Hospital, Viale Oxford 81, 00133 Rome-Italy

Education

1986: Doctor of Medicine, University of  Rome “La Sapienza”

1990: Postgraduate specialization in Pediatrics, University of Tor Vergata, Rome

1990-1991: Internship at the Department of Endocrinology, Karolinska Sjukhuset, Stockholm

1995: PhD in Paediatrics, University of Tor Vergata, Rome

1998: Postgraduate Specialization in Clinical Biochemistry, University of Camerino

2021: 2° level Master in Health Economy and Management, University of Tor Vergata, Rome

Work Experience

1997-2010: Research consultant in Clinical Biochemistry and Clinical Molecular Biochemistry, Bambino Gesù Children Hospital, Rome.

1998-2001: Researcher in Clinical Biochemistry at the Department of Internal Medicine, University of Rome Tor Vergata.

2000-2018: Member of the Professors’ Committee for the PhD programme in Biochemical Sciences, University of Rome Tor Vergata.

2018-present: Member of the Professors’ Committee for the PhD programme in Industrial Engineering, University of Rome Tor Vergata.

2002-2012: President of undergraduate course in “Diagnostic laboratory techniques in the medical field”.

2002-2006: Associate Professor in Clinical Biochemistry and Clinical Molecular Biochemistry at the Department of Internal Medicine, University of Rome Tor Vergata.

2007-present: Full Professor in Clinical Biochemistry and Clinical Molecular Biochemistry at the Department of Experimental Medicine, University of Rome Tor Vergata.

2008-2010: Visiting scientist at the Medical Research Council-Toxicology Unit, Leicester, U.K

2012-2018: Director of the Postgraduate Specialization in Clinical Pathology and Clinical Biochemistry University of Rome Tor Vergata.

2012-2016: Director of the Postgraduate Master in “Ethical regulatory and methodological aspects of clinical trials” University of Rome Tor Vergata.

2013-2016:  President of  Degree course in Pharmacy, University of Rome Tor Vergata.

2016-2021: Director of the InterDipartimental Center for Culture and Science of Sport, University of Tor Vergata.

2016-present: Director of the Inter University Center for Social Sport, University of Tor Vergata/Roma Tre.

2016-2019: Dean of Degree in Sport and Exercise Sciences, University of Tor Vergata.

Current Teaching Responsibilities

Clinical Biochemistry and Clinical Molecular Biology in the following Courses at the University of Tor Vergata, Rome:

• Bachelor course in Diagnostic laboratory techniques in the medical field;
• Degree courses in Medicine, Medical Biotechnologies;
• School of Sport and Exercise Sciences;
• Postgraduate courses in Clinical Biochemistry, Gastroenterology, Neurology, Medical Genetics, Allergology and Immunology, Paediatrics, Surgery
• PhD Course in Industrial Engineering Committee Member

Hospital Work

1994 to 1997:  assistant to the Clinical Biochemistry Laboratory of Bambino Gesù Children Hospital of Rome.

2000 to 2006: chief of  the Allergology and Autoimmunity sections at the Tor Vergata University Hospital of Rome.

2007-2012: Head physician of the Clinical Molecular Biology Unit- Tor Vergata University Hospital

2012-2019: Head physician of the Laboratory Medicine Unit- Tor Vergata University Hospital

2019-present: Chief of the Laboratory Medicine Functional Integratd Area (Clinical Biochemistry, Microbiology, Virology and Pathology)- Tor Vergata University Hospital.

 

Member of :

2018-2019: President of the Italian Society of Clinical Biochemistry and Clinical Molecular Biology (SIBioC)

2012-2017: Secretary of the International Federation Clinical Chemistry and Laboratory Medicine (IFCC)

2018-present: Chair of the Emerging Technologies Division of IFCC

2016-present: member of the Editorial Board of Clinica Chimica Acta

2019-present: member of the Editorial Board of Critical Review in Clinical Laboratory Sciences

Member of the NY Rotary Club N. 6

 

International Conference Scientific Meeting Membership:

EuroMedLab 2019 Barcelona (Spain)

AACC Conference 2020 Chicago (US)

WorldLab/EuroMedLab 2023 Rome, President of the Congress

Publication list

 

1. Perrone MA, Aimo A, Bernardini S, Clerico A. Inflammageing and Cardiovascular System: Focus on Cardiokines and Cardiac-Specific Biomarkers. Int J Mol Sci. 2023 Jan 3;24(1):844. doi: 10.3390/ijms24010844. PMID: 36614282.

 

2. Guerrieri M, Francavilla B, Fiorelli D, Nuccetelli M, Passali FM, Coppeta L, Somma G, Bernardini S, Magrini A, Di Girolamo S. Nasal and Salivary Mucosal Humoral Immune Response Elicited by mRNA BNT162b2 COVID-19 Vaccine Compared to SARS-CoV-2 Natural Infection. Vaccines (Basel). 2021 Dec 18;9(12):1499. doi: 10.3390/vaccines9121499. PMID: 34960244. 2022

 

3. Iannetta M, Landi D, Cola G, Campogiani L, Malagnino V, Teti E, Coppola L, Di Lorenzo A, Fraboni D, Buccisano F, Grelli S, Mozzani M, Zingaropoli MA, Ciardi MR, Nisini R, Bernardini S, Andreoni M, Marfia GA, Sarmati L. B- and T-Cell Responses After SARS-CoV-2 Vaccination in Patients With Multiple Sclerosis Receiving Disease Modifying Therapies: Immunological Patterns and Clinical Implications. Front Immunol. 2022 Jan 17;12:796482. doi: 10.3389/fimmu.2021.796482. PMID: 35111162; PMCID: PMC8801814.

 

4. Pieri M, Infantino M, Manfredi M, Nuccetelli M, Grossi V, Lari B, Tomassetti F, Sarubbi S, Russo E, Amedei A, Benucci M, Casprini P, Stacchini L, Castilletti C, Bernardini S. Performance evaluation of four surrogate Virus Neutralization Tests (sVNTs) in comparison to the in vivo gold standard test. Front Biosci (Landmark Ed). 2022 Feb 21;27(2):74. doi: 10.31083/j.fbl2702074. PMID: 35227017.

 

5. Prezioso C, Brazzini G, Passerini S, Di Fabio C, Cosio T, Bernardini S, Campione E, Moens U, Pietropaolo V, Ciotti M. Prevalence of MCPyV, HPyV6, HPyV7 and TSPyV in Actinic Keratosis Biopsy Specimens. Viruses. 2022 Feb 18;14(2):427. doi: 10.3390/v14020427. PMID: 35216020; PMCID: PMC8876850.

 

6. Caporali S, De Stefano A, Calabrese C, Giovannelli A, Pieri M, Savini I, Tesauro M, Bernardini S, Minieri M, Terrinoni A. Anti-Inflammatory and Active Biological Properties of the Plant-Derived Bioactive Compounds Luteolin and Luteolin 7-Glucoside. Nutrients. 2022 Mar 9;14(6):1155. doi: 10.3390/nu14061155. PMID: 35334812.

 

7. Pieri M, Nicolai E, Nuccetelli M, Sarubbi S, Tomassetti F, Pelagalli M, Minieri M, Terrinoni A, Bernardini S. Validation of a quantitative lateral flow immunoassay (LFIA)-based point-of-care (POC) rapid test for SARS-CoV-2 neutralizing antibodies. Arch Virol. 2022 Apr 2. doi: 10.1007/s00705-022-05422-w. Epub ahead of print. PMID: 35377034.

 

8. Tommaso Schirinzi, Henri Zenuni, Piergiorgio Grillo, Roberta Bovenzi, Gisella Guerrera, Francesca Gargano, Massimo Pieri, Bernardini S, Nicola Biagio Mercuri, Luca Battistini, Giulia Maria Sancesario (2022). Tau and Amyloid-β Peptides in Serum of Patients With Parkinson’s Disease: Correlations With CSF Levels and Clinical Parameters. FRONTIERS IN NEUROLOGY, ISSN: 1664- 2295, doi: 0.3389/fneur.2022.748599

 

9. Fernandes M, Chiaravalloti A, Manfredi N, Placidi F, Nuccetelli M, Izzi F, Camedda R, Bernardini S, Schillaci O, Mercuri NB, Liguori C. Nocturnal Hypoxia and Sleep Fragmentation May Drive Neurodegenerative Processes: The Compared Effects of Obstructive Sleep Apnea Syndrome and Periodic Limb Movement Disorder on Alzheimer’s Disease Biomarkers. J Alzheimers Dis. 2022 May 9. doi: 10.3233/JAD-215734. Epub ahead of print. PMID: 35570484.

 

10. Perrone MA, Aimo A, Bernardini S, Clerico A. Natriuretic Peptides and Troponins to PredictCardiovascular Events in Patients Undergoing Major Non-Cardiac Surgery. Int J Environ Res Public Health. 2022 Apr 24;19(9):5182. doi: 10.3390/ijerph19095182. PMID: 35564577; PMCID: PMC9103429.

 

11. Mossa M, Neri B, Montesano L, Salvatori S, Marafini I, Scucchi L, Lolli E, Massoud R, Petruzziello C, Bernardini S, Calabrese E, Monteleone G, Biancone L. SARS-CoV-2 Igg seroprevalence in IBD patients treated with biologics: first vs. second pandemic wave in a prospective study. Eur Rev Med Pharmacol Sci. 2022 May;26(10):3787-3796. doi: 10.26355/eurrev_202205_28875. PMID: 35647861.

 

12. Schipani MC, Tomassetti F, Polidori I, Ricci P, Frassanito ML, Seraceni S, Morello M, Nicolai E, Aquaro S, Bernardini S, Pieri M, Calugi G. Evaluation of Natural and Vaccine-Induced Anti-SARSCoV- 2 Immunity: A Comparative Study between Different Groups of Volunteers. Diseases. 2022 Apr 27;10(2):25. doi: 10.3390/diseases10020025. PMID: 35645246.

 

13. Fernandes M, Mari L, Chiaravalloti A, Paoli B, Nuccetelli M, Izzi F, Giambrone MP, Camedda R, Bernardini S, Schillaci O, Mercuri NB, Placidi F, Liguori C. 18F-FDG PET, cognitive functioning, and CSF biomarkers in patients with obstructive sleep apnoea before and after continuous positive airway pressure treatment. J Neurol. 2022 May 24. doi: 10.1007/s00415-022-11182-z. Epub aheadof print. PMID: 35608659.

 

14. Basilicata M, Zarone F, Leone R, Guerriero C, Di Lauro M, Franco R, Bernardini S, Noce A, Bollero P, Sorrentino R. Impact of SARS-CoV-2 on dentistry: a review of literature. Eur Rev Med Pharmacol Sci. 2022 May;26(9):3386-3398. doi: 10.26355/eurrev_202205_28760. PMID: 35587093.

 

15. Angeletti S, Legramante JM, Lia MS, D’Amico L, Fogolari M, Cella E, De Cesaris M, De Angelis F, Pieri M, Terrinoni A, Bernardini S, Minieri M. Assessment of the Stability of Midregional Proadrenomedullin in Different Biological Matrices. Lab Med. 2022 Jun 17:lmac066. doi: 10.1093/labmed/lmac066. Epub ahead of print. PMID: 35713618.

 

 

16. Polidori I, Marullo L, Ialongo C, Tomassetti F, Colombo R, di Gaudio F, Calugi G, Marrone G, Noce A, Bernardini S, Broccolo F, Pieri M. Characterization of Gut Microbiota Composition in Type 2 Diabetes Patients: A Population-Based Study. Int J Environ Res Public Health. 2022 Nov 29;19(23):15913. doi: 10.3390/ijerph192315913. PMID: 36497987; PMCID: PMC9740005.

 

17. Dabla PK, Upreti K, Singh D, Singh A, Sharma J, Dabas A, Gruson D, Gouget B, Bernardini S, Homsak E, Stankovic S. Target association rule mining to explore novel paediatric illness patterns in emergency settings. Scand J Clin Lab Invest. 2022 Nov-Dec;82(7-8):595-600. doi: 10.1080/00365513.2022.2148121. Epub 2022 Nov 18. PMID: 36399102.

 

18. Ciotti M, Nuccetelli M, Pieri M, Petrangeli CM, Giovannelli A, Cosio T, Rosa L, Valenti P, Leonardis F, Legramante JM, Bernardini S, Campione E, Minieri M. Evaluation of Hepcidin Level in COVID-19 Patients Admitted to the Intensive Care Unit. Diagnostics (Basel). 2022 Nov 2;12(11):2665. doi: 10.3390/diagnostics12112665. PMID: 36359509; PMCID: PMC9689230.

 

19. Zedan HT, Yassine HM, Al-Sadeq DW, Liu N, Qotba H, Nicolai E, Pieri M, Bernardini S, Abu-Raddad LJ, Nasrallah GK. Evaluation of commercially available fully automated and ELISA-based assays for detecting anti-SARS-CoV-2 neutralizing antibodies. Sci Rep. 2022 Nov 8;12(1):19020. doi: 10.1038/s41598-022-21317-x. PMID: 36347859; PMCID: PMC9643483.

 

20. Carobene A, Cabitza F, Bernardini S, Gopalan R, Lennerz JK, Weir C, Cadamuro J. Where is laboratory medicine headed in the next decade? Partnership model for efficient integration and adoption of artificial intelligence into medical laboratories. Clin Chem Lab Med. 2022 Nov 3. doi: 10.1515/cclm-2022-1030. Epub ahead of print. PMID: 36327445.

 

21. Greaves RF, Kricka L, Gruson D, Martin H, Ferrari M, Bernardini S. Emerging technology: a definition for laboratory medicine. Clin Chem Lab Med. 2022 Oct 31;61(1):33-36. doi: 10.1515/cclm-2022-0929. PMID: 36302376.

 

22. Minieri M, Di Lecce VN, Lia MS, Maurici M, Leonardis F, Longo S, Colangeli L, Paganelli C, Levantesi S, Terrinoni A, Malagnino V, Brunetti DJ, Giovannelli A, Pieri M, Ciotti M, D’Agostini C, Gabriele M, Bernardini S, Legramante JM. Predictive Value of MR-proADM in the Risk Stratification and in the Adequate Care Setting of COVID-19 Patients Assessed at the Triage of the Emergency Department. Diagnostics (Basel). 2022 Aug 15;12(8):1971. doi: 10.3390/diagnostics12081971. PMID: 36010321; PMCID: PMC9406922.

 

23. Seraceni S, Zocca E, Cervone TE, Tomassetti F, Polidori I, Valisi M, Broccolo F, Calugi G, Bernardini S, Pieri M. T-Cell Assay after COVID-19 Vaccination Could Be a Useful Tool? A Pilot Study on Interferon-Gamma Release Assay in Healthcare Workers. Diseases. 2022 Jul 31;10(3):49. doi: 10.3390/diseases10030049. PMID: 35997354; PMCID: PMC9396988.

 

24. Costanza G, Paba P, Ciotti M, Ombres D, Di Carlo S, Marcuccilli F, Bertoli A, Di Traglia L, Mozzani M, Piredda L, Petrone V, Fanelli M, Paganelli C, Cortese B, Balestrieri E, Bernardini S, Andreoni M, Matteucci C, Minutolo A, Grelli S. Infection Rate of Respiratory Viruses in the Pandemic SARS-CoV-2 Period Considering Symptomatic Patients: Two Years of Ongoing Observations. Biomolecules. 2022 Jul 15;12(7):987. doi: 10.3390/biom12070987. PMID: 35883543; PMCID: PMC9313449.

 

25. Di Giacomo C, Pucillo L, Sevilla C, Fucci G, Massoud R, Bernardini S, Fraziano M, Gentile G. 25-Hydroxyvitamin D Plasma Levels in Natural Populations of Pigmented and Partially Pigmented Land Iguanas from Galápagos (Conolophus). Biomed Res Int. 2022 Jul 14;2022:7741397. doi: 10.1155/2022/7741397. PMID: 35872852; PMCID: PMC9303120

 

26. Clerico A, Zaninotto M, Aimo A, Musetti V, Perrone M, Padoan A, Dittadi R, Sandri MT, Bernardini S, Sciacovelli L, Trenti T, Malloggi L, Moretti M, Burgio MA, Manno ML, Migliardi M, Fortunato A, Plebani M. Evaluation of the cardiovascular risk in patients undergoing major non-cardiac surgery: role of cardiac-specific biomarkers. Clin Chem Lab Med. 2022 Jul 20;60(10):1525-1542. doi: 10.1515/cclm-2022-0481. PMID:

 

27. Gruson D, Dabla P, Stankovic S, Homsak E, Gouget B, Bernardini S, Macq B. Artificial intelligence and thyroid disease management: considerations for thyroid function tests. Biochem Med (Zagreb). 2022 Jun 15; 32(2):020601. doi: 10.11613/BM.2022.020601. PMID: 35799984; PMCID: PMC9195598.

 

28. Cristiano A, Pieri M, Sarubbi S, Pelagalli M, Calugi G, Tomassetti F, Bernardini S, Nuccetelli M. Evaluation of serological anti-SARS-CoV-2 chemiluminescent immunoassays correlated to live virus neutralization test, for the detection of anti-RBD antibodies as a relevant alternative in COVID-19 large-scale neutralizing activity monitoring. Clin Immunol. 2022 Jan;234:108918. doi: 10.1016/j.clim.2021.108918. Epub 2021 Dec 29. PMID: 34971839; PMCID: PMC8714258.

 

29. Minieri M, Di Lecce VN, Lia MS, Maurici M, Bernardini S, Legramante JM. Role of MR-proADM in the risk stratification of COVID-19 patients assessed at the triage of the Emergency Department. Crit Care. 2021 Nov 26;25(1):407. doi: 10.1186/s13054-021-03834-9. PMID: 34836547.

 

30. Rapanotti MC, Cugini E, Nuccetelli M, Terrinoni A, Di Raimondo C, Lombardo P, Costanza G, Cosio T, Rossi P, Orlandi A, Campione E, Bernardini S, Blot-Chabaud M, Bianchi L. MCAM/MUC18/CD146 as a Multifaceted Warning Marker of Melanoma Progression in Liquid Biopsy. Int J Mol Sci. 2021 Nov 17;22(22):12416. doi: 10.3390/ijms222212416. PMID: 34830300.

 

31. Kolesova O, Tomassetti F, Cerini P, Finucci D, Turchetti G, Capogreco F, Bernardini S, Calugi G, Pieri M. Evaluation of ECLIA antigen detection tests as screening methods for COVID-19 in comparison with molecular analysis. Ir J Med Sci. 2021 Nov 30. doi: 10.1007/s11845-021-02863-1. Epub ahead of print. PMID: 34850319.

 

32. Pieri M, Nicolai E, Ciotti M, Nuccetelli M, Sarubbi S, Pelagalli M, Bernardini S. Antibody response to COVID-19 vaccine: A point of view that can help to optimize dose distribution. Int Immunopharmacol. 2021 Nov 27:108406. doi: 10.1016/j.intimp.2021.108406. Epub ahead of print. PMID: 34862126; PMCID: PMC8626226.

 

33. Clerico A, Zaninotto M, Aimo A, Dittadi R, Cosseddu D, Perrone M, Padoan A, Masotti S, Belloni L, Migliardi M, Fortunato A, Trenti T, Malloggi L, Cappelletti P, Galli GA, Bernardini S, Sciacovelli L, Plebani M. Use of high-sensitivity cardiac troponins in the emergency department for the early rule-in and rule-out of acute myocardial infarction without persistent ST-segment elevation (NSTEMI) in Italy. Clin Chem Lab Med. 2021 Dec 20. doi: 10.1515/cclm-2021-1085. Epub ahead of print. PMID: 34927403.

 

34. Nicolai E, Nuccetelli M, Sarubbi S, Basile V, Perrone MA, Terrinoni A, Minieri M, Pieri M, Bernardini S. Performance evaluation of the new Chemiluminescence Immunoassay CL-1200i Thyroid Panel. J Immunoassay Immunochem. 2021 Dec 18:1-13. doi: 10.1080/15321819.2021.2017301. Epub ahead of print. PMID: 34927566.

 

 

35. Alessandro De Stefano, Sabrina Caporali, Nicola Di Daniele, Valentina Rovella, Carmine Cardillo, Francesca Schinzari, Marilena Minieri, Massimo Pieri, Eleonora Candi, Bernardini S, Manfredi Tesauro, Alessandro Terrinoni (2021). Anti-Inflammatory and Proliferative Properties of Luteolin-7- O-Glucoside. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, ISSN: 1661-6596, doi:10.3390/ijms22031321

 

36. Massimo Pieri, Stefano Pignalosa, Marco Alfonso Perrone, Carmelo Russo, Gianluca Noce, Andrea Perrone, Alessandro Terrinoni, Renato Massoud, Bernardini S (2021). Evaluation of the Diesse Cube 30 touch erythrocyte sedimentation method in comparison with Alifax test 1 and the manual Westergren gold standard method. SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION, ISSN: 0036-5513, doi: 10.1080/00365513.2021.188199

 

37. Aldo Clerico, Martina Zaninotto, Claudio Passino, Nadia Aspromonte, Massimo Francesco Piepoli, Marco Migliardi, Marco Perrone, Antonio Fortunato, Andrea Padoan, Angelo Testa, Franco Dellarole, Tommaso Trenti, Bernardini S, Laura Sciacovelli, Furio Colivicchi, Domenico Gabrielli, Mario Plebani (2021). Evidence on clinical relevance of cardiovascular risk evaluation in the general population using cardio-specific biomarkers. CLINICAL CHEMISTRY AND LABORATORY MEDICINE, vol. 59, p. 79-90, ISSN: 1434-6621, doi: 10.1515/cclm-2020-0310

 

38. Campione E, Lanna C, Cosio T, Rosa L, Conte MP, Iacovelli F, Romeo A, Falconi M, Del Vecchio C, Franchin E, Lia MS, Minieri M, Chiaramonte C, Ciotti M, Nuccetelli M, Terrinoni A, Iannuzzi I, Coppeta L, Magrini A, Bernardini S, Sabatini S, Rosapepe F, Bartoletti PL, Moricca N, Di Lorenzo A, Andreoni M, Sarmati L, Miani A, Piscitelli P, Squillaci E, Valenti P, Bianchi L. Lactoferrin as Antiviral Treatment in COVID-19 Management: Preliminary Evidence. Int J Environ Res Public Health. 2021 Oct 19;18(20):10985. doi: 10.3390/ijerph182010985.

 

39. Nicolai E, Pieri M, Gratton E, Motolese G, Bernardini S. Bacterial Infection Diagnosis and Antibiotic Prescription in 3 h as an Answer to Antibiotic Resistance: The Case of Urinary Tract Infections. Antibiotics (Basel). 2021 Sep 26;10(10):1168. doi: 10.3390/antibiotics10101168.

 

40. Cristiano A, Nuccetelli M, Pieri M, Sarubbi S, Pelagalli M, Calugi G, Tomassetti F, Bernardini S. Serological anti-SARS-CoV-2 neutralizing antibodies association to live virus neutralizing test titers in COVID-19 paucisymptomatic/symptomatic patients and vaccinated subjects. Int Immunopharmacol. 2021 Oct 4;101(Pt B):108215. doi: 10.1016/j.intimp.2021.108215.

 

41. Infantino M, Pieri M, Nuccetelli M, Grossi V, Lari B, Tomassetti F, Calugi G, Pancani S, Benucci M, Casprini P, Manfredi M, Bernardini S. The WHO International Standard for COVID-19 serological tests: towards harmonization of anti-spike assays. Int Immunopharmacol. 2021 Aug 30;100:108095. doi: 10.1016/j.intimp.2021.108095.

 

42. Ciotti M, Ciccozzi M, Pieri M, Bernardini S. The COVID-19 pandemic: viral variants and vaccine efficacy. Crit Rev Clin Lab Sci. 2021 Oct 1:1-10. doi: 10.1080/10408363.2021.1979462.

 

43. Caporali S, Calabrese C, Minieri M, Pieri M, Tarantino U, Marini M, D’Ottavio S, Angeletti S, Mauriello A, Cortese C, Bernardini S, Terrinoni A. The miR-133a, TPM4 and TAp63γ Role in Myocyte Differentiation Microfilament Remodelling and Colon Cancer Progression. Int J Mol Sci. 2021 Sep 10;22(18):9818. doi: 10.3390/ijms22189818.

 

44. Aiello F, Ciotti M, Gallo Afflitto G, Rapanotti MC, Caggiano B, Treglia M, Grelli S, Bernardini S, Mauriello S, Nucci C, Marsella LT, Mancino R. Post-Mortem RT-PCR Assay for SARS-CoV-2 RNA in COVID-19 Patients’ Corneal Epithelium, Conjunctival and Nasopharyngeal Swabs. J Clin Med. 2021 Sep 20;10(18):4256. doi: 10.3390/jcm10184256.

 

45. Dabla PK, Gruson D, Gouget B, Bernardini S, Homsak E. Lessons Learned from the COVID-19 Pandemic: Emphasizing the Emerging Role and Perspectives from Artificial Intelligence, Mobile Health, and Digital Laboratory Medicine. 2021 Jun 29;32(2):224-243.

 

46. Bernardini S, Pieri M, Ciotti M. How Could POCT be a Useful Tool for Migrant and Refugee Health? 2021 Jun 29;32(2):200-208.

 

47. Bernardini S. Foreword: Introducing the eJIFCC Special Issue on “POCT – Making the Point”. 2021 Jun 29;32(2):116-117.

 

48. Sancesario GM, Di Lazzaro G, Grillo P, Biticchi B, Giannella E, Alwardat M, Pieri M, Bernardini S, Mercuri NB, Pisani A, Schirinzi T. Biofluids profile of α-Klotho in patients with Parkinson’s disease. Parkinsonism Relat Disord. 2021 Sep;90:62-64. doi: 10.1016/j.parkreldis.2021.08.004.

 

49. Martino FG, Vitillo M, Pieri M, Marrone G, Gangeri F, Ansali F, Dessì M, Bernardini S, Di Daniele N, Noce A. Biomarkers of Glyco-Metabolic Control in Hemodialysis Patients: Glycated Hemoglobin vs. Glycated Albumin. Medicina (Kaunas). 2021 Jul 14;57(7):712. doi: 10.3390/medicina57070712.

 

50. Della-Morte D, Pacifici F, Ricordi C, Massoud R, Rovella V, Proietti S, Iozzo M, Lauro D, Bernardini S, Bonassi S, Di Daniele N. Low level of plasminogen increases risk for mortality in COVID-19 patients. Cell Death Dis. 2021 Aug 5;12(8):773. doi: 10.1038/s41419-021-04070-3.

 

51. Tomassetti F, Nuccetelli M, Sarubbi S, Gisone F, Ciotti M, Spinazzola F, Ricotta C, Cagnoli M, Borgatti M, Iannetta M, Andreoni M, Calugi G, Pieri M, Bernardini S. Evaluation of S-RBD and high specificity ACE-2-binding antibodies on SARS-CoV-2 patients after six months from infection. Int Immunopharmacol. 2021 Oct;99:108013. doi: 10.1016/j.intimp.2021.108013.

 

52. Mougang YK, Di Zazzo L, Minieri M, Capuano R, Catini A, Legramante JM, Paolesse R, Bernardini S, Di Natale C. Sensor array and gas chromatographic detection of the blood serum volatolomic signature of COVID-19. 2021 Aug 20;24(8):102851. doi: 10.1016/j.isci.2021.102851.

 

53. Campione E, Lanna C, Cosio T, Rosa L, Conte MP, Iacovelli F, Romeo A, Falconi M, Del Vecchio C, Franchin E, Lia MS, Minieri M, Chiaramonte C, Ciotti M, Nuccetelli M, Terrinoni A, Iannuzzi I, Coppeda L, Magrini A, Bernardini S, Sabatini S, Rosapepe F, Bartoletti PL, Moricca N, Di Lorenzo A, Andreoni M, Sarmati L, Miani A, Piscitelli P, Valenti P, Bianchi L. Lactoferrin Against SARS-CoV-2: In Vitroand In Silico Front Pharmacol. 2021 Jun 17;12:666600. doi: 10.3389/fphar.2021.666600.

 

54. Mastandrea P, Mengozzi S, Bernardini S. Systematic review and cumulative meta-analysis of the diagnostic accuracy of glial fibrillary acidic protein vs. S100 calcium binding protein B as blood biomarkers in observational studies of patients with mild or moderate acute traumatic brain injury. Diagnosis (Berl). 2021 Jul 1. doi: 10.1515/dx-2021-0006.

 

55. Caporali S, Didona B, Paradisi M, Mauriello A, Campione E, Falconi M, Iacovelli F, Minieri M, Pieri M, Bernardini S, Terrinoni A. Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus. Int J Mol Sci. 2021 Jun 27;22(13):6901. doi: 10.3390/ijms22136901.

 

56. Minieri M, Leoni BD, Bellincampi L, Bajo D, Agnoli A, De Angelis AM, Pieri M, Equitani F, Rossi V, Valente F, Pignalosa S, Terrinoni A, Bernardini S. Serum iPTH range in a reference population: From an integrated approach to vitamin D prevalence impact evaluation. Clin Chim Acta. 2021 Oct;521:1-8. doi: 10.1016/j.cca.2021.06.004.

 

57. Cherubini F, Cristiano A, Valentini A, Bernardini S, Nuccetelli M. Circulating calprotectin as a supporting inflammatory marker in discriminating SARS-CoV-2 infection: an observational study. Inflamm Res. 2021 Jun;70(6):687-694. doi: 10.1007/s00011-021-01465-y.

 

58. Servadei F, Mauriello S, Scimeca M, Caggiano B, Ciotti M, Anemona L, Montanaro M, Giacobbi E, Treglia M, Bernardini S, Marsella LT, Urbano N, Schillaci O, Mauriello A. Persistence of SARS-CoV-2 Viral RNA in Nasopharyngeal Swabs after Death: An Observational Study. 2021 Apr 10;9(4):800. doi: 10.3390/microorganisms9040800.

 

59. Balestrieri E, Minutolo A, Petrone V, Fanelli M, Iannetta M, Malagnino V, Zordan M, Vitale P, Charvet B, Horvat B, Bernardini S, Garaci E, di Francesco P, Sinibaldi Vallebona P, Sarmati L, Grelli S, Andreoni M, Perron H, Matteucci C. Evidence of the pathogenic HERV-W envelope expression in T lymphocytes in association with the respiratory outcome of COVID-19 patients. 2021 Apr;66:103341. doi: 10.1016/j.ebiom.2021.103341.

 

60. Orlacchio A, Gasparrini F, Roma S, Ravà MS, Salvatori E, Morosetti D, Cossu E, Legramante JM, Paganelli C, Bernardini S, Minieri M. Correlations between chest-CT and laboratory parameters in SARS-CoV-2 pneumonia: A single-center study from Italy. Medicine (Baltimore). 2021 Apr 9;100(14):e25310. doi: 10.1097/MD.0000000000025310.

 

61. Scucchi L, Neri B, Sarmati L, Mossa M, Sena G, Massoud R, Petruzziello C, Musumeci M, Marafini I, Calabrese E, Lolli E, Bernardini S, Andreoni M, Monteleone G, Biancone L. Low prevalence of SARS-CoV-2 infection in inflammatory bowel disease. Eur Rev Med Pharmacol Sci. 2021 Mar;25(5):2418-2424. doi: 10.26355/eurrev_202103_25283.

 

62. Ciotti M, Benedetti F, Zella D, Angeletti S, Ciccozzi M, Bernardini S. SARS-CoV-2 Infection and the COVID-19 Pandemic Emergency: The Importance of Diagnostic Methods. 2021;66(1-2):17-23. doi: 10.1159/000515343. Epub 2021 Mar 19.

 

63. Pieri M, Ciotti M, Nuccetelli M, Perrone MA, Caliò MT, Lia MS, Minieri M, Bernardini S. Serum Amyloid A Protein as a useful biomarker to predict COVID-19 patients severity and prognosis. Int Immunopharmacol. 2021 Jun;95:107512. doi: 10.1016/j.intimp.2021.107512.

 

64. Ciotti M, Nicolai E, Marcuccilli F, Bernardini S. Use of a rapid point-of-care molecular test in the triage of suspected COVID-19 cases. J Med Virol. 2021 Jul;93(7):4088-4089. doi: 10.1002/jmv.26944.

 

65. Zenuni H, Grillo P, Sancesario GM, Bernardini S, Mercuri NB, Schirinzi T. How Comorbidity Reflects on Cerebrospinal Fluid Biomarkers of Neurodegeneration in Aging. J Alzheimers Dis Rep. 2021 Jan 29;5(1):87-92. doi: 10.3233/ADR-200280.

 

66. Scimeca M, Mauriello S, Servadei F, Caggiano B, Ciotti M, Anemona L, Montanaro M, Giacobbi E, Treglia M, Bernardini S, Marsella LT, Schillaci O, Mauriello A. Persistence of SARS-CoV-2 viral RNA in nasopharyngeal swabs after death. J Infect. 2021 May;82(5):e3-e5. doi: 10.1016/j.jinf.2021.02.016.

 

67. Infante M, Buoso A, Pieri M, Lupisella S, Nuccetelli M, Bernardini S, Fabbri A, Iannetta M, Andreoni M, Colizzi V, Morello M. Low Vitamin D Status at Admission as a Risk Factor for Poor Survival in Hospitalized Patients With COVID-19: An Italian Retrospective Study. .J Am Coll Nutr. 2021 Feb 18:1-16. doi: 10.1080/07315724.2021.1877580.

 

68. Infante M, Pieri M, Lupisella S, D’Amore L, Bernardini S, Fabbri A, Iannetta M, Andreoni M, Morello M. Low testosterone levels and high estradiol to testosterone ratio are associated with hyperinflammatory state and mortality in hospitalized men with COVID-19. Eur Rev Med Pharmacol Sci. 2021 Oct;25(19):5889-5903. doi: 10.26355/eurrev_202110_26865.

 

69. Pieri M, Pignalosa S, Perrone MA, Russo C, Noce G, Perrone A, Terrinoni A, Massoud R, Bernardini S. Evaluation of the Diesse Cube 30 touch erythrocyte sedimentation method in comparison with Alifax test 1 and the manual Westergren gold standard method. Scand J Clin Lab Invest. 2021 May;81(3):181-186. doi: 10.1080/00365513.2021.1881996.

 

70. Favresse J, Bayart JL, Gruson D, Bernardini S, Clerico A, Perrone M. The underestimated issue of non-reproducible cardiac troponin I and T results: case series and systematic review of the literature. Clin Chem Lab Med. 2021 Jan 12;59(7):1201-1211. doi: 10.1515/cclm-2020-1564.

 

71. Matteucci C, Minutolo A, Balestrieri E, Petrone V, Fanelli M, Malagnino V, Ianetta M, Giovinazzo A, Barreca F, Di Cesare S, De Marco P, Miele MT, Toschi N, Mastino A, Sinibaldi Vallebona P, Bernardini S, Rogliani P, Sarmati L, Andreoni M, Grelli S, Garaci E. Thymosin Alpha 1 Mitigates Cytokine Storm in Blood Cells From Coronavirus Disease 2019 Patients. Open Forum Infect Dis. 2020 Dec 5;8(1):ofaa588. doi: 10.1093/ofid/ofaa588.

 

72. Ciotti M, Maurici M, Pieri M, Andreoni M, Bernardini S. Performance of a rapid antigen test in the diagnosis of SARS-CoV-2 infection. J Med Virol. 2021 May;93(5):2988-2991. doi: 10.1002/jmv.26830.

 

73. De Stefano A, Caporali S, Di Daniele N, Rovella V, Cardillo C, Schinzari F, Minieri M, Pieri M, Candi E, Bernardini S, Tesauro M, Terrinoni A. Anti-Inflammatory and Proliferative Properties of Luteolin-7-O-Glucoside. Int J Mol Sci. 2021 Jan 28;22(3):1321. doi: 10.3390/ijms22031321.

 

74. Perrone MA, Spolaore F, Ammirabile M, Romeo F, Caciagli P, Ceriotti F, Bernardini S. The assessment of high sensitivity cardiac troponin in patients with COVID-19: A multicenter study. Int J Cardiol Heart Vasc. 2021 Feb;32:100715. doi: 10.1016/j.ijcha.2021.100715.

 

75. Cristiano A, Fortunati V, Cherubini F, Bernardini S, Nuccetelli M. Anti-phospholipids antibodies and immune complexes in COVID-19 patients: a putative role in disease course for anti-annexin-V antibodies. Clin Rheumatol. 2021 Jul;40(7):2939-2945. doi: 10.1007/s10067-021-05580-3.

 

76. Pieri M, Nuccetelli M, Nicolai E, Sarubbi S, Grelli S, Bernardini S. Clinical validation of a second generation anti-SARS-CoV-2 IgG and IgM automated chemiluminescent immunoassay. J Med Virol. 2021 Apr;93(4):2523-2528. doi: 10.1002/jmv.26809.

 

77. Nuccetelli M, Pieri M, Gisone F, Sarubbi S, Ciotti M, Andreoni M, Bernardini S. Evaluation of a new simultaneous anti-SARS-CoV-2 IgA, IgM and IgG screening automated assay based on native inactivated virus. Int Immunopharmacol. 2021 Mar;92:107330. doi: 10.1016/j.intimp.2020.107330.

 

78. Schirinzi T, Maftei D, Pieri M, Bernardini S, Mercuri NB, Lattanzi R, Severini C. Increase of Prokineticin-2 in Serum of Patients with Parkinson’s Disease. Mov Disord. 2021 Apr;36(4):1031-1033. doi: 10.1002/mds.28458.

 

79. Perrone MA, Storti S, Salvadori S, Pecori A, Bernardini S, Romeo F, Guccione P, Clerico A. Cardiac troponins: are there any differences between T and I? J Cardiovasc Med (Hagerstown). 2021 Nov 1;22(11):797-805. doi: 10.2459/JCM.0000000000001155.

 

80. Diluvio L, Caporali S, Lozzi F, Campione E, Mazzilli S, Lanna C, Bianchi L, Bernardini S, Minieri M, Mauriello A, Ferlosio A, Candi E, Terrinoni A. Birt-Hogg-Dubé syndrome, from non-invasive dermatologic assessment to gene testing, molecular and ultrastructural histologic analysis. J Eur Acad Dermatol Venereol. 2020 Apr;34(4):e206-e209.

 

81. Rapanotti MC, Viguria TMS, Spallone G, Terrinoni A, Rossi P, Costanza G, Campione E, Lombardo P, Pathirannehalage CD, Orlandi A, Bernardini S, Bianchi L. Minimal Residual Disease in Melanoma:molecular characterization of in transit cutaneous metastases and Circulating Melanoma Cells recognizes an expression panel potentially related to disease progression. Cancer Treat Res Commun. 2020;25:100262. doi: 10.1016/j.ctarc.2020.100262.

 

82. Perrone MA, Zaninotto M, Masotti S, Musetti V, Padoan A, Prontera C, Plebani M, Passino C, Romeo F, Bernardini S, Clerico A. The combined measurement of high-sensitivity cardiac troponins and natriuretic peptides: a useful tool for clinicians? J Cardiovasc Med (Hagerstown). 2020 Dec;21(12):953-963. doi: 10.2459/JCM.0000000000001022.

 

83. Coppola A, Castaman G, Santoro RC, Mancuso ME, Franchini M, Marino R, Rivolta GF, Santoro C, Zanon E, Sciacovelli L, Manca S, Lubrano R, Golato M, Tripodi A, Rocino A; ad hoc Working Group. Management of patients with severe haemophilia a without inhibitors on prophylaxis with emicizumab: AICE recommendations with focus on emergency in collaboration with SIBioC, SIMEU, SIMEUP, SIPMeL and SISET. 2020 Nov;26(6):937-945. doi: 10.1111/hae.14172.

 

84. Pieri M, Ciotti M, Carlozzi N, Frassanito ML, Meloni A, Cistera A, Turchetti G, Niscola S, Labate G, Calugi G, Bernardini S. SARS-CoV-2 infection serology validation of different methods: Usefulness of IgA in the early phase of infection. Clin Chim Acta. 2020 Dec;511:28-32. doi: 10.1016/j.cca.2020.09.033.

 

85. Nuccetelli M, Pieri M, Gisone F, Bernardini S. Combined anti-SARS-CoV-2 IgA, IgG, and IgM Detection as a Better Strategy to Prevent Second Infection Spreading Waves. Immunol Invest. 2020 Sep 18:1-13. doi: 10.1080/08820139.2020.1823407.

 

86. Latini A, Agolini E, Novelli A, Borgiani P, Giannini R, Gravina P, Smarrazzo A, Dauri M, Andreoni M, Rogliani P, Bernardini S, Helmer-Citterich M, Biancolella M, Novelli G. COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells. Genes (Basel). 2020 Aug 27;11(9):1010. doi: 10.3390/genes11091010.

 

87. Novelli A, Andreani M, Biancolella M, Liberatoscioli L, Passarelli C, Colona VL, Rogliani P, Leonardis F, Campana A, Carsetti R, Andreoni M, Bernardini S, Novelli G, Locatelli F. HLA allele frequencies and susceptibility to COVID-19 in a group of 99 Italian patients. 2020 Nov;96(5):610-614. doi: 10.1111/tan.14047.

 

88. Perrone MA, Passino C, Vassalle C, Masotti S, Romeo F, Guccione P, Bernardini S, Clerico A. Early evaluation of myocardial injury by means of high-sensitivity methods for cardiac troponins after strenuous and prolonged exercise. J Sports Med Phys Fitness. 2020 Sep;60(9):1297-1305. doi: 10.23736/S0022-4707.20.11016-8.

 

89. Clerico A, Zaninotto M, Passino C, Aspromonte N, Piepoli MF, Migliardi M, Perrone M, Fortunato A, Padoan A, Testa A, Dellarole F, Trenti T, Bernardini S, Sciacovelli L, Colivicchi F, Gabrielli D, Plebani M. Evidence on clinical relevance of cardiovascular risk evaluation in the general population using cardio-specific biomarkers. Clin Chem Lab Med. 2020 Jul 21;59(1):79-90. doi: 10.1515/cclm-2020-0310.

 

90. Perrone MA, Macrini M, Maregnani A, Ammirabile M, Clerico A, Bernardini S, Romeo F. The effects of a 50 km ultramarathon race on high sensitivity cardiac troponin I and NT-proBNP in highly trained athletes. Minerva Cardioangiol. 2020 Aug;68(4):305-312. doi: 10.23736/S0026-4725.20.05281-0.

 

91. Ciotti M, Ciccozzi M, Terrinoni A, Jiang WC, Wang CB, Bernardini S. The COVID-19 pandemic. Crit Rev Clin Lab Sci. 2020 Sep;57(6):365-388. doi: 10.1080/10408363.2020.1783198.

 

92. Formica V, Minieri M, Bernardini S, Ciotti M, D’Agostini C, Roselli M, Andreoni M, Morelli C, Parisi G, Federici M, Paganelli C, Legramante JM. Complete blood count might help to identify subjects with high probability of testing positive to SARS-CoV-2. Clin Med (Lond). 2020 Jul;20(4):e114-e119. doi: 10.7861/clinmed.2020-0373.

 

93. Cerroni R, Liguori C, Stefani A, Conti M, Garasto E, Pierantozzi M, Mercuri NB, Bernardini S, Fucci G, Massoud R. Increased Noradrenaline as an Additional Cerebrospinal Fluid Biomarker in PSP-Like Parkinsonism. Front Aging Neurosci. 2020 Jun 16;12:126. doi: 10.3389/fnagi.2020.00126.

 

94. Sancesario GM, Di Lazzaro G, Alwardat M, Biticchi B, Basile V, Salimei C, Colona VL, Sinibaldi Salimei P, Bernardini S, Mercuri NB, Pisani A, Schirinzi T. Amyloid-β42/Neurogranin Ratio as a Potential Index for Cognitive Impairment in Parkinson’s Disease. J Alzheimers Dis. 2020;76(3):1171-1178. doi: 10.3233/JAD-200344.

 

95. Kricka LJ, Polevikov S, Park JY, Fortina P, Bernardini S, Satchkov D, Kolesov V, Grishkov M. Artificial Intelligence-Powered Search Tools and Resources in the Fight Against COVID-19. 2020 Jun 2;31(2):106-116.

 

96. Rapanotti MC, Campione E, Suarez Viguria TM, Spallone G, Costanza G, Rossi P, Orlandi A, Valenti P, Bernardini S, Bianchi L. Stem-Mesenchymal Signature Cell Genes Detected in Heterogeneous Circulating Melanoma Cells Correlate With Disease Stage in Melanoma Patients. Front Mol Biosci. 2020 May 29;7:92. doi: 10.3389/fmolb.2020.00092.

 

97. Poggiali E, Zaino D, Immovilli P, Rovero L, Losi G, Dacrema A, Nuccetelli M, Vadacca GB, Guidetti D, Vercelli A, Magnacavallo A, Bernardini S, Terracciano C. Lactate dehydrogenase and C-reactive protein as predictors of respiratory failure in CoVID-19 patients. Clin Chim Acta. 2020 Oct;509:135-138. doi: 10.1016/j.cca.2020.06.012.

 

98. Valentini A, Perrone MA, Cianfarani MA, Tarantino U, Massoud R, Merra G, Bernardini S, Morris HA, Bertoli A. Obesity, vitamin D status and physical activity: 1,25(OH)2D as a potential marker of vitamin D deficiency in obese subjects. Panminerva Med. 2020 Jun;62(2):83-92. doi: 10.23736/S0031-0808.20.03770-2.

 

99. Gruson D, Bernardini S, Dabla PK, Gouget B, Stankovic S. Collaborative AI and Laboratory Medicine integration in precision cardiovascular medicine. Clin Chim Acta. 2020 Oct;509:67-71. doi: 10.1016/j.cca.2020.06.001. Epub 2020 Jun 4.

 

100. Nuccetelli M, Pieri M, Grelli S, Ciotti M, Miano R, Andreoni M, Bernardini S. SARS-CoV-2 infection serology: a useful tool to overcome lockdown? Cell Death Discov. 2020 May 26;6:38. doi: 10.1038/s41420-020-0275-2.

 

101. Spoto S, Legramante JM, Minieri M, Fogolari M, Terrinoni A, Valeriani E, Sebastiano C, Bernardini S, Ciccozzi M, Angeletti PS. How biomarkers can improve pneumonia diagnosis and prognosis: procalcitonin and mid-regional-pro-adrenomedullin. Biomark Med. 2020 May;14(7):549-562. doi: 10.2217/bmm-2019-0414.

 

102. Clerico A, Cardinale DM, Zaninotto M, Aspromonte N, Sandri MT, Passino C, Migliardi M, Perrone M, Fortunato A, Padoan A, Trenti T, Bernardini S, Sciacovelli L, Colivicchi F, Gabrielli D, Plebani M. High-sensitivity cardiac troponin I and T methods for the early detection of myocardial injury in patients on chemotherapy. Clin Chem Lab Med. 2020 May 22;59(3):513-521. doi: 10.1515/cclm-2020-0362.

 

103. Ciotti M, Angeletti S, Minieri M, Giovannetti M, Benvenuto D, Pascarella S, Sagnelli C, Bianchi M, Bernardini S, Ciccozzi M. COVID-19 Outbreak: An Overview. 2019;64(5-6):215-223. doi: 10.1159/000507423.

 

104. Schirinzi T, Di Lazzaro G, Sancesario GM, Summa S, Petrucci S, Colona VL, Bernardini S, Pierantozzi M, Stefani A, Mercuri NB, Pisani A. Young-onset and late-onset Parkinson’s disease exhibit a different profile of fluid biomarkers and clinical features. Neurobiol Aging. 2020 Jun;90:119-124. doi: 10.1016/j.neurobiolaging.2020.02.012. Epub 2020 Feb 18.

 

105. Romigi A, Bari M, Liguori C, Izzi F, Rapino C, Nuccetelli M, Battista N, Bernardini S, Centonze D, Mercuri NB, Placidi F, Maccarrone M. CSF Levels of the Endocannabinoid Anandamide are Reduced in Patients with Untreated Narcolepsy Type 1: A Pilot Study. CNS Neurol Disord Drug Targets. 2020;19(2):142-147. doi: 10.2174/1871527319666200309115602.

 

106. Liguori C, Spanetta M, Izzi F, Franchini F, Nuccetelli M, Sancesario GM, Di Santo S, Bernardini S, Mercuri NB, Placidi F. Sleep-Wake Cycle in Alzheimer’s Disease Is Associated with Tau Pathology and Orexin Dysregulation. J Alzheimers Dis. 2020;74(2):501-508. doi: 10.3233/JAD-191124.

 

107. Calugi G, De Cagna MR, Zocca E, Quarantelli MT, Iodice C, Frassanito ML, Valentini A, Pieri M, Bernardini S. Evaluation and analytical performance of the new Roche T411 and T511 coagulation analysers. Thromb Res. 2020 Mar;187:166-169. doi: 10.1016/j.thromres.2020.01.018.

 

108. Terrinoni A, Palombo R, Pitolli C, Caporali S, De Berardinis R, Ciccarone S, Lanzillotta A, Mauramati S, Porta G, Minieri M, Melino G, Bernardini S, Bruno E. Role of the TAp63 Isoform in Recurrent Nasal Polyps. Folia Biol (Praha). 2019;65(4):170-180.

 

109. Perrone MA, Viola FG, Minieri M, Caporali S, Copponi A, Sancesario G, Angeletti S, Massoud R, Romeo F, Bernardini S, Terrinoni A. The Von Willebrand Factor Antigen Plasma Concentration: a Monitoring Marker in the Treatment of Aortic and Mitral Valve Diseases. Folia Biol (Praha). 2020;66(4):133-141.

 

110. Lattanzi R, Maftei D, Petrella C, Pieri M, Sancesario G, Schirinzi T, Bernardini S, Barbato C, Ralli M, Greco A, Possenti R, Sancesario G, Severini C. Involvement of the Chemokine Prokineticin-2 (PROK2) in Alzheimer’s Disease: From Animal Models to the Human Pathology. 2019 Nov 13;8(11):1430. doi: 10.3390/cells8111430.

 

111. Castaman G, Santoro C, Coppola A, Mancuso ME, Santoro RC, Bernardini S, Pugliese FR, Lubrano R, Golato M, Tripodi A, Rocino A, Santagostino E; ad hoc Working Group, Biasoli C, Borchiellini A, Catalano A, Contino L, Coluccia A, Cultrera D, De Cristofaro R, Di Minno G, Fabbri A, Franchini M, Gamba G, Giuffrida AC, Gresele P, Giampaolo A, Hassan HJ, Luciani M, Marchesini E, Marino R, Mazzucconi MG, Molinari AC, Morfini M, Notarangelo LD, Peccarisi L, Peyvandi F, Pollio B, Rivolta GF, Ruggieri MP, Sargentini V, Schiavoni M, Sciacovelli L, Serino ML, Siragusa S, Tagliaferri A, Testa S, Tosetto A, Zampogna S, Zanon E. Emergency management in patients with haemophilia A and inhibitors on prophylaxis with emicizumab: AICE practical guidance in collaboration with SIBioC, SIMEU, SIMEUP, SIPMeL and SISET. Blood Transfus. 2020 Mar;18(2):143-151. doi: 10.2450/2019.0186-19.

 

112. Bruno V, Nuccetelli M, Ticconi C, Bruno A, Martelli F, Capogna MV, Bernardini S, Piccione E, Pietropolli A. Amniotic fluid antiphospholipid antibodies: potential role in antiphospholipid syndrome-independent aberrant implantation process. Reprod Biol Endocrinol. 2019 Oct 15;17(1):79. doi: 10.1186/s12958-019-0527-2.

 

113. Krashia P, Cordella A, Nobili A, La Barbera L, Federici M, Leuti A, Campanelli F, Natale G, Marino G, Calabrese V, Vedele F, Ghiglieri V, Picconi B, Di Lazzaro G, Schirinzi T, Sancesario G, Casadei N, Riess O, Bernardini S, Pisani A, Calabresi P, Viscomi MT, Serhan CN, Chiurchiù V, D’Amelio M, Mercuri NB. Author Correction: Blunting neuroinflammation with resolvin D1 prevents early pathology in a rat model of Parkinson’s disease. Nat Commun. 2019 Oct 14;10(1):4725. doi: 10.1038/s41467-019-12538-2.

 

114. Perrone M, Donatucci B, Salvati A, Gualtieri P, De Lorenzo A, Romeo F, Bernardini S. Inflammation, oxidative stress and gene expression: the postprandial approach in professional soccer players to reduce the risk of muscle injuries and early atherosclerosis. Medicina dello Sport 2019 June;72(2):234-43 DOI: 10.23736/S0025-7826.19.03531-2

 

115. Perrone MA, Gualtieri P, Gratteri S, Ali W, Sergi D, Muscoli S, Cammarano A, Bernardini S, Di Renzo L, Romeo F. Effects of postprandial hydroxytyrosol and derivates on oxidation of LDL, cardiometabolic state and gene expression: a nutrigenomic approach for cardiovascular prevention. J Cardiovasc Med (Hagerstown). 2019 Jul;20(7):419-426. doi: 10.2459/JCM.0000000000000816.

 

116. Spoto S, Fogolari M, De Florio L, Minieri M, Vicino G, Legramante J, Lia MS, Terrinoni A, Caputo D, Costantino S, Bernardini S, Ciccozzi M, Angeletti S. Procalcitonin and MR-proAdrenomedullin combination in the etiological diagnosis and prognosis of sepsis and septic shock. Microb Pathog. 2019 Dec;137:103763. doi: 10.1016/j.micpath.2019.103763. Epub 2019 Sep 28.

 

117. Plebani M, Banfi G, Bernardini S, Bondanini F, Conti L, Dorizzi R, Ferrara FE, Mancini R, Trenti T. Serum or plasma? An old question looking for new answers. Clin Chem Lab Med. 2020 Jan 28;58(2):178-187. doi: 10.1515/cclm-2019-0719.

 

118. Krashia P, Cordella A, Nobili A, La Barbera L, Federici M, Leuti A, Campanelli F, Natale G, Marino G, Calabrese V, Vedele F, Ghiglieri V, Picconi B, Di Lazzaro G, Schirinzi T, Sancesario G, Casadei N, Riess O, Bernardini S, Pisani A, Calabresi P, Viscomi MT, Serhan CN, Chiurchiù V, D’Amelio M, Mercuri NB. Blunting neuroinflammation with resolvin D1 prevents early pathology in a rat model of Parkinson’s disease. Nat Commun. 2019 Sep 2;10(1):3945. doi: 10.1038/s41467-019-11928-w.

 

119. Sancesario G, Bernardini S. AD biomarker discovery in CSF and in alternative matrices. Clin Biochem. 2019 Oct;72:52-57. doi: 10.1016/j.clinbiochem.2019.08.008.

 

120. Di Renzo L, Cioccoloni G, Bernardini S, Abenavoli L, Aiello V, Marchetti M, Cammarano A, Alipourfard I, Ceravolo I, Gratteri S. A Hazelnut-Enriched Diet Modulates Oxidative Stress and Inflammation Gene Expression without Weight Gain. Oxid Med Cell Longev. 2019 Jul 4;2019:4683723. doi: 10.1155/2019/4683723.

 

121. Saeed K, Wilson DC, Bloos F, Schuetz P, van der Does Y, Melander O, Hausfater P, Legramante JM, Claessens YE, Amin D, Rosenqvist M, White G, Mueller B, Limper M, Callejo CC, Brandi A, Macchi MA, Cortes N, Kutz A, Patka P, Yañez MC, Bernardini S, Beau N, Dryden M, van Gorp ECM, Minieri M, Chan L, Rood PPM, Del Castillo JG. Correction to: The early identification of disease progression in patients with suspected infection presenting to the emergency department: a multi-centre derivation and validation study. Crit Care. 2019 Jul 15;23(1):255. doi: 10.1186/s13054-019-2536-0.

 

122. Perrone MA, Pieri M, Marchei M, Sergi D, Bernardini S, Romeo F. Serum free light chains in patients with ST elevation myocardial infarction (STEMI): A possible correlation with left ventricle dysfunction.Int J Cardiol. 2019 Oct 1;292:32-34. doi: 10.1016/j.ijcard.2019.06.016.

 

123. Clerico A, Ripoli A, Zaninotto M, Masotti S, Musetti V, Ciaccio M, Aloe R, Rizzardi S, Dittadi R, Carrozza C, Fasano T, Perrone M, de Santis A, Prontera C, Riggio D, Guiotto C, Migliardi M, Bernardini S, Plebani M. Head-to-head comparison of plasma cTnI concentration values measured with three high-sensitivity methods in a large Italian population of healthy volunteers and patients admitted to emergency department with acute coronary syndrome: A multi-center study. Clin Chim Acta. 2019 Sep;496:25-34. doi: 10.1016/j.cca.2019.06.012.

 

124. Fenouil T, Fourier A, Quadrio I, Streichenberger N, Bernardini S, Zima T, Perret-Liaudet A, Meyronet D. The standardization of cerebrospinal fluid markers and neuropathological diagnoses brings to light the frequent complexity of concomitant pathology in Alzheimer’s disease: The next challenge for biochemical markers? Clin Biochem. 2019 Oct;72:15-23. doi: 10.1016/j.clinbiochem.2019.06.004.

 

125. Palombo R, Caporali S, Falconi M, Iacovelli F, Morozzo Della Rocca B, Lo Surdo A, Campione E, Candi E, Melino G, Bernardini S, Terrinoni A. Luteolin-7-O-β-d-Glucoside Inhibits Cellular Energy Production Interacting with HEK2 in Keratinocytes. Int J Mol Sci. 2019 May 31;20(11):2689. doi: 10.3390/ijms20112689.

 

126. Greaves RF, Bernardini S, Ferrari M, Fortina P, Gouget B, Gruson D, Lang T, Loh TP, Morris HA, Park JY, Roessler M, Yin P, Kricka LJ. Key questions about the future of laboratory medicine in the next decade of the 21st century: A report from the IFCC-Emerging Technologies Division. Clin Chim Acta. 2019 Aug;495:570-589. doi: 10.1016/j.cca.2019.05.021.

 

127. Bernardini S, Zima T. Alzheimer’s disease: Making the point. Clin Biochem. 2019 Oct;72:1-2. doi: 10.1016/j.clinbiochem.2019.05.007.

 

128. Clerico A, Masotti S, Musetti V, Ripoli A, Aloe R, Di Pietro M, Rizzardi S, Dittadi R, Carrozza C, Belloni L, Perrone M, Fasano T, Canovi S, de Santis A, Prontera C, Guiotto C, Cosseddu D, Migliardi M, Bernardini S. Evaluation of 99th percentile and reference change values of the hs-cTnI method using ADVIA Centaur XPT platform: A multicenter study. Clin Chim Acta. 2019 Aug;495:161-166. doi: 10.1016/j.cca.2019.04.056.

 

129. Ialongo C, Bernardini S. Total laboratory automation has the potential to be the field of application of artificial intelligence: the cyber-physical system and “Automation 4.0”. Clin Chem Lab Med. 2019 Oct 25;57(11):e279-e281. doi: 10.1515/cclm-2019-0226.

 

130. Terrinoni A, Calabrese C, Basso D, Aita A, Caporali S, Plebani M, Bernardini S. The circulating miRNAs as diagnostic and prognostic markers. Clin Chem Lab Med. 2019 Jun 26;57(7):932-953. doi: 10.1515/cclm-2018-0838.

 

131. Clerico A, Ripoli A, Masotti S, Musetti V, Aloe R, Dipalo M, Rizzardi S, Dittadi R, Carrozza C, Storti S, Belloni L, Perrone M, Fasano T, Canovi S, Correale M, Prontera C, Guiotto C, Cosseddu D, Migliardi M, Bernardini S. Evaluation of 99th percentile and reference change values of a high-sensitivity cTnI method: A multicenter study. Clin Chim Acta. 2019 Jun;493:156-161. doi: 10.1016/j.cca.2019.02.029.

 

132. Liguori C, Mercuri NB, Nuccetelli M, Izzi F, Cordella A, Bernardini S, Placidi F. Obstructive sleep apnea may induce orexinergic system and cerebral β-amyloid metabolism dysregulation: is it a further proof for Alzheimer’s disease risk? Sleep Med. 2019 Apr;56:171-176. doi: 10.1016/j.sleep.2019.01.003.

 

133. Tripodi A, Santoro RC, Testa S, Molinari AC, Bernardini S, Golato M, Lippi G, Ageno W, Santagostino E. Position paper on laboratory testing for patients with haemophilia. A consensus document from SISET, AICE, SIBioC and SIPMeL. Blood Transfus. 2019 May;17(3):229-236. doi: 10.2450/2019.0241-18.

 

134. Alwardat M, Schirinzi T, Di Lazzaro G, Sancesario GM, Franco D, Imbriani P, Sinibaldi Salimei P, Bernardini S, Mercuri NB, Pisani A. Association between physical activity and dementia’s risk factors in patients with Parkinson’s disease. J Neural Transm (Vienna). 2019 Mar;126(3):319-325. doi: 10.1007/s00702-019-01979-0.

 

135. Saeed K, Wilson DC, Bloos F, Schuetz P, van der Does Y, Melander O, Hausfater P, Legramante JM, Claessens YE, Amin D, Rosenqvist M, White G, Mueller B, Limper M, Callejo CC, Brandi A, Macchi MA, Cortes N, Kutz A, Patka P, Yañez MC, Bernardini S, Beau N, Dryden M, van Gorp ECM, Minieri M, Chan L, Rood PPM, Del Castillo JG. The early identification of disease progression in patients with suspected infection presenting to the emergency department: a multi-centre derivation and validation study. Crit Care. 2019 Feb 8;23(1):40. doi: 10.1186/s13054-019-2329-5.

 

136. Perrone MA, Babu Dasari J, Intorcia A, Morgagni R, Sergi D, Battaini F, De Lorenzo A, Bernardini S, Merra G, Romeo F. Efficacy and safety of dronedarone in patients with amiodarone-induced hyperthyroidism: a clinical study. Eur Rev Med Pharmacol Sci. 2018 Dec;22(23):8502-8508. doi: 10.26355/eurrev_201812_16551.

 

137. Liguori C, Mercuri NB, Nuccetelli M, Izzi F, Bernardini S, Placidi F. Cerebrospinal Fluid Orexin Levels and Nocturnal Sleep Disruption in Alzheimer’s Disease Patients Showing Neuropsychiatric Symptoms. J Alzheimers Dis. 2018;66(3):993-999. doi: 10.3233/JAD-180769.

 

138. Schirinzi T, Sancesario GM, Di Lazzaro G, Biticchi B, Colona VL, Mercuri NB, Bernardini S, Pisani A. CSF α-synuclein inversely correlates with non-motor symptoms in a cohort of PD patients. Parkinsonism Relat Disord. 2019 Apr;61:203-206. doi: 10.1016/j.parkreldis.2018.10.018.

 

139. Sancesario GM, Bernardini S. Diagnosis of neurodegenerative dementia: where do we stand, now? Ann Transl Med. 2018 Sep;6(17):340. doi: 10.21037/atm.2018.08.04.

 

140. Mazzeo M, Di Raimondo C, Gurnari C, Rapanotti MC, Giunta A, Franceschini L, Rizzo M, Minieri M, Provenzano I, Bernardini S, Cantonetti M, Bianchi L. Early detection of IgH monoclonal rearrangement in follicular spicules of the nose preceding multiple myeloma diagnosis. G Ital Dermatol Venereol. 2020 Jun;155(3):364-366. doi: 10.23736/S0392-0488.18.06016-9.

 

141. Pieri M, Zenobi R, Morello M, Storto M, Buttari F, Centonze D, Bernardini S, Dessi M. Multiple Sclerosis: kFLC index values related to gender. Mult Scler Relat Disord. 2018 Nov;26:58-60. doi: 10.1016/j.msard.2018.08.018.

 

142. Mion MM, Bragato G, Zaninotto M, Alessandroni J, Bernardini S, Plebani M. Analytical performance evaluation of the new GEM^®Premier™ 5000 analyzer in comparison to the GEM^® Premier™ 4000 and the RapidPoint^® 405 systems. Clin Chim Acta. 2018 Nov;486:313-319. doi: 10.1016/j.cca.2018.08.019.

 

143. Khashoggi H, Pignalosa S, Russo C, Pieri M, Bernardini S. New HPLC instrument performance evaluation in HbA_1cdetermination and comparison with capillary electrophoresis. Scand J Clin Lab Invest. 2018 Sep;78(5):393-397. doi: 10.1080/00365513.2018.1487072.

 

144. Schirinzi T, Sancesario GM, Di Lazzaro G, Scalise S, Colona VL, Imbriani P, Mercuri NB, Bernardini S, Lang AE, Pisani A. Clinical value of CSF amyloid-beta-42 and tau proteins in Progressive Supranuclear Palsy. J Neural Transm (Vienna). 2018 Sep;125(9):1373-1379. doi: 10.1007/s00702-018-1893-1.

 

145. Pieri M, Pignalosa S, Franceschini L, Rizzo M, Cantonetti M, Zenobi R, Bernardini S, Dessi M. Nephelometric assay of urine free light chains: an alternative and early clinical test for Bence-Jones protein quantification. Clin Chem Lab Med. 2018 Nov 27;56(12):e313-e315. doi: 10.1515/cclm-2018-0402.

 

146. Sancesario GM, Bernardini S. Alzheimer’s disease in the omics era. Clin Biochem. 2018 Sep;59:9-16. doi: 10.1016/j.clinbiochem.2018.06.011.

 

147. Ialongo C, Bernardini S. Long story short: an introduction to the short-term and longterm Six Sigma quality and its importance in laboratory medicine for the management of extra-analytical processes. Clin Chem Lab Med. 2018 Oct 25;56(11):1838-1845. doi: 10.1515/cclm-2018-0310.

 

148. Terrinoni A, Didona B, Caporali S, Chillemi G, Lo Surdo A, Paradisi M, Annichiarico-Petruzzelli M, Candi E, Bernardini S, Melino G. Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin. PLoS One. 2018 Apr 24;13(4):e0195792. doi: 10.1371/journal.pone.0195792.

 

149. Terracciano C, Farina O, Esposito T, Lombardi L, Napolitano F, Blasiis P, Ciccone G, Todisco V, Tuccillo F, Bernardini S, Di Iorio G, Melone MAB, Sampaolo S. Successful long-term therapy with flecainide in a family with paramyotonia congenita. J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1232-1234. doi: 10.1136/jnnp-2017-317615.

 

150. Innaurato S, Brierley GV, Grasso V, Massimi A, Gaudino R, Sileno S, Bernardini S, Semple R, Barbetti F. Severe insulin resistance in disguise: A familial case of reactive hypoglycemia associated with a novel heterozygous INSR mutation. Pediatr Diabetes. 2018 Jun;19(4):670-674. doi: 10.1111/pedi.12632.

 

151. Sancesario GM, Nuccetelli M, Cerri A, Zegeer J, Severini C, Ciotti MT, Pieri M, Martorana A, Caltagirone C, Nistico R, Bernardini S. Bromelain Degrades Aβ1-42 Monomers and Soluble Aggregates: An In Vitro Study in Cerebrospinal Fluid of Alzheimer’s Disease Patients. Curr Alzheimer Res. 2018;15(7):628-636. doi: 10.2174/1567205015666180123124851.

 

152. Pascarella A, Terracciano C, Farina O, Lombardi L, Esposito T, Napolitano F, Franzese G, Panella G, Tuccillo F, la Marca G, Bernardini S, Boffo S, Giordano A, Di Iorio G, Melone MAB, Sampaolo S. Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy. J Cell Physiol. 2018 Aug;233(8):5829-5837. doi: 10.1002/jcp.26365.

 

153. Legramante JM, Mastropasqua M, Susi B, Porzio O, Mazza M, Miranda Agrippino G, D Agostini C, Brandi A, Giovagnoli G, Di Lecce VN, Bernardini S, Minieri M. Prognostic performance of MR-pro-adrenomedullin in patients with community acquired pneumonia in the Emergency Department compared to clinical severity scores PSI and CURB. PLoS One. 2017 Nov 21;12(11):e0187702. doi: 10.1371/journal.pone.0187702.

 

154. Liguori C, Chiaravalloti A, Izzi F, Nuccetelli M, Bernardini S, Schillaci O, Mercuri NB, Placidi F. Sleep apnoeas may represent a reversible risk factor for amyloid-β pathology. 2017 Dec 1;140(12):e75. doi: 10.1093/brain/awx281.

 

155. Ialongo C, Bernardini S. Validation of the Six Sigma Z-score for the quality assessment of clinical laboratory timeliness. Clin Chem Lab Med. 2018 Mar 28;56(4):595-601. doi: 10.1515/cclm-2017-0642.

 

156. Liguori C, Romigi A, Izzi F, Placidi F, Nuccetelli M, Cordella A, Bernardini S, Biagio MN. Complement system dysregulation in patients affected by Idiopathic Generalized Epilepsy and the effect of antiepileptic treatment. Epilepsy Res. 2017 Nov;137:107-111. doi: 10.1016/j.eplepsyres.2017.09.005.

 

157. Liguori C, Chiaravalloti A, Nuccetelli M, Izzi F, Sancesario G, Cimini A, Bernardini S, Schillaci O, Mercuri NB, Fabio P. Hypothalamic dysfunction is related to sleep impairment and CSF biomarkers in Alzheimer’s disease. J Neurol. 2017 Nov;264(11):2215-2223. doi: 10.1007/s00415-017-8613-x.

 

158. De Stefano A, Mannucci L, Massoud R, Bernardini S, Cortese C. Performance characteristics of lipoprotein-associated phospholipase A2 activity assay on the Dimension Vista analyser and preliminary study of a healthy Italian population. Biochem Med (Zagreb). 2017 Oct 15;27(3):030701. doi: 10.11613/BM.2017.030701.

 

159. Colica C, Di Renzo L, Trombetta D, Smeriglio A, Bernardini S, Cioccoloni G, Costa de Miranda R, Gualtieri P, Sinibaldi Salimei P, De Lorenzo A. Antioxidant Effects of a Hydroxytyrosol-Based Pharmaceutical Formulation on Body Composition, Metabolic State, and Gene Expression: A Randomized Double-Blinded, Placebo-Controlled Crossover Trial. Oxid Med Cell Longev. 2017;2017:2473495. doi: 10.1155/2017/2473495.

 

160. Budini F, Laudani L, Bernardini S, Macaluso A. Local vibration inhibits H-reflex but does not compromise manual dexterity and does not increase tremor. Hum Mov Sci. 2017 Oct;55:221-228. doi: 10.1016/j.humov.2017.08.018.

 

161. Martello S, Pieri M, Ialongo C, Pignalosa S, Noce G, Vernich F, Russo C, Mineo F, Bernardini S, Marsella LT. Levamisole in Illicit Trafficking Cocaine Seized: A One-Year Study. J Psychoactive Drugs. 2017 Nov-Dec;49(5):408-412. doi: 10.1080/02791072.2017.1361558.

 

162. Onorati M, Sancesario G, Pastore D, Bernardini S, Cruz M, Carrión JE, Carosi M, Vignoli L, Lauro D, Gentile G. Effects of parasitic infection and reproduction on corticosterone plasma levels in Galápagos land iguanas, Conolophus marthaeand  subcristatus. Ecol Evol. 2017 Jul 5;7(15):6046-6055. doi: 10.1002/ece3.3077.

 

163. Ialongo C, Mozzi AF, Bernardini S. An LC-MS Assay with Isocratic Separation and On-line Solid Phase Extraction to Improve the Routine Therapeutic Drug Monitoring of Busulfan in Plasma. J Med Biochem. 2017 Apr 22;36(2):113-121. doi: 10.1515/jomb-2016-0031.

 

164. Pieri M, Storto M, Pignalosa S, Zenobi R, Buttari F, Bernardini S, Centonze D, Dessi M. KFLC Index utility in multiple sclerosis diagnosis: Further confirmation. J Neuroimmunol. 2017 Aug 15;309:31-33. doi: 10.1016/j.jneuroim.2017.05.007.

 

165. Cento V, Nguyen THT, Di Carlo D, Biliotti E, Gianserra L, Lenci I, Di Paolo D, Calvaruso V, Teti E, Cerrone M, Romagnoli D, Melis M, Danieli E, Menzaghi B, Polilli E, Siciliano M, Nicolini LA, Di Biagio A, Magni CF, Bolis M, Antonucci FP, Di Maio VC, Alfieri R, Sarmati L, Casalino P, Bernardini S, Micheli V, Rizzardini G, Parruti G, Quirino T, Puoti M, Babudieri S, D’Arminio Monforte A, Andreoni M, Craxì A, Angelico M, Pasquazzi C, Taliani G, Guedj J, Perno CF, Ceccherini-Silberstein F. Improvement of ALT decay kinetics by all-oral HCV treatment: Role of NS5A inhibitors and differences with IFN-based regimens. PLoS One. 2017 May 18;12(5):e0177352. doi: 10.1371/journal.pone.0177352.

 

166. Colica C, Merra G, Gasbarrini A, De Lorenzo A, Cioccoloni G, Gualtieri P, Perrone MA, Bernardini S, Bernardo V, Di Renzo L, Marchetti M. Efficacy and safety of very-low-calorie ketogenic diet: a double blind randomized crossover study. Eur Rev Med Pharmacol Sci. 2017 May;21(9):2274-2289.

 

167. Ialongo C, Bernardini S. Preanalytical investigations of phlebotomy: methodological aspects, pitfalls and recommendations. Biochem Med (Zagreb). 2017 Feb 15;27(1):177-191. doi: 10.11613/BM.2017.020.

 

168. Lippi G, Panteghini M, Bernardini S, Bonfanti L, Carraro P, Casagranda I, Cavazza M, Ceriotti F, Ciaccio M, Coen D, Giavarina D, Giostra F, Paolillo C, Plebani M, Ricci G, Cervellin G. Laboratory testing in the emergency department: an Italian Society of Clinical Biochemistry and Clinical Molecular Biology (SIBioC) and Academy of Emergency Medicine and Care (AcEMC) consensus report. Clin Chem Lab Med. 2018 Sep 25;56(10):1655-1659. doi: 10.1515/cclm-2017-0077.

 

169. Rapanotti MC, Campione E, Spallone G, Orlandi A, Bernardini S, Bianchi L. Minimal residual disease in melanoma: circulating melanoma cells and predictive role of MCAM/MUC18/MelCAM/CD146. Cell Death Discov. 2017 Mar 6;3:17005. doi: 10.1038/cddiscovery.2017.5.

 

170. Merra G, Gratteri S, De Lorenzo A, Barrucco S, Perrone MA, Avolio E, Bernardini S, Marchetti M, Di Renzo L. Effects of very-low-calorie diet on body composition, metabolic state, and genes expression: a randomized double-blind placebo-controlled trial. Eur Rev Med Pharmacol Sci. 2017 Jan;21(2):329-345.

 

171. Campione E, Botta A, Di Prete M, Rastelli E, Gibellini M, Petrucci A, Bernardini S, Novelli G, Bianchi L, Orlandi A, Massa R, Terracciano C. Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis. Neuromuscul Disord. 2017 Feb;27(2):163-169. doi: 10.1016/j.nmd.2016.11.004.

 

172. Sancesario GM, Toniolo S, Chiasserini D, Di Santo SG, Zegeer J, Bernardi G; SIBioC-Study Group of Clinical Biochemistry of Biological Fluids other than Blood, Musicco M; SINdem-ITALPLANED, Caltagirone C, Parnetti L, Bernardini S. The Clinical Use of Cerebrospinal Fluid Biomarkers for Alzheimer’s Disease Diagnosis: The Italian Selfie. J Alzheimers Dis. 2017;55(4):1659-1666. doi: 10.3233/JAD-160975.

 

173. Pieri M, Pignalosa S, Zenobi R, Callà C, Martino FG, Menichella G, Mancina F, Moscato U, Nocca G, Khashoggi H, Bernardini S, Dessì M, Di Daniele N. Reference intervals for HbA1c partitioned for gender and age: a multicenter study. Acta Diabetol. 2016 Dec;53(6):1053-1056. doi: 10.1007/s00592-016-0932-3.

 

174. De Lorenzo A, Bernardini S, Gualtieri P, Cabibbo A, Perrone MA, Giambini I, Di Renzo L. Mediterranean meal versus Western meal effects on postprandial ox-LDL, oxidative and inflammatory gene expression in healthy subjects: a randomized controlled trial for nutrigenomic approach in cardiometabolic risk. Acta Diabetol. 2017 Feb;54(2):141-149. doi: 10.1007/s00592-016-0917-2.

 

175. Ticconi C, Pietropolli A, Borelli B, Bruno V, Piccione E, Bernardini S, Di Simone N. Antinuclear autoantibodies and pregnancy outcome in women with unexplained recurrent miscarriage. Am J Reprod Immunol. 2016 Nov;76(5):396-399. doi: 10.1111/aji.12560.

 

176. Godos J, Zappalà G, Bernardini S, Giambini I, Bes-Rastrollo M, Martinez-Gonzalez M. Adherence to the Mediterranean diet is inversely associated with metabolic syndrome occurrence: a meta-analysis of observational studies. Int J Food Sci Nutr. 2017 Mar;68(2):138-148. doi: 10.1080/09637486.2016.1221900.

 

177. Ialongo C, Marano M, Bertucci PF, Marsella LT, De Zorzi A, Bernardini S. The importance of the toxicological analysis in newborns: clearing the case of a tetralogy of Fallot with a paradoxical reaction to 1-hydroxymidazolam. Journal of Pediatric and Neonatal Individualized Medicine 2016;5:e1-7.

 

178. Onorati M, Sancesario G, Pastore D, Bernardini S, Carrión JE, Carosi M, Vignoli L, Lauro D, Gentile G. Plasma concentrations of progesterone and estradiol and the relation to reproduction in Galápagos land iguanas, Conolophus marthae and C. subcristatus (Squamata, Iguanidae). Anim Reprod Sci. 2016 Sep;172:105-13. doi: 10.1016/j.anireprosci.2016.07.007.

 

179. Roselli M, Ferroni P, Riondino S, Mariotti S, Portarena I, Alessandroni J, Ialongo C, Massoud R, Costarelli L, Cavaliere F, Bernardini S, Guadagni F. Functional impairment of activated protein C in breast cancer – relationship to survival outcomes. Am J Cancer Res. 2016 Jun 1;6(6):1450-7.

 

180. Ialongo C, Pieri M, Bernardini S. Smart management of sample dilution using an artificial neural network to achieve streamlined processes and saving resources: the automated nephelometric testing of serum free light chain as case study. Clin Chem Lab Med. 2017 Feb 1;55(2):231-236. doi: 10.1515/cclm-2016-0263.

 

181. Fintini D, Cappa M, Brufani C, Bernardini S, Barbetti F. Prevalence of elevated 1-h plasma glucose and its associations in obese youth. Diabetes Res Clin Pract. 2016 Jun;116:202-4. doi: 10.1016/j.diabres.2016.04.045.

 

182. Petropoulos K, Piermarini S, Bernardini S, Palleschi G, Moscone D. Development of a disposable biosensor for lactate monitoring in saliva. Sensor and Actuators B: Chemical 2016;237:8-15.

 

183. Barbetti F, Colombo C, Haataja L, Cras-Méneur C, Bernardini S, Arvan P. Hyperglucagonemia in an animal model of insulin- deficient diabetes: what therapy can improve it? Clin Diabetes Endocrinol. 2016 May 2;2:11. doi: 10.1186/s40842-016-0029-5.

 

184. Bizzarri C, Massimi A, Federici L, Cualbu A, Loche S, Bellincampi L, Bernardini S, Cappa M, Porzio O. A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family. Horm Res Paediatr. 2016;86(1):53-61. doi: 10.1159/000444712.

 

185. Ialongo C, Bernardini S. Timeliness “at a glance”: assessing the turnaround time through the six sigma metrics. Biochem Med (Zagreb). 2016;26(1):98-102. doi: 10.11613/bm.2016.010.

 

186. Ialongo C, Bernardini S. Phlebotomy, a bridge between laboratory and patient. Biochem Med (Zagreb). 2016;26(1):17-33. doi: 10.11613/BM.2016.002.

 

187. Liguori C, Nuccetelli M, Izzi F, Sancesario G, Romigi A, Martorana A, Amoroso C, Bernardini S, Marciani MG, Mercuri NB, Placidi F. Rapid eye movement sleep disruption and sleep fragmentation are associated with increased orexin-A cerebrospinal-fluid levels in mild cognitive impairment due to Alzheimer’s disease. Neurobiol Aging. 2016 Apr;40:120-126. doi: 10.1016/j.neurobiolaging.2016.01.007.

 

188. Ialongo C, Pieri M, Bernardini S. Artificial Neural Network for Total Laboratory Automation to Improve the Management of Sample Dilution. SLAS Technol. 2017 Feb;22(1):44-49. doi: 10.1177/2211068216636635.

 

189. Pieri M, Pignalosa S, Dinallo V, Crisanti A, Casalino P, Bernardini S, Dessi M, Rossella Z. Free light chains nephelometric assay: human urine stability in different storage conditions. Clin Chem Lab Med. 2016 Sep 1;54(9):e273-4. doi: 10.1515/cclm-2015-1174.

 

190. Liguori C, Placidi F, Izzi F, Nuccetelli M, Bernardini S, Sarpa MG, Cum F, Marciani MG, Mercuri NB, Romigi A. Beta-amyloid and phosphorylated tau metabolism changes in narcolepsy over time. Sleep Breath. 2016 Mar;20(1):277-83; discussion 283. doi: 10.1007/s11325-015-1305-9.

 

191. Pieri M, De Stefano A, Franceschini L, Rizzo M, Duranti F, Bernardini S, Cantonetti M, Zenobi R, Dessi M. Minimal tumour burden in haematological diseases: a step forward with quantitative assessment of Bence-Jones in nephelometry? Br J Haematol. 2016 Nov;175(4):733-735. doi: 10.1111/bjh.13878.

 

192. Sancesario GM, Bernardini S. How many biomarkers to discriminate neurodegenerative dementia? Crit Rev Clin Lab Sci. 2015;52(6):314-26. doi: 10.3109/10408363.2015.1051658.

 

193. Chimenti MS, Triggianese P, Nuccetelli M, Terracciano C, Crisanti A, Guarino MD, Bernardini S, Perricone R. Auto-reactions, autoimmunity and psoriatic arthritis. Autoimmun Rev. 2015 Dec;14(12):1142-6. doi: 10.1016/j.autrev.2015.08.003.

 

194. Booth RA, Bernardini S. The IFCC-Siemens Specialized Conference: Biomarkers in neuropsychiatric disorders. Clin Chim Acta. 2015 Sep 20;449:1-2. doi: 10.1016/j.cca.2015.06.018.

 

195. Liguori C, Dinallo V, Pieri M, Izzi F, Romigi A, Ialongo C, Marciani MG, Bernardini S, Mercuri NB, Placidi F. MicroRNA expression is dysregulated in narcolepsy: a new evidence? Sleep Med. 2015 Aug;16(8):1027-8. doi: 10.1016/j.sleep.2015.03.016.

 

196. Ialongo C, Porzio O, Giambini I, Bernardini S. Total Automation for the Core Laboratory: Improving the Turnaround Time Helps to Reduce the Volume of Ordered STAT Tests. J Lab Autom. 2016 Jun;21(3):451-8. doi: 10.1177/2211068215581488.

 

197. Pieroni L, Levi Mortera S, Greco V, Sirolli V, Ronci M, Felaco P, Fucci G, De Fulviis S, Massoud R, Condò S, Capria A, Di Daniele N, Bernardini S, Urbani A, Bonomini M. Biocompatibility assessment of haemodialysis membrane materials by proteomic investigations. Mol Biosyst. 2015 Jun;11(6):1633-43. doi: 10.1039/c5mb00058k.

 

198. Capuani B, Della-Morte D, Donadel G, Caratelli S, Bova L, Pastore D, De Canio M, D’Aguanno S, Coppola A, Pacifici F, Arriga R, Bellia A, Ferrelli F, Tesauro M, Federici M, Neri A, Bernardini S, Sbraccia P, Di Daniele N, Sconocchia G, Orlandi A, Urbani A, Lauro D. Liver protein profiles in insulin receptor-knockout mice reveal novel molecules involved in the diabetes pathophysiology. Am J Physiol Endocrinol Metab. 2015 May 1;308(9):E744-55. doi: 10.1152/ajpendo.00447.2014.

 

199. Gentile A, Mori F, Bernardini S, Centonze D. Role of amyloid-β CSF levels in cognitive deficit in MS. Clin Chim Acta. 2015 Sep 20;449:23-30. doi: 10.1016/j.cca.2015.01.035.

 

200. Davoli A, Greco V, Spalloni A, Guatteo E, Neri C, Rizzo GR, Cordella A, Romigi A, Cortese C, Bernardini S, Sarchielli P, Cardaioli G, Calabresi P, Mercuri NB, Urbani A, Longone P. Evidence of hydrogen sulfide involvement in amyotrophic lateral sclerosis. Ann Neurol. 2015 Apr;77(4):697-709. doi: 10.1002/ana.24372.

 

201. Liguori C, Romigi A, Nuccetelli M, Zannino S, Sancesario G, Martorana A, Albanese M, Mercuri NB, Izzi F, Bernardini S, Nitti A, Sancesario GM, Sica F, Marciani MG, Placidi F. Orexinergic system dysregulation, sleep impairment, and cognitive decline in Alzheimer disease. JAMA Neurol. 2014 Dec;71(12):1498-505. doi: 10.1001/jamaneurol.2014.2510.

 

202. Liguori C, Placidi F, Izzi F, Albanese M, Nuccetelli M, Bernardini S, Marciani MG, Mercuri NB, Romigi A. May CSF beta-amyloid and tau proteins levels be influenced by long treatment duration and stable medication in narcolepsy? Sleep Med. 2014 Nov;15(11):1424. doi: 10.1016/j.sleep.2014.07.002.

 

203. Croce N, Bernardini S, Caltagirone C, Angelucci F. Lithium/Valproic acid combination and L-glutamate induce similar pattern of changes in the expression of miR-30a-5p in SH-SY5Y neuroblastoma cells. Neuromolecular Med. 2014 Dec;16(4):872-7. doi: 10.1007/s12017-014-8325-7.

 

204. Liguori C, Romigi A, Mercuri NB, Nuccetelli M, Izzi F, Albanese M, Sancesario G, Martorana A, Sancesario GM, Bernardini S, Marciani MG, Placidi F. Cerebrospinal-fluid orexin levels and daytime somnolence in frontotemporal dementia. J Neurol. 2014 Sep;261(9):1832-6. doi: 10.1007/s00415-014-7455-z.

 

205. Greco V, Pieragostino D, Piras C, Aebersold R, Wiltfang J, Caltagirone C, Bernardini S, Urbani A. Direct analytical sample quality assessment for biomarker investigation: qualifying cerebrospinal fluid samples. 2014 Sep;14(17-18):1954-62. doi: 10.1002/pmic.201300565.

 

206. Doldo E, Costanza G, Ferlosio A, Passeri D, Bernardini S, Scioli MG, Mazzaglia D, Agostinelli S, Del Bufalo D, Czernobilsky B, Orlandi A. CRBP-1 expression in ovarian cancer: a potential therapeutic target. Anticancer Res. 2014 Jul;34(7):3303-12.

 

207. Rapanotti MC, Suarez Viguria TM, Costanza G, Ricozzi I, Pierantozzi A, Di Stefani A, Campione E, Bernardini S, Chimenti S, Orlandi A, Bianchi L. Sequential molecular analysis of circulating MCAM/MUC18 expression: a promising disease biomarker related to clinical outcome in melanoma. Arch Dermatol Res. 2014 Aug;306(6):527-37. doi: 10.1007/s00403-014-1473-7.

 

208. Amadoro G, Corsetti V, Sancesario GM, Lubrano A, Melchiorri G, Bernardini S, Calissano P, Sancesario G. Cerebrospinal fluid levels of a 20-22 kDa NH2 fragment of human tau provide a novel neuronal injury biomarker in Alzheimer’s disease and other dementias. J Alzheimers Dis. 2014;42(1):211-26. doi: 10.3233/JAD-140267.

 

209. Croce N, Mathé AA, Gelfo F, Caltagirone C, Bernardini S, Angelucci F. Effects of lithium and valproic acid on BDNF protein and gene expression in an in vitro human neuron-like model of degeneration. J Psychopharmacol. 2014 Oct;28(10):964-72. doi: 10.1177/0269881114529379.

 

210. Dessì M, Noce A, Bertucci P, Noce G, Rizza S, De Stefano A, Manca di Villahermosa S, Bernardini S, De Lorenzo A, Di Daniele N. Plasma and erythrocyte membrane phospholipids and fatty acids in Italian general population and hemodialysis patients. Lipids Health Dis. 2014 Mar 21;13:54. doi: 10.1186/1476-511X-13-54.

 

211. Liguori C, Placidi F, Albanese M, Nuccetelli M, Izzi F, Marciani MG, Mercuri NB, Bernardini S, Romigi A. CSF beta-amyloid levels are altered in narcolepsy: a link with the inflammatory hypothesis? J Sleep Res. 2014 Aug;23(4):420-4. doi: 10.1111/jsr.12130.

 

212. Rossi S, Bozzali M, Bari M, Mori F, Studer V, Motta C, Buttari F, Cercignani M, Gravina P, Mastrangelo N, Castelli M, Mancino R, Nucci C, Sottile F, Bernardini S, Maccarrone M, Centonze D. Association between a genetic variant of type-1 cannabinoid receptor and inflammatory neurodegeneration in multiple sclerosis. PLoS One. 2013 Dec 31;8(12):e82848. doi: 10.1371/journal.pone.0082848.

 

213. Matteucci C, Sorrentino R, Bellis L, Ettorre GM, Svicher V, Santoro R, Vennarecci G, Biasiolo A, Pontisso P, Scacciatelli D, Beneduce L, Sarrecchia C, Casalino P, Bernardini S, Pierimarchi P, Garaci E, Puoti C, Rasi G. Detection of high levels of Survivin-immunoglobulin M immune complex in sera from hepatitis C virus infected patients with cirrhosis. Hepatol Res. 2014 Sep;44(9):1008-18. doi: 10.1111/hepr.12239.

 

214. Angelucci F, Gelfo F, Fiore M, Croce N, Mathé AA, Bernardini S, Caltagirone C. The effect of neuropeptide Y on cell survival and neurotrophin expression in in-vitro models of Alzheimer’s disease. Can J Physiol Pharmacol. 2014 Aug;92(8):621-30. doi: 10.1139/cjpp-2014-0099.

 

215. Massimi A, Malaponti M, Federici L, Vinciguerra D, Manca Bitti ML, Vottero A, Ghizzoni L, Maccarrone M, Cappa M, Bernardini S, Porzio O. Functional and structural analysis of four novel mutations of CYP21A2 gene in Italian patients with 21-hydroxylase deficiency. Horm Metab Res. 2014 Jun;46(7):515-20. doi: 10.1055/s-0034-1371864.

 

216. Duranti F, Pieri M, Centonze D, Buttari F, Bernardini S, Dessi M. Determination of κFLC and κ Index in cerebrospinal fluid: a valid alternative to assess intrathecal immunoglobulin synthesis. J Neuroimmunol. 2013 Oct 15;263(1-2):116-20. doi: 10.1016/j.jneuroim.2013.07.006.

 

217. Santone C, Dinallo V, Paci M, D’Ottavio S, Barbato G, Bernardini S. Saliva metabolomics by NMR for the evaluation of sport performance. J Pharm Biomed Anal. 2014 Jan;88:441-6. doi: 10.1016/j.jpba.2013.09.021.

 

218. Rossi S, Motta C, Studer V, Barbieri F, Buttari F, Bergami A, Sancesario G, Bernardini S, De Angelis G, Martino G, Furlan R, Centonze D. Tumor necrosis factor is elevated in progressive multiple sclerosis and causes excitotoxic neurodegeneration. Mult Scler. 2014 Mar;20(3):304-12. doi: 10.1177/1352458513498128.

 

219. Noce A, Fabrini R, Dessì M, Bocedi A, Santini S, Rovella V, Pastore A, Tesauro M, Bernardini S, Di Daniele N, Ricci G. Erythrocyte glutathione transferase activity: a possible early biomarker for blood toxicity in uremic diabetic patients. Acta Diabetol. 2014 Apr;51(2):219-24. doi: 10.1007/s00592-013-0497-3.

 

220. Formosa A, Markert EK, Lena AM, Italiano D, Finazzi-Agro’ E, Levine AJ, Bernardini S, Garabadgiu AV, Melino G, Candi E. MicroRNAs, miR-154, miR-299-5p, miR-376a, miR-376c, miR-377, miR-381, miR-487b, miR-485-3p, miR-495 and miR-654-3p, mapped to the 14q32.31 locus, regulate proliferation, apoptosis, migration and invasion in metastatic prostate cancer cells. Oncogene. 2014 Oct 30;33(44):5173-82. doi: 10.1038/onc.2013.451.

 

221. Bonmassar L, Marchesi F, Pascale E, Franzese O, Margison GP, Bianchi A, D’Atri S, Bernardini S, Lattuada D, Bonmassar E, Aquino A. Triazene compounds in the treatment of acute myeloid leukemia: a short review and a case report. Curr Med Chem. 2013;20(19):2389-401. doi: 10.2174/0929867311320190001

 

222. Mattsson N, Andreasson U, Persson S, Carrillo MC, Collins S, Chalbot S, Cutler N, Dufour-Rainfray D, Fagan AM, Heegaard NH, Robin Hsiung GY, Hyman B, Iqbal K, Kaeser SA, Lachno DR, Lleó A, Lewczuk P, Molinuevo JL, Parchi P, Regeniter A, Rissman RA, Rosenmann H, Sancesario G, Schröder J, Shaw LM, Teunissen CE, Trojanowski JQ, Vanderstichele H, Vandijck M, Verbeek MM, Zetterberg H, Blennow K; Alzheimer’s Association QC Program Work Group. CSF biomarker variability in the Alzheimer’s Association quality control program. Alzheimers Dement. 2013 May;9(3):251-61. doi: 10.1016/j.jalz.2013.01.010.

 

223. Sancesario G, Esposito Z, Mozzi AF, Sancesario GM, Martorana A, Giordano A, Sorge R, Mari B, Spalletta G, Marciani MG, Bernardini S. Transient global amnesia: linked to a systemic disorder of amino acid catabolism? J Neurol. 2013 May;260(5):1429-32. doi: 10.1007/s00415-013-6927-x.

 

224. Croce N, Bernardini S, Di Cecca S, Caltagirone C, Angelucci F. Hydrochloric acid alters the effect of L-glutamic acid on cell viability in human neuroblastoma cell cultures. J Neurosci Methods. 2013 Jul 15;217(1-2):26-30. doi: 10.1016/j.jneumeth.2013.04.009.

 

225. Koch G, Belli L, Giudice TL, Lorenzo FD, Sancesario GM, Sorge R, Bernardini S, Martorana A. Frailty among Alzheimer’s disease patients. CNS Neurol Disord Drug Targets. 2013 Jun;12(4):507-11. doi: 10.2174/1871527311312040010.

 

226. Sacchetti C, Motamedchaboki K, Magrini A, Palmieri G, Mattei M, Bernardini S, Rosato N, Bottini N, Bottini M. Surface polyethylene glycol conformation influences the protein corona of polyethylene glycol-modified single-walled carbon nanotubes: potential implications on biological performance. ACS Nano. 2013 Mar 26;7(3):1974-89. doi: 10.1021/nn400409h.

 

227. Croce N, Gelfo F, Ciotti MT, Federici G, Caltagirone C, Bernardini S, Angelucci F. NPY modulates miR-30a-5p and BDNF in opposite direction in an in vitro model of Alzheimer disease: a possible role in neuroprotection? Mol Cell Biochem. 2013 Apr;376(1-2):189-95. doi: 10.1007/s11010-013-1567-0.

 

228. Formosa A, Lena AM, Markert EK, Cortelli S, Miano R, Mauriello A, Croce N, Vandesompele J, Mestdagh P, Finazzi-Agrò E, Levine AJ, Melino G, Bernardini S, Candi E. DNA methylation silences miR-132 in prostate cancer. 2013 Jan 3;32(1):127-34. doi: 10.1038/onc.2012.14.

 

229. Angeletti S, Battistoni F, Fioravanti M, Bernardini S, Dicuonzo G. Procalcitonin and mid-regional pro-adrenomedullin test combination in sepsis diagnosis. Clin Chem Lab Med. 2013 May;51(5):1059-67. doi: 10.1515/cclm-2012-0595.

 

230. Lettieri Barbato D, Aquilano K, Baldelli S, Cannata SM, Bernardini S, Rotilio G, Ciriolo MR. Proline oxidase-adipose triglyceride lipase pathway restrains adipose cell death and tissue inflammation. Cell Death Differ. 2014 Jan;21(1):113-23. doi: 10.1038/cdd.2013.137.

 

231. Spalletta G, Piras F, Gravina P, Bello ML, Bernardini S, Caltagirone C. Glutathione S-transferase alpha 1 risk polymorphism and increased bilateral thalamus mean diffusivity in schizophrenia. Psychiatry Res. 2012 Aug-Sep;203(2-3):180-3. doi: 10.1016/j.pscychresns.2011.12.016.

 

232. Sirolli V, Rossi C, Di Castelnuovo A, Felaco P, Amoroso L, Zucchelli M, Ciavardelli D, Di Ilio C, Sacchetta P, Bernardini S, Arduini A, Bonomini M, Urbani A. Toward personalized hemodialysis by low molecular weight amino-containing compounds: future perspective of patient metabolic fingerprint. Blood Transfus. 2012 May;10 Suppl 2(Suppl 2):s78-88. doi: 10.2450/2012.012S.

 

233. Urbani A, Sirolli V, Lupisella S, Levi-Mortera S, Pavone B, Pieroni L, Amoroso L, Di Vito R, Bucci S, Bernardini S, Sacchetta P, Bonomini M. Proteomic investigations on the effect of different membrane materials on blood protein adsorption during haemodialysis. Blood Transfus. 2012 May;10 Suppl 2(Suppl 2):s101-12. doi: 10.2450/2012.014S.

 

234. Croce N, Ciotti MT, Gelfo F, Cortelli S, Federici G, Caltagirone C, Bernardini S, Angelucci F. Neuropeptide Y protects rat cortical neurons against β-amyloid toxicity and re-establishes synthesis and release of nerve growth factor. ACS Chem Neurosci. 2012 Apr 18;3(4):312-8. doi: 10.1021/cn200127e.

 

235. Sancesario GM, Cencioni MT, Esposito Z, Borsellino G, Nuccetelli M, Martorana A, Battistini L, Sorge R, Spalletta G, Ferrazzoli D, Bernardi G, Bernardini S, Sancesario G. The load of amyloid-β oligomers is decreased in the cerebrospinal fluid of Alzheimer’s disease patients. J Alzheimers Dis. 2012;31(4):865-78. doi: 10.3233/JAD-2012-120211.

 

236. Gelfo F, Tirassa P, De Bartolo P, Croce N, Bernardini S, Caltagirone C, Petrosini L, Angelucci F. NPY intraperitoneal injections produce antidepressant-like effects and downregulate BDNF in the rat hypothalamus. CNS Neurosci Ther. 2012 Jun;18(6):487-92. doi: 10.1111/j.1755-5949.2012.00314.x.

 

237. Martorana A, Sancesario GM, Esposito Z, Nuccetelli M, Sorge R, Formosa A, Dinallo V, Bernardi G, Bernardini S, Sancesario G. Plasmin system of Alzheimer’s disease patients: CSF analysis. J Neural Transm (Vienna). 2012 Jul;119(7):763-9. doi: 10.1007/s00702-012-0778-y.

 

238. Martorana A, Esposito Z, Di Lorenzo F, Giacobbe V, Sancesario GM, Bucchi G, Bonnì S, Bernardini S, Sorge R, Sancesario G, Bernardi G, Caltagirone C, Koch G. Cerebrospinal fluid levels of Aβ42 relationship with cholinergic cortical activity in Alzheimer’s disease patients. J Neural Transm (Vienna). 2012 Jul;119(7):771-8. doi: 10.1007/s00702-012-0780-4.

 

239. D’Aguanno S, D’Agnano I, De Canio M, Rossi C, Bernardini S, Federici G, Urbani A. Shotgun proteomics and network analysis of neuroblastoma cell lines treated with curcumin. Mol Biosyst. 2012 Apr;8(4):1068-77. doi: 10.1039/c2mb05498a.

 

240. Adornetto G, Volpe G, De Stefano A, Martini S, Gallucci G, Manzoni A, Bernardini S, Mascini M, Moscone D. An ELIME assay for the rapid diagnosis of coeliac disease. Anal Bioanal Chem. 2012 May;403(4):1191-4. doi: 10.1007/s00216-011-5702-z.

 

241. Monteleone G, Fantini MC, Onali S, Zorzi F, Sancesario G, Bernardini S, Calabrese E, Viti F, Monteleone I, Biancone L, Pallone F. Phase I clinical trial of Smad7 knockdown using antisense oligonucleotide in patients with active Crohn’s disease. Mol Ther. 2012 Apr;20(4):870-6. doi: 10.1038/mt.2011.290.

 

242. D’Alessandro A, D’Aguanno S, Cencioni MT, Pieroni L, Diamantini A, Battistini L, Longone P, Spalloni A, De Laurenzi V, Bernardini S, Federici G, Urbani A.J Protein repertoire impact of Ubiquitin-Proteasome System impairment: insight into the protective role of beta-estradiol. 2012 Feb 2;75(4):1440-53. doi: 10.1016/j.jprot.2011.11.014.

 

243. Kalimutho M, Minutolo A, Grelli S, Federici G, Bernardini S. Platinum-(IV)-derivative satraplatin induced G2/M cell cycle perturbation via p53-p21(waf1/cip1)-independent pathway in human colorectal cancer cells. Acta Pharmacol Sin. 2011 Nov;32(11):1387-96. doi: 10.1038/aps.2011.107.

 

244. Formosa A, Piro MC, Docimo R, Maturo P, Sollecito DR, Kalimutho M, Sancesario G, Barlattani A, Melino G, Candi E, Bernardini S. Salivary miRNAome profiling uncovers epithelial and proliferative miRNAs with differential expression across dentition stages. Cell Cycle. 2011 Oct 1;10(19):3359-68. doi: 10.4161/cc.10.19.17647.

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247. Kalimutho M, Del Vecchio Blanco G, Di Cecilia S, Sileri P, Cretella M, Pallone F, Federici G, Bernardini S. Differential expression of miR-144* as a novel fecal-based diagnostic marker for colorectal cancer. J Gastroenterol. 2011 Dec;46(12):1391-402. doi: 10.1007/s00535-011-0456-0.

 

248. Mattsson N, Andreasson U, Persson S, Arai H, Batish SD, Bernardini S, Bocchio-Chiavetto L, Blankenstein MA, Carrillo MC, Chalbot S, Coart E, Chiasserini D, Cutler N, Dahlfors G, Duller S, Fagan AM, Forlenza O, Frisoni GB, Galasko D, Galimberti D, Hampel H, Handberg A, Heneka MT, Herskovits AZ, Herukka SK, Holtzman DM, Humpel C, Hyman BT, Iqbal K, Jucker M, Kaeser SA, Kaiser E, Kapaki E, Kidd D, Klivenyi P, Knudsen CS, Kummer MP, Lui J, Lladó A, Lewczuk P, Li QX, Martins R, Masters C, McAuliffe J, Mercken M, Moghekar A, Molinuevo JL, Montine TJ, Nowatzke W, O’Brien R, Otto M, Paraskevas GP, Parnetti L, Petersen RC, Prvulovic D, de Reus HP, Rissman RA, Scarpini E, Stefani A, Soininen H, Schröder J, Shaw LM, Skinningsrud A, Skrogstad B, Spreer A, Talib L, Teunissen C, Trojanowski JQ, Tumani H, Umek RM, Van Broeck B, Vanderstichele H, Vecsei L, Verbeek MM, Windisch M, Zhang J, Zetterberg H, Blennow K. The Alzheimer’s Association external quality control program for cerebrospinal fluid biomarkers. Alzheimers Dement. 2011 Jul;7(4):386-395.e6. doi: 10.1016/j.jalz.2011.05.2243.

 

249. Rossi S, Mancino R, Bergami A, Mori F, Castelli M, De Chiara V, Studer V, Mataluni G, Sancesario G, Parisi V, Kusayanagi H, Bernardi G, Nucci C, Bernardini S, Martino G, Furlan R, Centonze D. Potential role of IL-13 in neuroprotection and cortical excitability regulation in multiple sclerosis. Mult Scler. 2011 Nov;17(11):1301-12. doi: 10.1177/1352458511410342.

 

250. Kalimutho M, Di Cecilia S, Del Vecchio Blanco G, Roviello F, Sileri P, Cretella M, Formosa A, Corso G, Marrelli D, Pallone F, Federici G, Bernardini S. Epigenetically silenced miR-34b/c as a novel faecal-based screening marker for colorectal cancer. Br J Cancer. 2011 May 24;104(11):1770-8. doi: 10.1038/bjc.2011.82.

 

251. Viticchiè G, Lena AM, Latina A, Formosa A, Gregersen LH, Lund AH, Bernardini S, Mauriello A, Miano R, Spagnoli LG, Knight RA, Candi E, Melino G. MiR-203 controls proliferation, migration and invasive potential of prostate cancer cell lines. Cell Cycle. 2011 Apr 1;10(7):1121-31. doi: 10.4161/cc.10.7.15180.

 

252. Croce N, Dinallo V, Ricci V, Federici G, Caltagirone C, Bernardini S, Angelucci F. Neuroprotective effect of neuropeptide Y against β-amyloid 25-35 toxicity in SH-SY5Y neuroblastoma cells is associated with increased neurotrophin production. Neurodegener Dis. 2011;8(5):300-9. doi: 10.1159/000323468.

 

253. Cerasa A, Quattrone A, Gioia MC, Magariello A, Muglia M, Assogna F, Bernardini S, Caltagirone C, Bossù P, Spalletta G. MAO A VNTR polymorphism and amygdala volume in healthy subjects. Psychiatry Res. 2011 Feb 28;191(2):87-91. doi: 10.1016/j.pscychresns.2010.11.002.

 

254. Kalimutho M, Del Vecchio Blanco G, Cretella M, Mannisi E, Sileri P, Formosa A, Pallone F, Federici G, Bernardini S. A simplified, non-invasive fecal-based DNA integrity assay and iFOBT for colorectal cancer detection. Int J Colorectal Dis. 2011 May;26(5):583-92. doi: 10.1007/s00384-010-1128-x.

 

255. Angelucci F, Croce N, Spalletta G, Dinallo V, Gravina P, Bossù P, Federici G, Caltagirone C, Bernardini S. Paroxetine rapidly modulates the expression of brain-derived neurotrophic factor mRNA and protein in a human glioblastoma-astrocytoma cell line. 2011;87(1-2):5-10. doi: 10.1159/000322528.

 

256. Ticconi C, Mancinelli F, Gravina P, Federici G, Piccione E, Bernardini S. Beta-fibrinogen G-455A polymorphisms and recurrent miscarriage. Gynecol Obstet Invest. 2011;71(3):198-201. doi: 10.1159/000317522.

 

257. Rossi S, Buttari F, Studer V, Motta C, Gravina P, Castelli M, Mantovani V, De Chiara V, Musella A, Fiore S, Masini S, Bernardi G, Maccarrone M, Bernardini S, Centonze D. The (AAT)n repeat of the cannabinoid CB1 receptor gene influences disease progression in relapsing multiple sclerosis. Mult Scler. 2011 Mar;17(3):281-8. doi: 10.1177/1352458510388680.

 

258. D’Aguanno S, D’Alessandro A, Pieroni L, Roveri A, Zaccarin M, Marzano V, De Canio M, Bernardini S, Federici G, Urbani A. New insights into neuroblastoma cisplatin resistance: a comparative proteomic and meta-mining investigation. J Proteome Res. 2011 Feb 4;10(2):416-28. doi: 10.1021/pr100457n.

 

259. Gravina P, Spoletini I, Masini S, Valentini A, Vanni D, Paladini E, Bossù P, Caltagirone C, Federici G, Spalletta G, Bernardini S. Genetic polymorphisms of glutathione S-transferases GSTM1, GSTT1, GSTP1 and GSTA1 as risk factors for schizophrenia. Psychiatry Res. 2011 May 30;187(3):454-6. doi: 10.1016/j.psychres.2010.10.008.

 

260. Ricci V, Pomponi M, Martinotti G, Bentivoglio A, Loria G, Bernardini S, Caltagirone C, Bria P, Angelucci F. Antidepressant treatment restores brain-derived neurotrophic factor serum levels and ameliorates motor function in Parkinson disease patients. J Clin Psychopharmacol. 2010 Dec;30(6):751-3. doi: 10.1097/JCP.0b013e3181fc2ec7.

 

261. Mori F, Rossi S, Sancesario G, Codecà C, Mataluni G, Monteleone F, Buttari F, Kusayanagi H, Castelli M, Motta C, Studer V, Bernardi G, Koch G, Bernardini S, Centonze D. Cognitive and cortical plasticity deficits correlate with altered amyloid-β CSF levels in multiple sclerosis. 2011 Feb;36(3):559-68. doi: 10.1038/npp.2010.187.

 

262. Donohoe G, Rose E, Frodl T, Morris D, Spoletini I, Adriano F, Bernardini S, Caltagirone C, Bossù P, Gill M, Corvin AP, Spalletta G. ZNF804A risk allele is associated with relatively intact gray matter volume in patients with schizophrenia. 2011 Feb 1;54(3):2132-7. doi: 10.1016/j.neuroimage.2010.09.089.

 

263. D’Aguanno S, Franciotta D, Lupisella S, Barassi A, Pieragostino D, Lugaresi A, Centonze D, D’Eril GM, Bernardini S, Federici G, Urbani A. Protein profiling of Guillain-Barrè syndrome cerebrospinal fluid by two-dimensional electrophoresis and mass spectrometry. Neurosci Lett. 2010 Nov 12;485(1):49-54. doi: 10.1016/j.neulet.2010.08.060.

 

264. Kalimutho M, Minutolo A, Grelli S, Formosa A, Sancesario G, Valentini A, Federici G, Bernardini S. Satraplatin (JM-216) mediates G2/M cell cycle arrest and potentiates apoptosis via multiple death pathways in colorectal cancer cells thus overcoming platinum chemo-resistance. Cancer Chemother Pharmacol. 2011 Jun;67(6):1299-312. doi: 10.1007/s00280-010-1428-4.

 

265. Sayan BS, Yang AL, Conforti F, Tucci P, Piro MC, Browne GJ, Agostini M, Bernardini S, Knight RA, Mak TW, Melino G. Differential control of TAp73 and DeltaNp73 protein stability by the ring finger ubiquitin ligase PIR2. Proc Natl Acad Sci U S A. 2010 Jul 20;107(29):12877-82. doi: 10.1073/pnas.0911828107.

 

266. Kalimutho M, Blanco Gdel V, Gravina P, Cretella M, Mannucci L, Mannisi E, Formosa A, Pallone F, Federici G, Bernardini S. Quantitative denaturing high performance liquid chromatography (Q-dHPLC) detection of APC long DNA in faeces from patients with colorectal cancer. Clin Chem Lab Med. 2010 Sep;48(9):1303-11. doi: 10.1515/CCLM.2010.245.

 

267. Ticconi C, Rotondi F, Veglia M, Pietropolli A, Bernardini S, Ria F, Caruso A, Di Simone N. Antinuclear autoantibodies in women with recurrent pregnancy loss. Am J Reprod Immunol. 2010 Dec;64(6):384-92. doi: 10.1111/j.1600-0897.2010.00863.x.

 

268. Liguori PF, Valentini A, Palma M, Bellusci A, Bernardini S, Ghedini M, Panno ML, Pettinari C, Marchetti F, Crispini A, Pucci D. Non-classical anticancer agents: synthesis and biological evaluation of zinc(II) heteroleptic complexes. Dalton Trans. 2010 May 7;39(17):4205-12. doi: 10.1039/b922101h.

 

269. Gaziev J, Nguyen L, Puozzo C, Mozzi AF, Casella M, Perrone Donnorso M, Gravina P, Sodani P, Marziali M, Isgrò A, Simone MD, Andreani M, Formosa A, Testi M, Federici G, Bernardini S, Lucarelli G. Novel pharmacokinetic behavior of intravenous busulfan in children with thalassemia undergoing hematopoietic stem cell transplantation: a prospective evaluation of pharmacokinetic and pharmacodynamic profile with therapeutic drug monitoring. 2010 Jun 3;115(22):4597-604. doi: 10.1182/blood-2010-01-265405.

 

270. Fusco FR, Pompa A, Bernardi G, Ottaviani F, Giampà C, Laurenti D, Morello M, Bernardini S, Nuccetelli M, Sabatini U, Paolucci S. A case of PANDAS treated with tetrabenazine and tonsillectomy. J Child Neurol. 2010 May;25(5):614-5. doi: 10.1177/0883073809355824.

 

271. Sayan BS, Yang AL, Conforti F, Bernardini S, Tucci P, Vasa-Nicotera M, Knight RA, Melino G. Induction of TAp63 by histone deacetylase inhibitors. Biochem Biophys Res Commun. 2010 Jan 22;391(4):1748-51. doi: 10.1016/j.bbrc.2009.12.147.

 

272. Gravina P, Angelini F, Chianca M, Valentini A, Bellincampi L, Iannini R, Pierantozzi A, Moschese V, Mrak E, Federici G, Chini L, Bernardini S. GSTP1*B allele increases the risk for asthma in children. Clin Chem Lab Med. 2009;47(11):1451-3. doi: 10.1515/CCLM.2009.314.

 

273. Sancesario GM, Esposito Z, Nuccetelli M, Bernardini S, Sorge R, Martorana A, Federici G, Bernardi G, Sancesario G. Abeta1-42 Detection in CSF of Alzheimer’s disease is influenced by temperature: indication of reversible Abeta1-42 aggregation? Exp Neurol. 2010 Jun;223(2):371-6. doi: 10.1016/j.expneurol.2009.07.028.

 

274. Spalletta G, Morris DW, Angelucci F, Rubino IA, Spoletini I, Bria P, Martinotti G, Siracusano A, Bonaviri G, Bernardini S, Caltagirone C, Bossù P, Donohoe G, Gill M, Corvin AP. BDNF Val66Met polymorphism is associated with aggressive behavior in schizophrenia. Eur Psychiatry. 2010 Oct;25(6):311-3. doi: 10.1016/j.eurpsy.2009.10.008.

 

275. De Canio M, D’Aguanno S, Sacchetti C, Petrucci F, Cavagni G, Nuccetelli M, Federici G, Urbani A, Bernardini S. Novel IgE recognized components of Lolium perenne pollen extract: comparative proteomics evaluation of allergic patients sensitization profiles. J Proteome Res. 2009 Sep;8(9):4383-91. doi: 10.1021/pr900315a.

 

276. Rapanotti MC, Bianchi L, Ricozzi I, Campione E, Pierantozzi A, Orlandi A, Chimenti S, Federici G, Bernardini S. Melanoma-associated markers expression in blood: MUC-18 is associated with advanced stages in melanoma patients. Br J Dermatol. 2009 Feb;160(2):338-44. doi: 10.1111/j.1365-2133.2008.08929.x.

 

277. Rivetti di Val Cervo P, Tucci P, Majid A, Lena AM, Agostini M, Bernardini S, Candi E, Cohen G, Nicotera P, Dyer MJ, Melino G. p73, miR106b, miR34a, and Itch in chronic lymphocytic leukemia. 2009 Jun 18;113(25):6498-9; author reply 6499-500. doi: 10.1182/blood-2009-02-203174.

 

278. Angelucci F, Bernardini S, Gravina P, Bellincampi L, Trequattrini A, Di Iulio F, Vanni D, Federici G, Caltagirone C, Bossù P, Spalletta G. Delusion symptoms and response to antipsychotic treatment are associated with the 5-HT2A receptor polymorphism (102T/C) in Alzheimer’s disease: a 3-year follow-up longitudinal study. J Alzheimers Dis. 2009;17(1):203-11. doi: 10.3233/JAD-2009-1031.

 

279. Valentini A, Conforti F, Crispini A, De Martino A, Condello R, Stellitano C, Rotilio G, Ghedini M, Federici G, Bernardini S, Pucci D. Synthesis, oxidant properties, and antitumoral effects of a heteroleptic palladium(II) complex of curcumin on human prostate cancer cells. J Med Chem. 2009 Jan 22;52(2):484-91. doi: 10.1021/jm801276a.

 

280. Pucci D, Bellusci A, Bernardini S, Bloise R, Crispini A, Federici G, Liguori P, Lucas MF, Russo N, Valentini A. Bioactive fragments synergically involved in the design of new generation Pt(ii) and Pd(ii)-based anticancer compounds. Dalton Trans. 2008 Nov 21;(43):5897-904. doi: 10.1039/b808093c.

 

281. Ciotti M, Marzano V, Giuliani L, Nuccetelli M, D’Aguanno S, Azzimonti B, Bernardini S, Perno CF, Urbani A, Favalli C, Federici G. Proteomic investigation in A549 lung cell line stably infected by HPV16E6/E7 oncogenes. 2009;77(4):427-39. doi: 10.1159/000176209.

 

282. Bernardini S, Gravina P, Croce N, Perricone R, Knight RA, Valentini A, Melino G, Federici G. Itch gene polymorphisms in healthy population and in patients affected by rheumatoid arthritis and atopic dermatitis. Cell Cycle. 2008 Nov 15;7(22):3607-9. doi: 10.4161/cc.7.22.6968.

 

283. Primavera A, Fustinoni S, Biroccio A, Ballerini S, Urbani A, Bernardini S, Federici G, Capucci E, Manno M, Lo Bello M. Glutathione transferases and glutathionylated hemoglobin in workers exposed to low doses of 1,3-butadiene. Cancer Epidemiol Biomarkers Prev. 2008 Nov;17(11):3004-12. doi: 10.1158/1055-9965.EPI-08-0443.

 

284. Masini S, Ticconi C, Gravina P, Tomassini M, Pietropolli A, Forte V, Federici G, Piccione E, Bernardini S. Thrombin-activatable fibrinolysis inhibitor polymorphisms and recurrent pregnancy loss. Fertil Steril. 2009 Aug;92(2):694-702. doi: 10.1016/j.fertnstert.2008.07.015.

 

285. Federici G, Bernardini S. The new Italian course of post-graduate education in laboratory medicine. Clin Chim Acta. 2008 Jul 1;393(1):31-2. doi: 10.1016/j.cca.2008.03.023.

 

286. Perricone R, Galante V, Bernardini S, Guarino M, Cervelli V. Fillers and biocompatibility: lack of human complement activating capacity. Plast Reconstr Surg. 2008 Mar;121(3):154e-155e. doi: 10.1097/01.prs.0000300218.62940.5a.

 

287. Gravina P, Ciotti M, Masini S, Valentini A, Marcuccilli F, Croce N, Federici G, Perno CF, Bernardini S. Impact of storage conditions on genetic analysis or viral load determination in clinical specimens. Clin Chem Lab Med. 2008;46(2):280-2. doi: 10.1515/cclm.2008.038.

 

288. Valentini A, Bernardini S. Editorial comment on: ADAM9 expression is a significant and independent prognostic marker of PSA relapse in prostate cancer. Eur Urol. 2008 Nov;54(5):1106-7. doi: 10.1016/j.eururo.2007.11.035.

 

289. D’Aguanno S, Barassi A, Lupisella S, d’eril GM, Del Boccio P, Pieragostino D, Pallotti F, Carelli V, Valentino ML, Liguori R, Avoni P, Bernardini S, Gambi D, Urbani A, Federici G. Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis. J Neuroimmunol. 2008 Jan;193(1-2):156-60. doi: 10.1016/j.jneuroim.2007.10.004.

 

290. Bossù P, Ciaramella A, Salani F, Bizzoni F, Varsi E, Di Iulio F, Giubilei F, Gianni W, Trequattrini A, Moro ML, Bernardini S, Caltagirone C, Spalletta G. Interleukin-18 produced by peripheral blood cells is increased in Alzheimer’s disease and correlates with cognitive impairment. Brain Behav Immun. 2008 May;22(4):487-92. doi: 10.1016/j.bbi.2007.10.001.

 

291. Spalletta G, Bernardini S, Bellincampi L, Federici G, Trequattrini A, Ciappi F, Bria P, Caltagirone C, Bossù P. Glutathione S-transferase P1 and T1 gene polymorphisms predict longitudinal course and age at onset of Alzheimer disease. Am J Geriatr Psychiatry. 2007 Oct;15(10):879-87. doi: 10.1097/JGP.0b013e3180547076.PMID: 17911365

 

292. Biancolella M, Valentini A, Minella D, Vecchione L, D’Amico F, Chillemi G, Gravina P, Bueno S, Prosperini G, Desideri A, Federici G, Bernardini S, Novelli G. Effects of dutasteride on the expression of genes related to androgen metabolism and related pathway in human prostate cancer cell lines. Invest New Drugs. 2007 Oct;25(5):491-7. doi: 10.1007/s10637-007-9070-7.

 

293. Centonze D, Bari M, Rossi S, Prosperetti C, Furlan R, Fezza F, De Chiara V, Battistini L, Bernardi G, Bernardini S, Martino G, Maccarrone M. The endocannabinoid system is dysregulated in multiple sclerosis and in experimental autoimmune encephalomyelitis. 2007 Oct;130(Pt 10):2543-53. doi: 10.1093/brain/awm160.

 

294. Pucci D, Bloise R, Bellusci A, Bernardini S, Ghedini M, Pirillo S, Valentini A, Crispini A. Curcumin and cyclopalladated complexes: a recipe for bifunctional biomaterials. J Inorg Biochem. 2007 Jul;101(7):1013-22. doi: 10.1016/j.jinorgbio.2007.03.006.

 

295. D’Aguanno S, Del Boccio P, Bernardini S, Ballone E, Di Ilio C, Federici G, Urbani A. Electrophoretic separations of cerebrospinal fluid proteins in clinical investigations. Clin Chem Lab Med. 2007;45(4):437-49. doi: 10.1515/CCLM.2007.106.

 

296. Valentini A, Biancolella M, Amati F, Gravina P, Miano R, Chillemi G, Farcomeni A, Bueno S, Vespasiani G, Desideri A, Federici G, Novelli G, Bernardini S. Valproic acid induces neuroendocrine differentiation and UGT2B7 up-regulation in human prostate carcinoma cell line. Drug Metab Dispos. 2007 Jun;35(6):968-72. doi: 10.1124/dmd.107.014662.

 

297. Bossù P, Ciaramella A, Moro ML, Bellincampi L, Bernardini S, Federici G, Trequattrini A, Macciardi F, Spoletini I, Di Iulio F, Caltagirone C, Spalletta G. Interleukin 18 gene polymorphisms predict risk and outcome of Alzheimer’s disease. J Neurol Neurosurg Psychiatry. 2007 Aug;78(8):807-11. doi: 10.1136/jnnp.2006.103242.

 

298. Valentini A, Gravina P, Federici G, Bernardini S. Valproic acid induces apoptosis, p16INK4A upregulation and sensitization to chemotherapy in human melanoma cells. Cancer Biol Ther. 2007 Feb;6(2):185-91. doi: 10.4161/cbt.6.2.3578.

 

299. Stefani A, Martorana A, Bernardini S, Panella M, Mercati F, Orlacchio A, Pierantozzi M. CSF markers in Alzheimer disease patients are not related to the different degree of cognitive impairment. J Neurol Sci. 2006 Dec 21;251(1-2):124-8. doi: 10.1016/j.jns.2006.09.014.

 

300. Angelucci A, Valentini A, Millimaggi D, Gravina GL, Miano R, Dolo V, Vicentini C, Bologna M, Federici G, Bernardini S. Valproic acid induces apoptosis in prostate carcinoma cell lines by activation of multiple death pathways. Anticancer Drugs. 2006 Nov;17(10):1141-50. doi: 10.1097/01.cad.0000236302.89843.fc.

 

301. Del Boccio P, Pieragostino D, Lugaresi A, Di Ioia M, Pavone B, Travaglini D, D’Aguanno S, Bernardini S, Sacchetta P, Federici G, Di Ilio C, Gambi D, Urbani A. Cleavage of cystatin C is not associated with multiple sclerosis. Ann Neurol. 2007 Aug;62(2):201-4; discussion 205. doi: 10.1002/ana.20968.

 

302. Valentini A, Pucci D, Crispini A, Federici G, Bernardini S. Acridine Orange based platinum(II) complexes inducing cytotoxicity and cell cycle perturbation in spite of GSTP1 up-regulation. Chem Biol Interact. 2006 Jul 10;161(3):241-50. doi: 10.1016/j.cbi.2006.03.011.

 

303. Bernardini S, Nuccetelli M, Noguera NI, Bellincampi L, Lunghi P, Bonati A, Mann K, Miller WH Jr, Federici G, Lo Coco F. Role of GSTP1-1 in mediating the effect of As2O3 in the Acute Promyelocytic Leukemia cell line NB4. Ann Hematol. 2006 Oct;85(10):681-7. doi: 10.1007/s00277-006-0139-8.

 

304. Biroccio A, Del Boccio P, Panella M, Bernardini S, Di Ilio C, Gambi D, Stanzione P, Sacchetta P, Bernardi G, Martorana A, Federici G, Stefani A, Urbani A. Differential post-translational modifications of transthyretin in Alzheimer’s disease: a study of the cerebral spinal fluid. 2006 Apr;6(7):2305-13. doi: 10.1002/pmic.200500285.

 

305. Monteleone G, Del Vecchio Blanco G, Monteleone I, Fina D, Caruso R, Gioia V, Ballerini S, Federici G, Bernardini S, Pallone F, MacDonald TT. Post-transcriptional regulation of Smad7 in the gut of patients with inflammatory bowel disease. 2005 Nov;129(5):1420-9. doi: 10.1053/j.gastro.2005.09.005.

 

306. Carnicer MJ, Bernardini S, Bellincampi L, Noguera NI, Nuccetelli M, Ammatuna E, Breccia M, Lo-Coco F, Federici G. Role of gamma-glutamyl cysteine synthetase (gamma-GCS) gene expression as marker of drug sensitivity in acute myeloid leukemias. Clin Chim Acta. 2006 Mar;365(1-2):342-5. doi: 10.1016/j.cca.2005.09.012.

 

307. Spalletta G, Bernardini S, Bellincampi L, Federici G, Trequattrini A, Caltagirone C. Delusion symptoms are associated with ApoE epsilon4 allelic variant at the early stage of Alzheimer’s disease with late onset. Eur J Neurol. 2006 Feb;13(2):176-82. doi: 10.1111/j.1468-1331.2006.01165.x.

 

308. Stefani A, Bernardini S, Panella M, Pierantozzi M, Nuccetelli M, Koch G, Urbani A, Giordano A, Martorana A, Orlacchio A, Federici G, Bernardi G. AD with subcortical white matter lesions and vascular dementia: CSF markers for differential diagnosis. J Neurol Sci. 2005 Oct 15;237(1-2):83-8. doi: 10.1016/j.jns.2005.05.016.

 

309. Rapanotti MC, Caruso R, Bernardini S, Coletti V, Lo-Coco F, De Rossi G. Idiopathic hypereosinophilic syndrome: a case evolving in B-lymphoblastic lymphoma. Leuk Res. 2005 Aug;29(8):975-9. doi: 10.1016/j.leukres.2005.01.010.

 

310. Poland J, Wandschneider S, Urbani A, Bernardini S, Federici G, Sinha P. Use of proteomics to study chemosensitivity. Methods Mol Med. 2005;111:267-81. doi: 10.1385/1-59259-889-7:267.

 

311. Bernardini S, Bellincampi L, Ballerini S, Federici G, Iori R, Trequattrini A, Ciappi F, Baldinetti F, Bossù P, Caltagirone C, Spalletta G. Glutathione S-transferase P1 *C allelic variant increases susceptibility for late-onset Alzheimer disease: association study and relationship with apolipoprotein E epsilon4 allele. Clin Chem. 2005 Jun;51(6):944-51. doi: 10.1373/clinchem.2004.045955.

 

 

312. Marfia GA, Pachatz C, Terracciano C, Leone G, Bernardini S, Bernardi G, Massa R. Subacute demyelinating polyneuropathy in B-cell lymphoma with IgM antibodies against glycolipid GD1b. Neurol Sci. 2005 Dec;26(5):355-7. doi: 10.1007/s10072-005-0500-z.

 

313. Urbani A, Poland J, Bernardini S, Bellincampi L, Biroccio A, Schnölzer M, Sinha P, Federici G. A proteomic investigation into etoposide chemo-resistance of neuroblastoma cell lines. 2005 Feb;5(3):796-804. doi: 10.1002/pmic.200401147.

 

314. Biroccio A, Urbani A, Massoud R, di Ilio C, Sacchetta P, Bernardini S, Cortese C, Federici G. A quantitative method for the analysis of glycated and glutathionylated hemoglobin by matrix-assisted laser desorption ionization-time of flight mass spectrometry. Anal Biochem. 2005 Jan 15;336(2):279-88. doi: 10.1016/j.ab.2004.10.002.

 

315. Bernardini S, Infantino M, Bellincampi L, Nuccetelli M, Afeltra A, Lori R, Biroccio A, Urbani A, Federici G. Screening of antinuclear antibodies: comparison between enzyme immunoassay based on nuclear homogenates, purified or recombinant antigens and immunofluorescence assay. Clin Chem Lab Med. 2004;42(10):1155-60. doi: 10.1515/CCLM.2004.235.

 

316. Bernardini S, Miano R, Iori R, Finazzi-Agrò E, Palmieri G, Ballerini S, Angeloni C, Orlandi A, Bellincampi L, Cortese C, Federici G. Hypermethylation of the CpG islands in the promoter region of the GSTP1 gene in prostate cancer: a useful diagnostic and prognostic marker? Clin Chim Acta. 2004 Dec;350(1-2):181-8. doi: 10.1016/j.cccn.2004.07.022.

 

317. Tacconi S, Perri R, Balestrieri E, Grelli S, Bernardini S, Annichiarico R, Mastino A, Caltagirone C, Macchi B. Increased caspase activation in peripheral blood mononuclear cells of patients with Alzheimer’s disease. Exp Neurol. 2004 Nov;190(1):254-62. doi: 10.1016/j.expneurol.2004.07.009.

 

318. Tagliacozzi D, Mozzi AF, Casetta B, Bertucci P, Bernardini S, Di Ilio C, Urbani A, Federici G. Quantitative analysis of bile acids in human plasma by liquid chromatography-electrospray tandem mass spectrometry: a simple and rapid one-step method. Clin Chem Lab Med. 2003 Dec;41(12):1633-41. doi: 10.1515/CCLM.2003.247.

 

319. Ballerini S, Bellincampi L, Bernardini S, Iori R, Cortese C, Federici G. Analysis of GSTP1-1 polymorphism using real-time polymerase chain reaction. Clin Chim Acta. 2003 Mar;329(1-2):127-32. doi: 10.1016/s0009-8981(02)00422-9.

 

320. Gnasso A, Motti C, Irace C, Di Gennaro I, Pujia A, Leto E, Ciamei M, Crivaro A, Bernardini S, Federici G, Cortese C. The Arg allele in position 192 of PON1 is associated with carotid atherosclerosis in subjects with elevated HDLs. 2002 Oct;164(2):289-95. doi: 10.1016/s0021-9150(02)00070-9.

 

321. Ballerini S, Bellincampi L, Bernardini S, Casciani S, Motti C, Cortese C, Federici G. Apolipoprotein E genotyping: a comparative study between restriction endonuclease mapping and allelic discrimination with the LightCycler. Clin Chim Acta. 2002 Mar;317(1-2):71-6. doi: 10.1016/s0009-8981(01)00769-0.

 

322. Bernardini S, Bellincampi L, Ballerini S, Ranalli M, Pastore A, Cortese C, Federici G. Role of GST P1-1 in mediating the effect of etoposide on human neuroblastoma cell line Sh-Sy5y. J Cell Biochem. 2002;86(2):340-7. doi: 10.1002/jcb.10219.

 

323. Tozzi G, Nuccetelli M, Lo Bello M, Bernardini S, Bellincampi L, Ballerini S, Gaeta LM, Casali C, Pastore A, Federici G, Bertini E, Piemonte F. Antioxidant enzymes in blood of patients with Friedreich’s ataxia. Arch Dis Child. 2002 May;86(5):376-9. doi: 10.1136/adc.86.5.376.

 

324. Bellincampi L, Ballerini S, Bernardini S, Inserra A, Marchetti P, Boglino C, Donfrancesco A, Federici G. Glutathione transferase P1 polymorphism in neuroblastoma studied by endonuclease restriction mapping. Clin Chem Lab Med. 2001 Sep;39(9):830-5. doi: 10.1515/CCLM.2001.138.

 

325. Motti C, Dessì M, Gnasso A, Irace C, Indigeno P, Angelucci CB, Bernardini S, Fucci G, Federici G, Cortese C. A multiplex PCR-based DNA assay for the detection of paraoxonase gene cluster polymorphisms. Atherosclerosis. 2001 Sep;158(1):35-40. doi: 10.1016/s0021-9150(00)00765-6.

 

326. Bernardini S, Bernassola F, Cortese C, Ballerini S, Melino G, Motti C, Bellincampi L, Iori R, Federici G. Modulation of GST P1-1 activity by polymerization during apoptosis. J Cell Biochem. 2000 Apr;77(4):645-53. PMID: 10771520.

 

327. Pastore A, Bernardini S, Dello Strologo L, Rizzoni G, Cortese C, Federici G. Simultaneous determination of inulin and p-aminohippuric acid in plasma and urine by reversed-phase high-performance liquid chromatography. J Chromatogr B Biomed Sci Appl. 2001 Feb 10;751(1):187-91. doi: 10.1016/s0378-4347(00)00444-8.

 

328. Bellincampi L, Simone ML, Motti C, Cortese C, Bernardini S, Bertolini S, Calandra S. Identification of an alternative transcript of ABCA1 gene in different human cell types. Biochem Biophys Res Commun. 2001 May 11;283(3):590-7. doi: 10.1006/bbrc.2001.4823.

 

 

329. Gnasso A, Motti C, Irace C, Carallo C, Liberatoscioli L, Bernardini S, Massoud R, Mattioli PL, Federici G, Cortese C. Genetic variation in human stromelysin gene promoter and common carotid geometry in healthy male subjects. Arterioscler Thromb Vasc Biol. 2000 Jun;20(6):1600-5. doi: 10.1161/01.atv.20.6.1600.

 

330. Bernardini S, Melino G, Cortese C, Ballerini S, Annicchiarico-Petruzzelli M, Bernassola F, Corazzari M, Federici G. Modulation of glutathione transferase P1-1 activity by retinoic acid in neuroblastoma cells. J Cell Biochem. 1999 Dec 1;75(3):375-81. doi: 10.1002/(sici)1097-4644(19991201)75:3<375::aid-jcb3>3.3.co;2-9.

 

331. Motti C, Gnasso A, Bernardini S, Massoud R, Pastore A, Rampa P, Federici G, Cortese C. Common mutation in methylenetetrahydrofolate reductase. Correlation with homocysteine and other risk factors for vascular disease. Atherosclerosis. 1998 Aug;139(2):377-83. doi: 10.1016/s0021-9150(98)00079-3.

 

332. Melino G, Draoui M, Bellincampi L, Bernassola F, Bernardini S, Piacentini M, Reichert U, Cohen P. Retinoic acid receptors alpha and gamma mediate the induction of “tissue” transglutaminase activity and apoptosis in human neuroblastoma cells. Exp Cell Res. 1997 Aug 25;235(1):55-61. doi: 10.1006/excr.1997.3656.

 

333. Bernardini S, Melino G, Saura F, Annicchiarico-Petruzzelli M, Motti C, Cortese C, Federici G. Expression of co-factors (SMRT and Trip-1) for retinoic acid receptors in human neuroectodermal cell lines. Biochem Biophys Res Commun. 1997 May 8;234(1):278-82. doi: 10.1006/bbrc.1997.6626.

 

334. Melino G, Draoui M, Bernardini S, Bellincampi L, Reichert U, Cohen P. Regulation by retinoic acid of insulin-degrading enzyme and of a related endoprotease in human neuroblastoma cell lines. Cell Growth Differ. 1996 Jun;7(6):787-96.

 

335. Cappa M, Setzu S, Bernardini S, Carta D, Federici G, Grossi A, Loche S. Exogenous growth hormone administration does not inhibit the growth hormone response to hexarelin in normal men. J Endocrinol Invest. 1995 Nov;18(10):762-6. doi: 10.1007/BF03349808.

 

336. Bernardini S, Cianfarani S, Pianca C, Massoud R, Germani D, Federici M, Melino G. Insulin-like growth factor binding protein-1 serum levels in neuroblastoma. Clinical Chemistry and Enzymology Communications 1996: 6(6):359-363.

 

337. Cianfarani S, Vaccaro F, Pasquino AM, Marchione SA, Passeri F, Spadoni GL, Bernardini S, Spagnoli A, Boscherini B. Reduced growth hormone secretion in Turner syndrome: is body weight a key factor? Horm Res. 1994;41(1):27-32. doi: 10.1159/000183873.

 

338. Bernardini S, Cianfarani S, Spagnoli A, Annicchiarico-Petruzzelli M, Melino G, Massoud R, Boscherini B, Finazzi-Agró A, Rosenfeld RG, Federici G. Expression and down-regulation by retinoic acid of IGF binding protein-2 and -4 in medium from human neuroblastoma cells. J Neuroendocrinol. 1994 Aug;6(4):409-13. doi: 10.1111/j.1365-2826.1994.tb00601.x

 

339. Pasquino AM, Bernardini S, Cianfarani S, Mancuso G, Marchione SA, Passèri F, Pucarelli I, Spadoni GL. GH assessment and three years’ hGH therapy in girls with Turner syndrome. Horm Res. 1992;38(3-4):120-4. doi: 10.1159/000182526.

 

340. Bernardini S, Spadoni GL, Pòvoa G, Boscherini B, Hall K. Plasma levels of insulin-like growth factor binding protein-1, and growth hormone binding protein activity from birth to the third month of life. Acta Endocrinol (Copenh). 1992 Oct;127(4):313-8. doi: 10.1530/acta.0.1270313.

 

341. Cianfarani S, Holly JM, Pasquino AM, Vaccaro F, Spadoni GL, Bernardini S, Segni M, Boscherini B. Insulin-like growth factor binding protein 1 (IGFBP-1) levels in Turner syndrome. Horm Metab Res. 1992 Nov;24(11):537-40. doi: 10.1055/s-2007-1003383.

 

342. Bernardini S, Spadoni GL, Cianfarani S, Vaccaro F, Pasquino AM, Boscherini B. Growth Hormone Secretion in Noonan’s Syndrome. J Pediatr Endocr Met 1991: 4(4): 217-222. doi:10.1515/JPEM.1991.4.4.217.

 

343. Spadoni GL, Cianfarani S, Bernardini S, Vaccaro F, Galasso C, Boscherini B. How far should indications for growth hormone expand? Lancet. 1990 Jun 2;335(8701):1351. doi: 10.1016/0140-6736(90)91236-4.

 

344. Spadoni GL, Cianfarani S, Bernardini S, Fabrizio V, Galasso C, Boscherini B. Growth hormone treatment in children with sporadic primary microcephaly. Am J Dis Child. 1989 Nov;143(11):1282-3. doi: 10.1001/archpedi.1989.02150230040019.

 

345. Spadoni GL, Cianfarani S, Bernardini S, Vaccaro F, Galasso C, Manca Bitti ML, Costa F, Boscherini B. Twelve-hour spontaneous nocturnal growth hormone secretion in growth retarded patients. Clin Pediatr (Phila). 1988 Oct;27(10):473-8. doi: 10.1177/000992288802701002.

George Dedoussis is a Professor of Molecular Genetics and Nutrigenetics at the Department of Science in Nutrition-Dietetics of Harokopio University in Athens. He received his Bachelor degree in Biology from the University of Patras, his MSc degree from the University of Compiegne in France and his PhD from the Medical School of Athens. He worked as a researcher on a Fulbright scholarship at the Medical Faculty of the ‘Harvard University’ (Boston, USA). During the period 2012-2016 he was member of the University council. He was elected as the Vice-President of the Hellenic Institute od Research & Innovation. In 2018 he received “The Gutenberg Chair” from the Region Grand Est, Euro metropole de Strasbourg. He has published more than 350 papers and his research work has been recognized by others (number of citations > 80.000, h-index: 98). He was nominated among the most cited scientists worldwide during the last decade. He has coordinated many national and European grants in the field of genomics of obesity, myocardial infraction and Non-Alcoholic Fatty Liver Disease (NAFLD).

Panos Deloukas is Chair of Cardiovascular Genomics and Director William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London (QMUL). He is Fellow of The Academy of Medical Sciences (UK) since 2018.

He is a world leader in cardiometabolic genetics and genomics investigating the molecular basis of both common and rare forms of heart disease. He has authored 526 publications (H-index 181) and is amongst the world’s top 1% highly cited researchers in Molecular Biology & Genetics.

Panos Deloukas, who is a co-founder of the CARDIoGRAMplusC4D consortium, has made significant contributions to the discovery of over 240 risk loci for coronary artery disease (CAD). He leads the Precision Cardiovascular Genomic Medicine Theme of the NIHR Barts Biomedical Research Centre and chairs the Functional Genomics subgroup of the Cardiovascular Clinical Interpretation Domain from Genomics England.

Education

2013-2021 PhD. in Statistics under supervision of Radu V. Craiu and Lei Sun, University of Toronto

2011-2013 M.Sc. in Health Research Methodology with distinction under supervision of Angelo Canty, McMaster University

2007-2011 Honours B.Sc. in Mathematics & Statistics with distinction, McMaster University

Employment

2021– Adjunct Assistant Professor, Department of Psychiatry and Behavioural Neurosciences, McMaster University

2021– Research Associate, St. Joseph’s Healthcare Hamilton

2020-2021 Research Associate, Centre for Mental Health and Addiction

2019-2020 Research Analyst, Dalla Lana School of Public Health, University of Toronto

Interruptions

2019-2020 Maternity leave

2022-2023 Maternity leave

Research Grant

2022-2027 Canadian Institutes of Health Research (CIHR)
CIHR Project Grant (202109OGB-470360): Methods for including the X chromosome in genetic association studies to advance disease gene mapping
PI and co-PI: Andrew Paterson and Lei Sun
co-I: Wei Q. Deng, Lloyd Elliott, and Lisa Strug

Working papers

2022
Deng WQ, Sun L, and Craiu R. Measuring the severity of multi-collinearity in high-dimensions.

2022
DengWQ, Canty AJ, and Pare G. Prioritizing environmental variables for gene-environment interaction testing.

2022
DengWQ, Belisario K, Gray J, Levitt E, MacKillop J. A high-resolution phewas approach to screen for functional influences of alcohol-implicated variants from large-scale GWAS.
abstract presented at the Research Society on Alcoholism; submitted to Brain and Behavior

2022
Deng WQ, Belisario K, Gray J, Levitt E, Pedrum MS, Singh D, Pare G, MacKillop J. Genomic Basis of Impulsive Choice, Impulsive Action, and Impulsive Personality Traits in 1,534 European Ancestry Community Adults: Phenotypic Structure, Individual Variant Analysis, Associations with Polygenic Risk Scores. under revision at Genes, Brain and Behavior

2022
Pathan N, Deng WQ, Khan M, et al. Contribution of rare coding variants to complex trait heritability. Research Square; under review DOI: 10.21203/rs.3.rs-2159360/v1.

2023
Levitt E, Sanchez Roige S,; Deng WQ, Neveux I, Schlauch K, Grzymski J, Palmer A, MacKillop J. Transdiagnostic associations between impulsive choice and impulsive personality traits in relation to substance use and other health outcomes in a general community sample of 11,061 adults” under review at Addiction

Publications

2022 Deng WQ and Craiu R. Dimension learning using penalized probabilistic PCA. Journal of Statistical Computation and Simulation

2022 Deng WQ and Sun L. gJLS2: An R package for generalized joint location and scale analysis in X-inclusive genome-wide association studies. G3: Genes, Genomes, Genetics. 12(4):jkac049. doi: 10.1093/g3journal/jkac049.

2019 Deng WQ, Mao S, Kalnapenkis A, Magi R, Esko T, Par e G, and Sun L. Analytical strategies to include the X-chromosome in variance heterogeneity analyses: Evidence for trait-specific polygenic variance structure. Genetic epidemiology. 43(7):815-830. doi: 10.1002/gepi.22247.
IGES paper of the month.

2018 Par e G, Mao S, Deng WQ. A robust method to estimate regional polygenic correlation under misspeci ed linkage disequilibrium structure. Genetic epidemiology. 42(7):636-47.

2017 Par e G, Mao S, and Deng WQ. A machine-learning heuristic to improve gene score prediction of polygenic traits. Scienti c reports. 7(1) (2017): 12665.

2017 Shungin D*. Deng WQ*, . . . , Paul FW. Ranking and characterization of established BMI and lipid associated loci as candidates for gene-environment interactions. PLOS Genetics 13(6): e1006812. https://doi.org/10.1371/journal.pgen.1006812 (* co- rst author)

2016 Par e G, Mao S, Deng WQ, A method to estimate the contribution of regional genetic as- sociations to complex traits from summary association statistics Scientific Reports. 6, 27644. http://doi.org/10.1038/srep27644

2015 Par e G, Asma S, Deng WQ, Contribution of Large Region Joint Associations to Complex Traits Genetics. PLOS Genetics. 11(4): e1005103. doi: 10.1371/journal.pgen.1005103

2014 Sohani ZN, Deng WQ, Par e G, Meyre D, Gerstein HC, and Anand SS, Does genetic hetero-geneity account for the divergent risk of type 2 diabetes mellitus in South Asian and white Caucasian populations? Diabetologia., 57(11), 2270-2281. doi:10.1007/s00125-014-3354-1

2014 Brambatti M, Connolly SJ, Gold MR, … , Deng WQ (15/17), …, Healey JS, Temporal Relationship between Subclinical Atrial Fibrillation and Embolic Events. Circulation. 129.21:2094-2099.

2013 Deng WQ, Asma S, and Par e G., Meta-analysis of SNPs involved in variance hetero-geneity using Levene’s test for equal variances. European Journal of Human Genetics. doi:10.1038/ejhg.2013.166

2011 Deng WQ and Par e G., A fast algorithm to optimize SNP prioritization for gene-gene and gene-environment interactions. Genetic Epidemiology. 35: 729738. doi:10.1002/gepi.20624

2011 Lear SA, Deng WQ, Par e G, Sulistyoningrum DC, Loos RJF, Devlin AM., Associations of the FTO rs9939609 variant with discrete body fat depots and dietary intake in a multi-ethnic cohort. Genetics Research, 93(6), 419-26. doi:10.1017/S001667231100036

Book chapters:

2021 Wei Q. Deng and Lei Sun. Section: in Human Genetic Diversity: Genomic Variation, Thompson and Thompson, Genetics in Medicine, 9^th edition

Software Packages:

2021 Wei Q. Deng and Lei Sun. gJLS2: A generalized joint location and scale analysis tool for X-inclusive genome-wide discoveries. https://github.com/WeiAkaneDeng/gJLS2

2019 Wei Q. Deng and Lei Sun. Xvarhet: X-chromosome variance heterogeneity testing strategies. http://github.com/WeiAkaneDeng/Xvarhet

2018 Wei Q. Deng and Reedik Magi. SNP-varhet: A suite of program and scripts for meta-analysis of variance heterogeneity. https://github.com/WeiAkaneDeng/SNP-varhet/

2018 Wei Q. Deng and Radu V. Craiu. SPAC2: Statistical and Probabilistic Algorithm for Classication and Clustering. https://github.com/WeiAkaneDeng/SPAC2/

2017 Shihong Mao, Guillaume Par e, Wei Q. Deng. Polygenic trait prediction with Gradient boosted and LD adjusted (GraBLD) gene scores. https://github.com/GMELab/GraBLD

2011 Wei Q. Deng and Guillaume Par e. GEWIST: Gene Environment Wide Interaction Search Threshold. http://bioconductor.org/packages/release/bioc/html/GEWIST.html DOI:10.18129/B9.bioc.GEWIST

Conference Presentations (last 5 years):

2022 Pathan N, Deng WQ, Khan M, et al. Contribution of rare coding variants to complex trait heritability. International Genetic Epidemiology Society (Paris, France)
2022 Deng WQ, Belisario K, Gray J, Levitt E, MacKillop J. A high-resolution phewas approach to screen for functional influences of alcohol-implicated variants from large-scale GWAS. Research Society on Alcoholism meeting (Orlando, Florida)
2021 Deng WQ, Par e G, Craiu RV ,Sun L, Less is more: an unbiased and versatile estimator of genetic variance using summary statistics, International Genetic Epidemiology Society (virtual)
2018 Deng WQ, Craiu RV, Multi-class cancer tumour classi cation via penalized probabilistic principal components analysis, Joint Statistical Meetings (Vancouver, Canada)
2018 Deng WQ, Craiu RV, Multi-class cancer tumour classi cation via penalized probabilistic principal components analysis, Statistical Society of Canada (Montreal, Canada)
2016 Deng WQ, Sun L, Addressing the inherent confounding by sex on X-chromosome association and variance heterogeneity analyses – statistical issues and remedies, International Genetic Epidemiology Society (Toronto, Canada)
2016 Deng WQ, Sun L, Addressing the inherent confounding by sex on X-chromosome association and variance heterogeneity analyses – statistical issues and remedies, American Society of Human Genetics meeting (Vancouver, Canada)
2016 Deng WQ, Craiu RV, Estimation of the number of clusters using penalized probabilistic principal component analysis Joint Statistical Meetings (Chicago, US)

Teaching and mentoring

2022 HRM 753 – Regression Analysis. Instructor (McMaster University)

2021 Polygenic Risk Score (PRS) Best Practices Local Workshop (Virtual, Toronto). Contributed substantially to the material preparation for the morning sessions; led the preparation of the advanced topics on X chromosome and made the presentation \X-chromosome aware PRS: Advances and Challenges.”

2018 STA 248 – Statistics for Computer Scientists. Instructor and course organizer (University of Toronto)

2017-2018 STA 130 head TA (University of Toronto); prepared materials, trained and coordinated 24 undergraduate TAs to implement experience-based learning

2016-2018 STA 490 graduate mentor TA (University of Toronto); supervising 2 teams of 3 undergrads to serve as statistical consultants

Peer Reviews

2022 Human Molecular Genetics

2021-2022 Heredity

2020-2021 Statistics in Medicine

2018-2019 Annals of Applied Statistics

2017 Journal of the American Statistical Association

2014 Behaviour Research Methods

2014 PLOS ONE

Analytical Skills

Programming: R, Bash, and Python
Genetics Softwares: GCTA, GATK, PLINK, SNPTEST, IMPUTE, SHAPEIT, APT
Databases: 1000 Genomes Project, dbSNP, dbGap, EMBL-EBI Expression Atlas, GWAS Catalog, MITOMAP, UKB, ALSPAC

Awards and Honours

Doctoral Completion Award 2018-2019
Department of Statistical Sciences, University of Toronto $10,500/year for one year

Student Travel Award 2018
$500.00 awarded by Statistical Society of Canada

Teaching Excellence Award of 2016-17 2017
Department of Statistical Sciences, University of Toronto

Queen Elizabeth II Graduate Scholarship in Science and Technology 2017
$15,000/year for one year

School of Graduate Studies Conference Grant 2016
$440.00 awarded by University of Toronto

Alexander Graham Bell Canada Graduate Scholarships (NSERC-CGS) – Doctoral 2014
$35,000/year for three years

Ontario Graduate Scholarship 2013
$15,000/year for one year

Graduate Admission Award (University of Toronto) 2013
$2,000

Canadian Institutes of Health Research Master’s Award (CIHR-CGS) – Master 2012
Frederick Banting and Charles Best Canada Graduate Scholarships
$17,500/year for one year

Ontario Graduate Scholarship 2012
$15,000/year for one year; declined

Ontario Graduate Scholarship 2011
$15,000/year for one year

McMaster Entrance Scholarship (Graduate Level) 2011
$5,000
Department of Mathematics and Statistics, McMaster University 2008-2009
Included on the Dean’s Honour List for academic excellence

McMaster Entrance Award Scholarship 2007-2011
Awarded for academic achievements in secondary school and retained for academic excellence
($2,000/year for 4 years)

Queen Elizabeth II Aiming for the Top Scholarship 2007-2010
Awarded for academic excellence and retained for academic excellence
($3,500/year for 3 years)

 

Aristides Eliopoulos is Professor of Biology & Genetics and Head of the Department of Biology at the National & Kapodistrian University of Athens (NKUA), School of Medicine. He performed his PhD at the National Hellenic Research Foundation of Athens in partnership with the University of Crete Medical School and his postdoctoral training in the UK and the US. From 2000 to 2005, Dr Eliopoulos led a research group at the University of Birmingham Institute for Cancer Studies (Birmingham, UK) supported by a prestigious MRC Career Development Award, followed by faculty appointments at the University of Crete Medical School, including Chair in Molecular and Cellular Biology in 2012. In 2017 he was elected Professor at NKUA, School of Medicine.

Ari Eliopoulos serves as member of the Governing Board of the Centre of Precision Medicine of the NKUA School of Medicine, member of the Governing Board of the Center of Excellence in Agri-Food and Food Authenticity of NKUA, member of the Governing Board of the Hellenic Society of Molecular Research in Cancer and member of the working group on Precision Medicine of the Hellenic Society of Digital Medicine.

Ari Eliopoulos teaches Biology and Genetics to undergraduate medical students and has contributed to the translation of a number of biology textbooks or chapters in Greek. He also teaches various aspects of Cancer Biology and Nutrigenetics in doctoral programmes and is the coordinator of the e-learning course “Application of Genetics in Precision Nutrition” of NKUA. He is co-founder of the NKUA spin-off company “GENOSOPHY”.

ORCID ID: 0000-0002-6403-6761 / ResearcherID: R-9449-2018

Web

LINKEDIN

Perry Elliott is Professor of Cardiovascular Medicine at University College London and a Senior Investigator of the UK National Institute for Health Research. He is director of the UCL Institute of Cardiovascular Science UCL and a consultant cardiologist at St. Bartholomew’s Hospital London, UK. He is Chairman of the ESC Heart Academy and past chair of the ESC Council on Cardiovascular Genomics, the ESC Working Group on Myocardial and Pericardial Diseases (2010–2012) and the Executive Committee for the European Outcomes Research Programme registry on cardiomyopathies. He is President of Cardiomyopathy UK and an executive Editor for the European Heart Journal.

Philippe Froguel, MD, PhD, works at Imperial College London as Prof and chair of Genomic Medicine, and at Lille University hospital as Prof of Endocrinology, where he is director of the Inserm/CNRS/Pasteur/Lille Univ research group “Functional(epi)genomics and mechanisms of type 2 diabetes and related dis-orders”, Director of the European Genomic Institute for Diabetes research (EGID) and of the French National Center for Precision Medicine in diabetes PreciDIAB.

PF’s scientific carrier is focused on the genetics of diabetes and obesity. He is author of 775 publications and his H-index is 184 (with 156K citations). PF has identified in 1992 the first diabetes gene (glucokinase), in 1998 the most preva-lent cause of monogenic obesity (MC4R), and the first recessive mutation caus-ing obesity in the leptin receptor gene. He discovered in 2006 the role of the sul-fonylurea receptor gene ABCC8 in monogenic diabetes and in 2010-2011 the first evidence that Copy Number Variation causes extreme obesity or leanness depending of the quantity of DNA. He discovered in 2007 the first gene for common obesity (FTO) and has published in 2007 the first Genome Wide Asso-ciation Study (GWAS) in T2D. Later, he found first gene frequent variants con-trolling glycemia (in GCPC2) and discovered the role of the melatonin pathway (through frequent and rare variants in MTNR1B) in T2D risk. Recently, he showed that 3% of patients with common T2D carry pathogenic mutations in ac-tionable genes opening a path to precision medicine. PF current interest is in personalized medicine, with the identification of diabetic patients that should benefit from customized treatments controlling diabetes and preventing compli-cations. To progress toward this direction PF have created the unique in France LIGAN Genome Sequencing Center.

University Hospitals of Innsbruck

Central Institute of Medical and Chemical Laboratory Diagnostics

Anichstraße 35

A-6020 Innsbruck/Austria

1968-1980: Elementary school and high school (Sacré Coeur) in Vienna  Graduation: June, 19980

1980-1986: Medical study at the University of Vienna

Graduation: June, 1986 

1984-85: Part time position as a student at the Diagnostic Laboratories (Division  of Clinical  Biochemistry) of the 2nd  Departement of Surgery, University of Vienna

1986-1987: Research Associate at the Institute of Clinical Chemistry and Pathobiochemistry of the RWTH Aachen, Germany

 1987-1992: Postgraduate clinical education (Training in Medical and Chemical Laboratory Medicine) at the Diagnostic Laboratories (Division of Biochemistry)   of the  2nd  Departement of Surgery, University of Vienna

September, 1992: Accreditation as ”Facharzt für Med. und Chem. Laboratoriumsdiagnostik” (Specialist for Medical and Chemical Laboratory Diagnosis) by the Austrian Medical Chamber

Oktober, 1992:- up to the movement of the Institutes: Head of the Diagnostic Laboratories  of the 1st  and 2nd  Departement, University of Vienna

March, 1994: Awarded the title ”Universiätsdozent” (venia docendi) for Clinical Biochemistry

April – November, 1994: Head of the Research Laboratories of the Department of Cardiothoracic Surgery, University of Vienna

December, 1994 – August,  2002: First head doctor at the Institute of Laboratory Diagnostics, Kaiser-Franz-Josef-Hospital Vienna

January, 1995 – August, 2002: Head of the Special Laboratory for Autoimmunodiseases at the 2nd Medical Department of the Kaiser-Franz-Josef-Hospial 

January,  1998: Accreditation as ”Facharzt für Blutgruppenserologie und Transfusionsmedizin” (Specialist for Blood-Group Serology and Transfusion Medicine) by the Austrian Medical Chamber

Since September, 2002 Head of the Central Institute of Medical and Chemical Laboratory Diagnostics, University Hospitals of Innsbruck

2005 – 2013  Mitglied des Obersten Sanitätsrates (Member of the Supreme Health Council)

Since January, 2021 President of the Austrian Association for Quality Assurance and Standardization of Medical and Diagnostic Tests (ÖQUASTA)

SCIENTIFIC PUBLICATIONS

194

MEMBERSHIPS

Austrian Society of Clinical Chemistry and Laboratory Medicine (ÖGKCLM): Board Member

Austrian Association for Quality Assurance and Standardization of Medical and Diagnostic Tests (ÖQUASTA)

MD, PhD, EuSpLM

62 y.o., born in Athens (Greece), married, 4 adult children

Dr Alexander Haliassos is currently President and CEO of DIAMEDICA, a Greek reference laboratory specialized in Prenatal Diagnostics based in Athens since 2005. He also acts as Scientific Director of the Greek External Quality Assessment Scheme (ESEAP), a non-profit organization established by the Greek Ministry of Health as a spin-off of the Greek Society of Clinical Chemistry-Clinical biochemistry (GSCC-CB).

He obtained his MD diploma at the medical School of the University of Athens (1985). After his military service as medical doctor at the Greek Air Force (1985-1987), he obtained in 1991 his thesis (PhD) at the school of Medicine, National University of Athens, Greece. He pursued his scientific education at the Faculty of Medicine, Claude Bernard University, Lyon I (FR) where he obtained a thesis (DEA) on electronics applied to the medical field, and in addition one in human genetics in 1985. He completed his curriculum in France as post-doctoral fellow (1987-1991) at the Institute of Molecular Biology, Paris-Descartes University.

Dr Alexander Haliassos is registered as European Clinical Chemist (EurClinChem, now EurSpLM) since 2003. He fulfilled many responsibilities in teaching medical students at the National Research Foundation, Institute for Biological Research and Biotechnology, Athens (GR); in directing the core medical laboratory, including the Blood Bank of the Onassis Cardiac Surgery Center, the Athens Euroclinic and the Metropolitan Hospital at Athens (GR) and in participating in genetics research.

At the national level, Dr Haliassos has held a number of professional representative roles in Greece including GSCC-CB Executive Board member (1996-2003), GSCC-CB Scientific Secretary (2005-2011), General Secretary (2012-2017) and from 2017 until today President of the Greek society. Since 2011, he is a founding Member of the Scientific and Educational Committee of the GSCC-CB and a founding Member of the Greek National Registration Committee for Clinical Chemistry. He represents ESEAP at EQALM (the European Organization for External Quality Assurance Providers in Laboratory Medicine). He is an elected member of HellasLab Executive Board, the Greek section of EuroLab. On behalf of the Greek Society, he strengthened partnerships with multilateral agencies to promote the added value of laboratory medicine as a key factor to improve public health. Since 2005 he is the Greek IFCC National Representative.

At the international level, Dr Alexander Haliassos is the current Treasurer of IFCC (2021-2023) and re-elected for the next term (2024-2026). Within the federation, he served as member of the IFCC-WG on Standardization of Troponin I (WG-TNI) as well as member of the IFCC-Analytical Quality Committee (C-AQ). In 2014, he was appointed as Chair of the IFCC-Task Force on Proficiency Testing (TF-PT) that in 2017 evolved to the Committee on Proficiency Testing (C-PT), a multidisciplinary effort of IFCC in the analysis and the exploration of the Proficiency Testing and External Quality Control issues.

He intensified its engagements with the IFCC conferences and congresses acting as the Greek leader for the organization of the 10^th IFCC-General Conference, at Corfu in 2010 and as Member of the EuroMedLab Paris 2015 Congress Organizing Committee (COC). As the President of EuroMedalb Athens 2017, he demonstrated an extensive experience and expertise in management, finance and institutional partnerships within the IVD industry. Considering the number of exhibitors, the number of received abstracts, the high participation at the conference and according to the IFCC survey, the overall satisfaction of Delegates and Exhibitors, EuroMedLab Athens 2017 was a great scientific congress and a very successful financial event for IFCC.

Dr Alexander Haliassos is member of the American Association of Clinical Chemistry (AACC) since 1993, and the leading Editor of the website www.labtestsonline.gr. During the last decade, he has been involved in various scientific and professional European committees and/or working groups. As member of the “EFCC-Distance Education Programs – E-Learning”, he organized the very first EFCC e-seminars. He was a member of the EFLM-TFG (task and finish group) on the “Continuous Professional Development [CPD] crediting rules harmonization in the European Union”.

Dr Alexander Haliassos published more than 65 papers in peer-reviewed scientific journals cited 1341 times, made more than 155 oral presentations in international congresses, participated in 195 posters in international meetings and chaired one international (the EuroMedLab Athens 2017), two national congresses and several seminars and webinars on laboratory medicine subjects.

3-27-1958: Born in Vienna, Austria

1984: Degree as MD; University of Vienna, Austria

9-3-1984 to 1-14-1985: Postdoc at the Pharmacological Institute of the University of Vienna

1-15-1985 bis 12-31-1990: Head of the human medical department of Werfft Chemie und Waldheim Pharmazeutika (Sanochemia AG)

1985 to 1992: Training as specialist for Laboratory Medicine (FA für Medizinische u. Chemische Labordiagnostik, “Medical Biopathology/Clinical Pathologist”); Central Laboratory, Hospital Lainz, Vienna, Austria

5-1-1992 – 2001: Specialist (consultant) for Laboratory Medicine/ Medical Biopathology, Hospital Lainz, Vienna, Austria

Since 1998: after passing an official examination – expert for laboratory medicine (Allgemein beeideter und gerichtlich zertifizierter Sachverständiger für das Fachgebiet medizinische und chemische Labordiagnostik am Landesgericht f. ZRS/Wien, Vienna)

2-15-2001 to 10-30-2012: Senior physician, Deputy of the head, Institut für Laboratoriumsmedizin, Landesklinikum St. Pölten, St. Pölten, Austria

1-8-2002: Specialist in human genetics (additional specialist – “Additivfach”)

1-27-2003: Univ.-Doz./Univ. lecturer – Habilitation – Venia docendi – at the Karl-Franzens-Universität Graz, for „Medizinische und Chemische Labordiagnostik“ Laboratory Medicine/Medical Biopathology

2003: European Clinical Chemist (European Communities Confederation of Clinical Chemistry  -EC4 Register Commission) and 2004 EU Fellowship in the Speciality of Polyvalent Medical Biopathology

Head of the board examination for Laboratory Medicine of the Austrian Medical Association

Elected President of the Austrian Society for Laboratory Medicine and Clinical Chemistry (ÖGLMKC) 2008, 2010, 2012 and 2014

Since 2016 until now Past President of the Austrian Society for Laboratory Medicine and Clinical Chemistry (ÖGLMKC)

Official function as “Kammerrat” of the Medical Association of Lower Austria; and Vienna until 2012

Member of the UEMS for the Austrian Medical Chamber, section Laboratory Medicine

Since  11-1-2012: Head of the “Institut für Medizinische und Chemische Labordiagnostik/Central Laboratory“, Klinikum Wels-Grieskirchen, Upper Austria, Austria

11-20-2018 Appointment as honorary member of ÖGLMKC/Austrian Society of Laboratory Medicine and Clinical Chemistry www.oeglmkc.at

12-3-2018 Awarded the Golden Medal of Honor for services to the Republic of Austria/ Golden Badge of Honour of the Republic of Austria, BMGF

6-25-19 Awarded the Golden Medal of Honor of the Vienna Medical Chamber

6-26-19 Congress Award of the City of Graz for ISMD 2018 Congress of Medical University Graz

7-1-20 to 22 Official function as “Kammerrat” of the Medical Chamber of Upper Austria

2022 – Official function as “Kammerrat” of the Medical Chamber of Upper Austria

7-7-21 Received the highest award the “Johann-Florian-Heller Preis” from the Austrian Society for Laboratory Medicine an Clinical Chemistry and donated from Roche Diagnostics GmbH for special merits in the field of Laboratory Medicine and Clinical Chemistry

Numerous memberships in national and international societies

Publications in peer reviewed journals in the fields of blood coagulation, hepatitis and in different parts of Laboratory Medicine

Numerous presentations on congresses and for medical education and continuous education until now

Numerous organisation of congress and symposia, (national and international), workshops and courses until now

Member of scientific boards of medical congresses; Reviewer    

Candan HIZEL PERRY,
PhD, HDR, MBA-HC

Candan Hızel Perry upon receiving his PhD in Cellular/Molecular biology and Human Medical Genetics in 1991 at the university of Blaise Pascale in Clermont-Ferrand in France, he completed his higher doctorate “state doctorate” (HDR – habilitation to conduct research) in 2006 in New Genetics & Drug Metabolizing Enzymes at the University of Auvergne in Clermont-Ferrand in France.

Between 2007 and 2009, he did his postdoctoral training in clinical pharmacology at Yeditepe University, School of Medicine in Istanbul.
He has more than 18 years of experience in personalized medicine, including pharmacogenomics (PGx) association studies, drug target discovery, biomarker research, clinical diagnostics, health information technology in both high-income country (HIC) and in low-and middle-income country (LMIC) settings. Additionally, He has expertise in start-up biotechnology industry with a specific focus on PGx testing design, as well as genetic testing for multifactorial and polygenic diseases.

Accordingly, between 1999 and 2005, he was research director and vice-president within the R&D department of a genomics/PGx bioinformatics consulting company in Clermont-Ferrand/France and in Montreal/Canada, respectively.
In these companies He was responsible for providing and processing genomics/PGx information and production of personalized patient reports based on clinical/medical information and PGx test results by using expert system (ES) allowing automatic processing of genomics/PGx association data.

First time in Turkey in 2006, he initiated the implementation of PGx education into curriculum of the faculty of medicine and pharmacy. He promoted and strengthened interdisciplinary training and education in personalized medicine and in PGx in various academic institutions in France (Clermont-Ferrand), Turkiye (Istanbul, Eskisehir) , in Northern Cyprus (Nicosia) and Canada (Montreal).

In 2010, as principal investigator he was involved in the realization of PGx and drug safety – Pharmacogenovigilance unit under the Faculty of Pharmacy at Marmara University in Istanbul. Between 2011 and 2016 I spearheaded the implementation of center of excellence on “Personalized Medicine and Pharmacogenomics Research Centre-BIGEM and BIFAGEM” at Anadolu University in Eskisehir and Dokuz Eylül University in Izmir, Turkiye, respectively. He organized several international meetings on Personalized Medicine, in France (Vichy) in Turkiye (Istanbul, Eskisehir) as well as he has participated in the organization of international meetings in PM in Canada (Montreal).

I am a Lecturer in Nutrigenetics and Cardiovascular Health with more than 10 years’ experience in health data science, focusing on cardiovascular disease, blood lipid traits, metabolic traits and their inheritable and environmental risk factors.

After my PhD in Nutrigenetics, I joined the Wellcome Sanger Institute, as a post-doctoral researcher in the group of genetics of complex traits in humans, where I focused on genetic and gene-diet interaction analysis in cardiovascular and cardiometabolic diseases. I was involved in several consortium-led projects and co-authored several high profile publications. In 2013 I joined the Clinical Pharmacology Department, in the William Harvey Institute of Queen Mary University of London, as a senior statistical geneticist and developed sophisticated analytical pipelines for analysing large-scale genetic data, including the UK Biobank, for the investigation of coronary artery disease, blood lipids, blood pressure and anthropometric traits. I co-authored over 50 papers, including 2 publications in Nature Genetics, as a starred first author, on the genetic architecture of coronary artery disease. I have also been actively involved in the Nutrition working group within the CHARGE consortium, investigating gene-by-diet interactions in cardiometabolic traits.

In 2019 I was appointed a Lecturer in Nutrigenetics and Cardiovascular Health at William Harvey Institute and have been leading and co-leading projects relating to genetic architecture, prediction and causality of cardiovascular-related diseases in multi-ethnic populations. My research interests are focused on risk prediction for complex cardiometabolic traits, including the genetic predisposition and the lifestyle/diet/environment interplay. I am undertaking research on elucidating disease-related mechanisms in multi-ethnic cohorts and developing innovative therapeutic strategies, to alleviate or at least modulate the impact of environment on health. I have also engaged in the genetic COVID-19 research.

My work is reflected in > 100 peer-reviewed publications.

John Lamont is the Chief Scientist at Randox and also a Senior Manager. John achieved a BSc (Hons) in Biochemistry from The Queen’s University of Belfast (1979) and also an MSc in Clinical Biochemistry from Trinity College Dublin (1983). John worked in clinical biochemistry for 4 years and in Biochemistry Research at Queen’s University before joining Randox Ltd (1984) where he led the development of Biochip Array Technology (BAT). John manages molecular biology R&D, external research collaborations, develops strategic alliances with companies and manages the company’s portfolio of IP (co-author of at least 10 patents) and licensing contracts.

Adrián LLerena is the Director of Extremadura Biosanitary Research Institute and the Clinical Research Center in the University Hospital Ien Badajoz Spain. He is also Professor of Pharmacology and Clinical Pharmacology in two Medical Schools in the University of Extremadura Spain and part time in the University of Beira Interior, Portugal. He earned his PhD at University of Extremadura in 1988 and between 1989 to 1993 did his post doc at Karolinska Institute Sweden focusing on Clinical Pharmacogenetics. His teaching experience is of more than 30 years in Spain and of about 9 years in Portugal. He has supervised more than 25 PhD thesis so far. He has also been an invited as Professor in different Universities in USA such as University of California at Los Angeles 2004 Mount Sinai Medical School at NY 2005 and Miller Medical School at Miami 2006 and in Latin America such as UNAM in Mexico San Marcos in Peru Chile Brasil etc. He has published more than 200 peer reviewed papers and book chapters. He is also coordinating the RIBEF IberoAmerican network of Pharmacogenetics since 2006. He served in different Scietific societies as IberoAmerican Society of Pharmacogenomics. He has been Principal Investigator in more than 25 national and European research projects. He has also served as reviewer in all journals related to clinical pharmacology and mainly pharmacogenetics and clinical psychopharmacology. At present he is the President of the Spanish Society of Pharmacogenetics and Pharmacogenomics SEFF, Board Member of ESPT, European Society of Pharmacogenetics and Theranostics. Since 2010 is is member of the EMA PGWP, European Medicines Agency Pharmacogenomics Working Parthy.

Federica Marelli-Berg qualified in Medicine and Surgery at the University of Milan in 1989, and specialized in Hematology in 1993 at the University of Pavia, Italy. In 1997 she completed her PhD studies at the Royal Postgraduate Medical School (London) under the supervision of Professor Sir R. Lechler. In 2000 she was awarded a Governors’ lectureship by Imperial College London, where she continued her academic career to become Professor of Immunology in 2011. She joined the William Harvey Research Institute (Barts and The London SMD, Queen Mary University of London) in November 2011. In 2016, she was awarded the BHF Chair of Cardiovascular Immunology.

Her work focusses on the modulation of immune responses through control of T cell migration.

Helena Murray is a Team Leader in Molecular Diagnostics at Randox. Helena achieved a BSc (Hons) in Food Science (1995) followed by a PhD in Molecular Microbiology (1999) from Queen’s University of Belfast. Since joining Randox in 1999 Helena has helped develop mutation and genotyping assays for use on Randox’s proprietary biochip array technology within the areas of oncology, cardiovascular disease, arthritis, diabetes and infectious diseases.

POSITION TITLE: Senior Lecturer in Diabetes and Nephrology

EDUCATION/TRAINING

INSTITUTION AND LOCATION	DEGREE (if applicable)	Completion Date MM/YYYY	FIELD OF STUDY
University of Oxford	BA	07/2001	Physiology
University of Oxford	BMBCh	07/2004	Medicine
University of Exeter	PhD	07/2014	Type 1 Diabetes

Personal Statement

My research interests and experience include the study of beta cell loss in type 1 diabetes, use of biomarkers, genetics and development of the type 1 diabetes genetic risk score (T1D GRS).

During my Diabetes UK funded PhD in Exeter, I used a sensitive method of assessing beta cell function to demonstrate that most people with long duration T1D have residual beta cell function. This first analysis proved that very low concentration C-peptide in T1D represented functional beta cells and a subsequent population based assessment of endogenous insulin (UNITED) has allowed us to identify rare people with T1D with high levels of persistent beta cell function many years from diagnosis. The work has led to a $1.1m JDRF strategic research agreement (Dr Oram is Co-PI with 4 others) to study immune, genetic and clinical associations of preserved endogenous insulin in type 1 diabetes. Importantly we developed simple blood and urine methods to assess C-peptide that could easily be used to screen other cohorts.

I have continued to show a career trajectory of original thinking with development of the type 1 diabetes genetic risk score (T1D GRS) as a method to easily and cheaply measure genetic risk as a single continuous variable that is composed of multiple measures of GWAS SNPs. A key finding in our original paper was that genetic risk can be combined with other factors to better classify diabetes. This work has rapidly been received with great enthusiasm with papers and accompanying editorials already published in Diabetes, Diabetes Care (2016, 2018, 2019, in press), the Lancet Diabetes and Endocrinology (2018), Plos Medicine (2018) and Nature Medicine (2020). This innovative approach of being able to easily and cheaply tag HLA and non-HLA risk has high translational impact as both a research tool to investigate and better understand the biology of T1D and as a future diagnostic test to predict T1D and discriminate T1D from T2D and MODY.

I have continued to translate genetic risk scores for clinical use by developing a commercial biochip with a private company (Randox) with licensing agreement and launch of the first generation T1D GRS biochip in spring 2023.

Positions and Honors

Positions

2004-2005 House Officer Medicine, Royal Devon and Exeter Hospital, UK

2005 House Officer Surgery, High Wycombe Hospital, UK

2005-2008 SHO General internal medicine, Royal Devon and Exeter Hospital, UK

2008-2011 NIHR Academic Clinical Fellow, Diabetes and Nephrology, University of Exeter, UK

2011-2014 Diabetes UK Clinical Training Fellow, University of Exeter, UK

2014-2015 Alberta Health Services Transplant Fellow, University of Alberta, Canada

2015-2016 NIHR Clinical Lecturer, University of Exeter, UK

2017-  Diabetes UK Harry Keen Career Development Award, Senior Lecturer and Honorary Consultant, University of Exeter, UK

Honors

• 2023 St Geroge’s Clinical Neurscience Conference (best oral abstract P Loginovic)
• 2022 University of Exeter Dean’s Individual Career Development Fund (for Masters student P Loginovic)
• 2019 Alan Turing Institute Fellowship (for PhD student Seth Sharp*)
• 2018 American society for human genetics “reviewer’s choice” abstract award (Seth Sharp*)
• 2017 Diabetes UK Harry Keen Fellowship
• 2016 Diabetes UK in Lilly Clinical Science Poster Award(Runner up)
• 2016 World Congress of Pediatric Gastroenterology “Poster of Distinction” (Justine Turner*)
• 2015 European Diabetic Nephropathy Study Group best oral presentation
• 2014 Diabetes UK Nick Hales Young Investigator award
• 2011 Diabetes UK George Alberti Clinical Training Fellowship

Invited Lectures:

2023

• Association of Clinical Pathologists (UK) “Screening for type 1 diabetes”
• Xiangya International Diabetes and Immunology Forum
• International genetics of Ankylosing Spondylitis meeting, “Predicting future autoimmune disease with genetic risk scores”
• Finnish National Paediatric Diabetes meeting Keynote “Heterogeneity in type 1 diabetes”

2022

• ISPAD Abu Dhabi keynote debate “are genetic risk scores useful in type 1 diabetes”
• Hong Kong National Diabetes meeting “Genetic risk scores in type 1 diabetes”
• Finnish National Paediatric Diabetes meeting Keynote “Heterogeneity in type 1 diabetes”
• Scottish Study Group for Diabetes “utility of T1D GRS for classification of diabetes”
• EASD SGGD “Classification of Diabetes with genetic risk scores”
• University of Alberta Grand Rounds “Can we predict the future?”
• JDRF Canada population screening symposium/workshop: “use of genetic risk scores for T1D screening”

2021

• Qatar Precision Medicine and Functional Genomics conference “prediction of type 1 diabetes”
• Danish Diabetes Foundation “use of T1D GRS in clinical care”
• Australian Diabetes Association “T1D GRS for prediction of type 1 diabetes”
• Estonia gene forum “can we predict the future: genetic prediction of type 1 diabetes and celiac disease”
• American Diabetes Association “the role of genetics in prediction of type 1 diabetes”
• Broad institute MGH “genetic risk scores for disease classification and prediction”
• Diabetes UK Annual professional conference “improved prediction and classification of type 1 diabetes using polygenic risk scores

2020

• Immunology of Diabetes Society Balloon Debate “in type 1 diabetes beta cells are dead”
• Chinese University of Hong Kong research seminar “Genetic risk scores in type 1 diabetes; the impact of ethnicity on type 1 diabetes research”
• Diabetes UK Annual Professional Conference “”What’s new in T1DM” in the ‘Genomics and precision medicine in diabetes’ session.

2019

• Sandford Health, Sioux Falls, South Dakota “Prediction of Type 1 diabetes”
• International Congress of the European Society for Pharmacogenomics and Personalised Therapy, Seville, Faculty and invited speaker “Prediction and diagnosis of type 1 diabetes using genetic risk scores”
• Wessex Endocrine and Diabetes Association Day, invited lecture “Prediction and diagnosis of T1D using genetic risk scores”
• Levine-Riggs Diabetes Symposium, City of Hope Hospital, Pasadena, USA “Does the immune response against beta cells burnout with time?

2018

• SIDRA Medicine CUDOS Meeting, Qatar “Clinical and Research uses of Genetic risk scores”
• Barbara Davis Centre, Denver, Colorado, USA “Big data to ask simple question in T1D research.”
• Immunology of Diabetes Society “The use of Big data in T1D research”, London
• American Diabetes Association Scientific sessions “Beyond Single Nucleotide Polymorphisms―Building on Knowledge of the Genetic Architecture of Diabetes”
• Oxford Centre for Diabetes and Metabolism, University of Oxford, “Clinical and research uses of Genetic risk scores in common disease”

2017

• Hebrew University of Jerusalem, Israel, Diabetes Special Seminar “What we can learn from persistent beta cells in long duration Type 1 Diabetes”
• University of Indiana, USA Special Seminar “Genetics of Type 1 Diabetes”
• University of Chicago, USA, Kovler Diabetes Centre Special Seminar “Type 1 Diabetes Genetic Risk Scores”
• Massachusetts General Hospital, Endocrine Grand Rounds “Genetics of Type 1 diabetes”
• Diabetes UK Annual Professional Conference, UK “Emerging Leaders session”
• Texas City Wide Endocrine Rounds, Houston, USA “Heterogeneity of T1D”
• Pacific North West Research Institute, Seattle, USA “Clinical and research uses of the T1D- GRS’
• Alberta Transplant Institute Seminar Series, Edmonton, Canada “Clinical and research uses of Genetic risk scores in autoimmune disease”
• Toronto City Wide Endocrine rounds, Toronto, Canada “Novel approaches to genetic risk in T1D”

2016

• Benaroya Research Institute, Seattle, USA, “Type 1 Diabetes”
• JDRF and Welcome Trust Diabetes and Inflammation Laboratory, Cambridge UK. “C-peptide and Genetic risk score in Type 1 diabetes”
• nPOD annual meeting, Miami, USA. Invited lecture “Heterogeneity of age of diagnosis in T1D”
• Royal London Hospital “C-peptide in Type 1 Diabetes and Genetic Risk Scores”
• Munich Octoberfest Type1 Diabetes Symposium “Genetic risk score and early type 1 diabetes”
• University of Florida, USA. “Exploring heterogeneity in type 1 diabetes”
• Alberta Transplant Institute Seminar Series, University of Alberta, Canada. “Using genetics to answer simple clinical questions”
• nPOD annual meeting Tampa, Miami, USA. “Clinical and scientific relevance of preserved C-peptide in long duration type 1 diabetes”
• GTC Bio Diabetes Summit, Cambridge MA, USA. “Endogenous insulin production in type 1 diabetes”

Contributions to Science

Most people with longstanding type 1 diabetes are insulin microsecretors

Background: T1D was thought to progress to absolute insulin deficiency

Central Finding: The majority of people with even long duration T1D have some residual beta cell function. During my PhD I proved, with 2 studies, that most people with T1D have measureable serum and urine C-peptide and that levels increment after a meal. This demonstrated that most people with T1D have a few remaining functional beta cells. This raises the ongoing question of whether longstanding beta cell function in T1D represents persistent beta cells that have evaded immune attack, or alternatively represents a consistent replenishment of beta cells that are constantly being regenerated and destroyed.

Influence: These studies had a dramatic impact on the field, and raised that question of the clinical and scientific relevance of persistent beta cell function. They have changed the way we study beta cell function in Type 1 diabetes. The work has led to a $1.1m JDRF strategic research agreement (Dr Oram is Co-PI with 4 others) to study immune, genetic and clinical associations of preserved endogenous insulin in type 1 diabetes. Importantly we have developed simple blood and urine methods to assess C-peptide that could easily be used to screen other cohorts. UNITED has allowed us to develop reference ranges for blood and urine C-peptide that can be used to define clinical outliers by their residual C-peptide and will enable us to screen other large groups of patients.

1. A large, population based study confirms most people with long duration type 1 diabetes are insulin microsecretors. RA Oram, TJ McDonald, BM Shields, MM Hudson, MH Shepherd, S Hammersley, ER Pearson, AT Hattersley on behalf of the UNITED Team. Diabetes Care. 2015 Feb;38(2):323-8. doi: 10.2337/dc14-0871. Epub 2014 Dec 17. PubMed PMID: 25519449.
2. The majority of patients with over 5 years of type 1 diabetes are insulin microsecretors and have functioning beta cells. RA Oram, AG Jones, REJ Besser, BA Knight, BM Shields, RJ Brown, AT Hattersley and TJ McDonald. Diabetologia. 2014 Jan;57(1):187-91. PMID 24248267.
3. Meta-genome-wide association studies identify a locus on chromosome 1 and multiple variants in the MHC region for serum C-peptide in type 1 diabetes. Roshandel D, Gubitosi-Klug R, Bull SB, Canty AJ, Pezzolesi MG, King GL, Keenan HA, Snell-Bergeon JK, Maahs DM, Klein R, Klein BEK, Orchard TJ, Costacou T, Weedon MN; DCCT/EDIC Research Group, Oram RA, Paterson AD. Diabetologia. 2018 May;61(5):1098-1111. PubMed PMID: 29404672.
4. Persistent C-peptide is associated with reduced hypoglycaemia but not HbA1c in adults with longstanding Type 1 diabetes: evidence for lack of intensive treatment in UK clinical practice?. Marren SM, Hammersley S, McDonald TJ, Shields BM, Knight BA, Hill A, Bolt R, Tree TI, Roep BO, Hattersley AT, Jones AG, Oram RA. Diabet Med. 2019 Apr 6;. doi: 10.1111/dme.13960. PubMed PMID: 30955221.

A Type 1 Diabetes Genetic Risk Score (T1D GRS) can aid discrimination between type 1 and type 2 Diabetes, prediction of type 1 diabetes and investigation of etiology.

Background: It is becoming increasingly difficult to distinguish between type 1 and type 2 diabetes, particularly because of the increasing amount of obesity in young people. It is important to get the right diagnosis because correct treatment is dependent on this (i.e. Type 1 patients require insulin injections whereas Type 2 diabetes patients are often best treated with tablets or diet). Additionally the autoimmune process in type 1 diabetes commonly starts many years before clinical presentation, and methods that use genetic risk and additional markers to identify people before diagnosis may enable early disease modifying intervention.

Central Finding: A Type 1 diabetes genetic risk score provides a simple, cheap and accurate addition to discriminating between Type 1 and Type 2 diabetes and can be used for prediction of type 1 diabetes.

Influence: This is an important addition to correctly classifying diabetes subtype. This work also led to subsequent work that has demonstrated T1D-GRS can also discriminate Type 1 diabetes from monogenic diabetes,

Specific Role: I conceived the first key study, planned and performed analysis, and wrote the first paper with Mike Weedon. I have built on this work with ongoing funding to study rare groups identified by

1. A Type 1 Diabetes Genetic Risk Score Can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults. RA Oram, K Patel, A Hill, B Shields, TJ McDonald, A Jones, AT Hattersley and MN Weedon. Diabetes Care. 2015 Nov 17. pii: dc151111 (epub ahead of print) PMID: 26577414.
2. Analysing the frequency and phenotype of Type 1 diabetes throughout the first six decades of life: a cross-sectional analysis from the UK Biobank cohort study using an innovative genetic susceptibility-exclusion method. Thomas NJ, Jones SE, Weedon MN, Shields BM, Oram RA (joint senior), Hattersley AT. Lancet Diabetes Endocrinol. 2018 Feb;6(2):122-129. doi: 10.1016/S2213-8587(17)30362-5. Epub 2017 Nov 30.
3. Development and  standardization  of  an  improved  type 1  diabetes  genetic  risk  score  for  use  in  newborn  screening  and  incident  diagnosis  Sharp SA, Rich SS, Wood AR, Jones SE, Beaumont RN, Harrison JW, Schneider DA, Locke JM, Tyrrell J, Weedon MN, Hagopian WA*#, Oram RA*# Diabetes Care. 2019 Feb;42(2):200-207. doi: 10.2337/dc18-1785. PubMed PMID: 30655379; PubMed Central PMCID: PMC6341291.
4. A Combined Risk Score Integrating Autoantibodies, a Genetic Risk Score and Family History Advances the Prediction of Type 1 Diabetes Among High-Risk Children. Lauric A. Ferrat, Kendra Vehik, Seth A. Sharp, Åke Lernmark, Marian J. Rewers, Jin-Xiong She, Anette-G. Ziegler, Jorma Toppari, Beena Akolkar, Jeffrey P. Krischer, Michael N. Weedon, Richard A. Oram* (joint senior), William A. Hagopian*, and the TEDDY Study Group**. Nature Medicine in press 2020

Repeated measures such as home UCPCR and/or Beta2score are a novel method to assess Islet transplant function

Background: Islet and pancreas transplant function is difficult to objectively measure and so it is hard to track when and why they are failing.

Central Finding: A simple combined formula of fasting glucose, fasting C-peptide, HbA1c and insulin dose is a cheap simple, repeatable measure of beta cell function.

Influence: This will change the way that islet transplants are monitored and may also improve monitoring post immunotherapy in intervention trails and in natural history studies of type 1 diabetes.

Specific role: I designed and undertook a repeated home UCPCR study in UK islet transplant recipients. I jointly performed analysis in Beta2score study.

1. Validation Of The BETA-2 Score: An Improved Tool To Estimate Beta-cell Function After Clinical Islet Transplantation Utilizing A Single Fasting Blood Sample. RA Oram* (joint first author), S Forbes*, A Smith, A Lam, T Olateju, S Imes, AJ Malcolm, AM James Shapiro, PA Senior. Am J Transplant. 2016 Mar 28. doi: 10.1111/ajt.13807. PMID: 27017888.
2. Home Urine C-peptide Creatinine Ratio can be used to monitor islet transplant function. RA Oram, A Brooks, S Eckoldt, R Smith, P Choudary, P Johnson, M Rosenthal, M Rutter, S Forbes, TJ McDonald, JAM Shaw* and AT Hattersley*. Diabetes 2014 Jun;37(6):1737-40. doi: 10.2337/dc13-1266. Epub 2014 Mar 12. PMID: 24623023.
   

Full publication list at:

http://www.ncbi.nlm.nih.gov/sites/myncbi/149KdpZ_9njkL/bibliography/41298152/public/?sort=date&direction=ascending.

Additional Information: Research Support and/or Scholastic Performance

>£5m in last 3 years as PI, and >£3m as CoI

Ongoing Research Support

1. 2023 Randox Clinical Training Fellowships in AKI and NAFLD CoI (~£600,000)
2. 2023 MRC CiC Development of a coeliac prediction application PI (£25,000)
3. 2022 NIHR programme development grant on screening for type 1 diabetes CoI
4. 2022-2025 Randox R & D Improved Prediction of Autoimmuine disease with Genetic Risk Scores, PI, (£2.2m)
5. 2022-2024 JDRF Clinical and Economic Optimization Platform for Type 1 Diabetes Screening ($538,011)
6. 2022-2024 JDRF AL-DIAR1 “ROAD TO PREVENTION”: An Improved Combined Approach to Predict Type 1 Diabetes Risk in MENA Region through Scalable and Cost-effective Technologies, CoI ($300,000)
7. JDRF 2022-2024 A Multi-task Learning Framework for Developing Genetic Risk Score (GRS) Models of T1D for Multi-Ethnic Population, Co, I ($300, 081)
8. 2022-2025 JDRF Using genetics to better diagnose and treat adult onset T1D in multi ethnic USA population Co-I ($1.5m)
9. 2021-2024 Helmsley Charitable Trust, Extreme Early Onset T1D, from observation to mechanism, PI ($1.6m)
10. 2021-2026 NIH NIDDK APC Acute Pancreatitis Consortium, genetics lead for Indianapolis University subaward (CoI, as external collaborator)
11. 2020-2023 Helmsley Charitable Trust “Stimulated glucagon as a novel biomarker of hypoglycemia in type 1 diabetes”, PI ($915k)
12. 2020-2025 NIH R01 DK121843-01 Type 1 Diabetes Genetic Risk Score in TrialNet (CI Maria Redondo Baylor college of medicine, RO is Co-I and analysis lead, ($185 to Exeter)
13. 2020 UK Medical Research Council Confidence in Concept University of Exeter, Development of a from blood T1D GRS biochip, PI (£40k)
14. 2019-2022 JDRF Strategic Research agreement 3-SRA-2019-827-S-B Improved, cost effective prediction of type 1 diabetes in early life using combined prediction models ($530k)
15. 2018-2022 Diabetes UK PhD Studentship, Prediction of T1D in early life using the T1D GRS, biomarkers, demographics and environmental exposures in a combined risk score. I designed the study and wrote the grant application. PI (£110k)
16. 2018-2021 The Helmsley Charitable trust Breakthrough Grant, “Understanding beta-cell destruction through the study of EXtremely Early-Onset Autoimmune Diabetes (EXE-T1D, $750,000)”. Co-PI with Tim Tree Kings
17. 2018-2022 BIRAX regenerative medicine initiative, “Do people with diabetes retain functioning beta cells and can they make more”. PI (joint with Yuval D’Or, Jerusalem, Total $400k, $100k to Exeter)
18. 2017-2022 Diabetes UK Harry Keen Fellowship, Career Development award to study Extremely Early onset T1D. I wrote the grant and conceived of the study. ((£899k)
19. 2015-2018 Diabetes UK “Developing a type 1 diabetes genetic risk score to get the right diagnosis and the right treatment for patients with ” I conceived of the study with Mike Weedon, was first author on the key paper leading to this grant, and helped write the UK-based grant whilst I was living in Canada. Co-I (with 7 others, 3 hours per week),

 

Completed Research Support

1. 2018-2019 UK Medical Research Council Confidence in Concept University of Exeter, “Towards better diagnosis of celiac disease using a Celiac Genetic Risk Score”. I have led the study design and analysis strategy for this project and developed the collaboration with both the University of Alberta (Prof Justine Turner) and Randox. Co-PI (with 2 others)
2. 2017-2018 National Institute of Health, Administrative supplement to SEARCH study “use of the T1D-GRS to define diabetes subtype in young people with diabetes” (3UC4DK108173-01S1). I designed and wrote application for supplement with collaborators and SEARCH study committee. Exeter PI
3. 2014-2017         JDRF Strategic Research Agreement, “Immune Predictors of preserved endogenous insulin secretion in type 1 diabetes”. I wrote the first draft of the application, and designed the strategy for defining extreme C-peptide. My original two high impact papers prompted the grant call and successful application. PI (with 4 others, 4 hours per week),
4. 2016-2017 The Helmsley Foundation Breakthrough initiative grant, “Understanding beta-cell destruction through the study of Extremely Early-Onset Autoimmune Diabetes (EXE-T1D). I conceived the study, wrote the grant. PI with Tim Tree Kings (3 CoIs)
5. 2015-2017 WCHRI Clinical Research Seed Grant (University of Alberta), “Toward novel diagnostic solutions for children with celiac disease, using common genetic variation”. I designed analysis strategy and study plan and have brought the Genomics collaboration with the University of Exeter to The University of Alberta. Co-I (with 3 others, PI Justine Turner, 1 hour per week)
6. 2015-2016 MRC Proximity to Discover University of Exeter, “bringing new genotyping and sequencing technologies to the clinic”. I have led the study design and analysis strategy for this project and was first author on the first paper from our group with a second paper submitted for publication. Co-PI (with 2 others)

EuSpLM, Ph.D., D.Sc., Med. Lab. Specialist

Prof. Dr Tomris Ozben is the President of the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) and Past-Presidents of the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) and Balkan Clinical Laboratory Federation (BCLF).

She is the Chair of the EFLM Task Force-Green and Sustainable Laboratories (TF-GSL). She is one of the Board of Directors of the IFCC Foundation for Emerging Nations (FEN). She is the FORUM Consultant of the IFCC Task Force-Young Scientists.

She is the Honorary member of the Italian Society of Clinical Chemistry and Clinical Molecular Biology (SIBioC) and Slovak Society of Clinical Biochemistry (SSKB). She is the supervisor for the Doctorate Program entitled “Clinical and Experimental Medicine” at the Medical Faculty, University of Modena and Reggio Emilia, Italy.

She is an external examiner for the Post-graduate Master and Ph.D. education at the University of Zimbabwe, College of Health Sciences, Department of Chemical Pathology.

Over her tenure at Akdeniz University, Prof. Ozben has been the Vice Rector, General Director of the Central Laboratory of the University Hospital, and Chair of the Dept. of Medical Biochemistry, Ethical Committee member for Clinical studies.

She works in the identification of early diagnostic and prognostic markers in cancer, acute and chronic diseases, liquid profiling/biopsy in cancer, validation of new tests, and laboratory management.

She is the Editorial Board member of several Scientific Journals. She has published over 200 papers, edited several books, and invited to speak at more than 300 international conferences.

 

 

A. Personal Statement

Guillaume Paré is Director of the Clinical Research Laboratory and Biobank (CRLB) – Genetic and Molecular
Epidemiology Laboratory (GMEL). He is also Deputy Director of the Thrombosis and Atherosclerosis Research
Institute (TaARI), a Professor of Pathology and Molecular Medicine, a Professor in the Department of Health
Research Methods, Evidence and Impact, and a University Scholar at McMaster University. A medical biochemist
with board certification from the Royal College of Physicians and Surgeons of Canada, Dr. Paré completed a
Master’s in Human Genetics at McGill University under the supervision of renowned geneticist Thomas Hudson.
He further trained in genetic epidemiology with Paul Ridker at Harvard Medical School. His clinical interests are
centered on lipoprotein disorders, obesity and cardiovascular disease prevention, with research interests in
cardiovascular genetics, biomarker development and pharmacogenomics. Dr. Paré’s research combines highthroughput
biomarker screens with genetics, bioinformatics and epidemiology to identify novel cardio-metabolic
biomarkers. He has published more than 250 original contributions in peer-reviewed journals, all related to his
research program in cardiovascular disease and genetics. These include first or last authored articles in the NEJM,
Lancet, Circulation, EHJ, Stroke, JACC, PloS Genetics, Circulations Genomics and Precision Medicine and
AJHAG. His work has been sited over 35,000 times with a corresponding h-index of 80. He was inducted to the
Royal Society of Canada’s College of New Scholars, Artist and Scientists in 2018.

B. Positions and Honors

Positions

2019-pres. Professor, Dept. of Pathology and Molecular Medicine; Joint app’t, CE&B
2014-2019 Associate Professor, Dept. of Pathology and Molecular Medicine; Joint app’t, CE&B
2009-pres. Medical Biochemist- Hamilton Regional Laboratory Medicine Program, FHS, McMaster U.
2009-pres. Director, Genetic and Molecular Epidemiology Laboratory, McMaster University
2009-2014 Assistant Professor, Dept. of Pathology & Molecular Medicine; Joint app’t, HEI (formerly
CE&B), McMaster University
2009-2012 Visiting Scientist, Harvard Medical School

Affiliations (McMaster University)

2019-2024 Associate Member, Department of Medicine. FHS
2018 Jan- Member, Global Health Graduate Studies Program
2017 Oct- Member, Biochemistry and Biomedical Sciences Graduate Studies Program

Other Experience and Professional Memberships

2020-pres Committee Member, Provincial Advisory Committee (PAC) for the Canadian Statistical Sciences
Institute (CANSSI)
2019-pres Committee Member, American Heart Association (AHA) – GPM (Genomic and Precision Medicine)
& EPI Molecular Determinants of Cardiovascular Health Committee of the Council on Genomic and
Precision Medicine
2018-pres Medical Biochemistry Residency Program Director, McMaster University
2017-pres Member, European Association for the Study of Diabetes
2015-pres Member, American Heart Association
2014-pres Editorial Board Member– Arteriosclerosis, Thrombosis and Vascular Biology
2014-pres Editorial Board Member– Canadian Journal of Cardiology
2014-2016 International Genetic Epidemiology Society – annual meeting planning committee member
2013-2015 International Stroke Genetics Consortium– Scientific Steering Committee member
2012 Guest Editor- PLoS Genetics
2012 International Editorial Board Member- Journal of the Royal Society of Medicine Cardiovascular
Disease
2010-pres Statistical Reviewer, European Heart Journal
2010 Associate Editor, BMC Medical Genetics
2005-pres Member, American Society of Human Genetics (ASHG)

Additional Contributions:

Dr. Paré is frequently invited to review manuscripts (Nature Genetics, PLoS Genetics, American J Human
Genetics, NEJM, JAMA, EJH, Circulation, etc.) and grants by leading national and international scientific
organizations, such as the Canadian Institutes for Health Research, Wellcome Trust (UK), Michael Smith
Foundation (Canada), National Institutes of Health (USA), Agence Nationale de Recherche (France) and
Netherlands Organization for Scientific Research. Dr. Paré is also recognized by the Canadian scientific
community as an expert in cardiovascular genetics and is a member of the Editorial board of ATVB and the
Canadian Journal of Cardiology. Finally, Dr. Paré has given 225 lectures since 2009 – locally, regionally,
nationally, and internationally, spanning 25 countries. He is a member of the Committee on
Scientific Sessions Program of the AHA.

Honors and Awards:

2021 Canadian Association of Medical Biochemists, Research Achievement Award
2019 Excellence in Graduate Studies Supervision Award, McMaster University
2018 AHA selected paper (Theriault et al., Circ Genom Precis Med 11:e001849, 2018) as one of the ‘Top
10’ Advances in Cardiovascular Research in 2018’
2018 Royal Society of Canada’s College of New Scholars, Artists and Scientists; inducted Nov.2018
2018-2022 University Scholar Prize Award – McMaster University
2015 McMaster University – A celebration of Research Excellence recognition
2014-2019 Ontario Ministry of Economic Development & Innovation- Early Researcher Award (ERA)
2013 Mrs. Asha Verma Memorial Translational Lectures in Cardiovascular Medicine Award- SMH- TO.
2012 CIHR Institute of Genetics Maud Menten New Principal Investigator Finalist Prize- MMC- 124494
2010 CIHR Institute of Genetics, Maud Menten New Principal Investigator Prize (Clinical)- MMC- 108725
2010 Canada Research Chair, Genetic and Molecular Epidemiology
2009 4th Annual Canadian Statistical Genetics Meeting, Best trainee oral presentation
2007 School of medicine, University of Montreal, Dean’s honor list for academic excellence
2007 Fonds de la recherche en santé du Québec (FRSQ), Fellowship scholarship
2005 Annual research meeting of University of Montreal Health Center, Best poster presentation
2004 Annual meeting of the Quebec Association of Medical Biochemists, Best scientific presentation
2002 School of Medicine, University of Montreal, Dean’s honor list for academic

C. Contributions to Science

Research Contributions: Development of methodologies in genetic epidemiology
Finding gene-gene and gene-environment interactions is a challenge in genetic epidemiology and my group
developed a statistical method to identify such interactions (Paré et al. PLoS Gen 2010; Deng et al. Eur J Hum
Gen 2014). We also developed an approach to test regional genetic associations (Paré et al. PLoS Gen 2015)
that we extended to estimate polygenic regional variance from summary statistics (Paré et al. Sci Rep 2016) and
machine-learning methods to determine polygenic risk scores (Paré et al. Sci Rep 2017). Such methods facilitated
the prediction of EOCAD and the AHA named our study one of 2018’s top 10 most influential advancements in
heart and stroke research (Theriault et al. Circ Genom Precis Med 2018; please see: https://tinyurl.com/qreswc3).
We pioneered the use of Mendelian randomization (MR) to show that diabetes is causally involved in CAD (Ross
et al. EHJ 2015), and to identify biomarkers and drug targets for ischemic stroke (Chong et al. Circ 2019),
biomarkers linking metabolically-favorable adiposity with type 2 diabetes risk (Pigeyre et al. Diabetes Care 42
2019), and show that HER2 is a causal mediator of the protective effect of ACE inhibitors on kidney function
(Sjaarda et al. JASN 2018). We also developed a reverse MR method to identify markers of CKD (Mohammadi-
Shemirani et al. Clin Chem 2019) and methods to explore relationships between genetic ancestry and biomarker
levels (Sjaarda et al. AJHG 2020).

Identification of genetic determinants of cardiovascular diseases

We identified genetic determinants of lipoprotein concentrations (Paré et al. AJHG 2007; Paré et al. Circ 2019),
glucose metabolism (Paré et al. PLoS Gen 2008), homocysteine concentrations (Paré et al. Circ Gen 2009), and
markers of inflammation (Paré et al. PLoS Gen 2011). I belonged to studies detailing the role of genetics in CVDs
(Ridker et al. Circ Gen 2009; Paynter et al. JAMA 2010) and consortia discovering loci associated with CAD (Zhao
et al. Nat Genet 2017; Patel et al. Circ Genom Precis Med 2019), stroke (MEGASTROKE, Nat Commun 2018;
ISGC, Neurology 2019; Nat Genet 2018; Lancet Neurol 2016), and atrial fibrillation (Roselli et al. Nat Genet 2018).
More recently we have described the role of ACE2 in CVD (Lancet 2020).

Pharmacogenetics of antiplatelet and anticoagulant agents

Clopidogrel is used to reduce the risk of heart attack and stroke. Individuals with a CYP2C19 loss-of-function (LOF)
allele have an attenuated benefit from clopidogrel, leading to an FDA warning. Our studies of acute coronary
syndrome and atrial fibrillation showed that the negative effects of LOF alleles do not apply to all
populations. Rather, the CYP2C19 gain-of-function allele may be equally or more important than the LOF allele
in specific populations (Paré et al. N Engl J Med 2010; Paré et al. Circ Gen 2012). We also described a
pharmacogenetic association between CES1 and bleed risk with the anticoagulant, dabigatran (Paré et al. Circ
2013), and described an association between a COX-2 variant and its effect on aspirin (Ross et al. EHJ 2014).

Training of High Qualified Personnel:

In the last 13 years Dr. Paré has mentored 132 trainees. He has been directly involved in the training of 15
Postdoctoral Fellows, 9 PhD candidates (3 current), 13 MSc students (5 current), and 52 Undergraduate students
(11 current). He supervises Medical Residents in Lipid Clinics on an ongoing basis. 12 of his undergraduate
students have been accepted or have completed Medical School, 1 completed School of Dentistry, and 5 pursued
PhD studies. He has also supervised 8 international students (1 current), and served as Committee Member for
numerous MSc and PhD students.

List of Publications from US National Library of Medicine; National Institutes of Health- PubMed.gov

https://www.ncbi.nlm.nih.gov/myncbi/guillaume.pare.1/bib
liography/public/
Citations of Peer-Reviewed Articles (using Google Scholar)- since 2009
*Note- may include self-citations
37,380
h-index 80
Number of Publications (includes Peer-Reviewed Journal Articles, Accepted/ In Press
Journal Articles, Editorials & Commentaries, Book Chapters)
278
Below are some selected publications.
1. Mohammadi-Shemirani P, Chong M, Narula S, Perrot N, Conen D, Roberts JD, Thériault S, Bossé Y,
Lanktree MB, Pigeyre M, Paré G.- ‘Elevated Lipoprotein(a) and Risk of Atrial Fibrillation: An Observational
and Mendelian Randomization Study.’ J Am Coll Cardiol. 2022 Apr 26;79(16):1579-1590. doi:
10.1016/j.jacc.2022.02.018.PMID: 35450575
2. Chong M, Mohammadi-Shemirani P, Perrot N, Nelson W, Morton R, Narula S, Lali R, Khan I, Khan M,
Judge C, Machipisa T, Cawte N, O’Donnell M, Pigeyre M, Akhabir L, Paré G.- ‘GWAS and ExWAS of
blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia.’
Elife. 2022 Jan 13. 11: e70382. doi: 10.7554/eLife.70382. PMID: 35023831
3. Chong M, Langhorne P, Narula S, Morton RW, Judge C, Akhabir L, Cawte N, Pathan N, Lali R,
Mohammadi-Shemirani P, Shoamanesh A, O’Donnell M, Yusuf S, Langhorne P, Paré G. Mitochondrial
DNA copy number as a marker and mediator of stroke prognosis: Observational and Mendelian
Randomization analyses.’ Neurology. 2021 Dec.8. PMID: 34880091
4. Machipisa T, Chong M, Muhamed B, Chishala C, Shaboodien G, Pandie S, de Vries J, Lian N, Joachim A,
Daniels R, Ntsekhe M, Hugo-Hamman CT, Gitura B, Ogendo S, Lwabi P, Okello E, Damasceno A, Novela
C, Mocumbi AO, Madeira G, Musuku J, Mtaja A, Elsayed A, Elhassan HHM, Bode-Thomas F, Okeahialam
BN, Zuhlke LJ, Mulder N, Ramesar R, Lesosky M, Parks T, Cordell HJ, Keavney B, Engel ME, Paré G.
Association of novel locus with rheumatic heart disease in black African individuals: Findsing from the
RHDGen Study. JAMA Cardiology. 01 Sep 2021;6(9):1000-1011. PMID: 34106200
5. Lali R, Chong M, Omidi A, Mohammadi-Shemirani P, Le A, Cui E, Paré G. Calibrated rare variant genetic
risk scores for complex disease prediction using large exome sequence repositories. Nat Commun. 2021
Oct 6;12(1):5852. PMID: 34615865
6. Narula S, Yusuf S, Chong M, Ramasundarahettige C, Rangarajan S, Bangdiwala SI, van Eikels M,
Leineweber K, Wu A, Pigeyre M, Paré G. (2020) Plasma ACE2 and risk of death or cardiometabolic
diseases: a case-cohort analysis. Lancet. 396(10256):968-976
7. Sjaarda J, Gerstein HC, Kutalik Z, Mohammadi-Shemirani P, Pigeyre M, Hess S, Paré G. Influence of
Genetic Ancestry on Human Serum Proteome. (2020) Am J Hum Genet.106(3):303-314
8. Chong M, Sjaarda J, Pigeyre M, Mohammadi-Shemirani P, Lali R, Shoamanesh A, Gerstein H, Paré G.
(2019) Novel drug targets for ischemic stroke identified through Mendelian randomization analysis of the
blood proteome. Circulation.140(10):819-830
9. Paré G, Çaku A, McQueen M, Anand SS, Enas E, Clarke R, Boffa MB, Koschinsky M, Wang X, Yusuf S,
on behalf of the INTERHEART Investigators. (2019) Lipoprotein(a) levels and the risk of myocardial
infarction among seven ethnic groups. Circulation. 139(12):1472-1482
10. Sjaarda J, Gerstein HC, Chong M, Yusuf S, Meyre D, Anand S, Hess S, Paré G. (2018) Blood CSF1 and
CXCL12 as causal mediators of coronary artery disease. J Am Coll Cardiol. 72(3):300-310

D. Additional Information: Research Support

Ongoing Research Support (as PI)

(PI: Paré, G) 2019-2024
Canada Foundation for Innovation- John R. Edwards Leader Fund (CFI-JELF)
High throughput whole genome sequencing for improved disease risk prediction

(PI: Paré, G) 04/01/2019-03/31/2022
HSFC 2019/2010 GIA
Polygenic risk scores for the prediction of early coronary artery disease

(PI: Paré, G) 09/01/2018-08/31/2022
Canadian Institutes of Health Research, Project Grant Spring 2018
Risk prediction of cardio-metabolic diseases using an integrated genomic-proteomic approach

(PI: Paré, G) 04/01/2018-03/31/2021
Heart and Stroke Foundation of Canada 2017/2017 GIA
An integrated genomic-biomarker approach for the discovery of novel causal mediators of cardiometabolic
diseases

(PI: Paré, G) 04/01/2018-03/31/2022
Ontario Ministry of Economic Development and Innovation- Early Researcher Award (MEDI-ERA)
Developing novel blood tests to predict complications of diabetes
Brief Description: Salary support for a post-doc in genetic epidemiology

(PI: Paré, G) 04/01/2018-03/31/2022
Population Health Research Institute (PHRI)
Developing novel blood tests to predict complications of diabetes
Brief Description: Salary support for a post-doc in genetic epidemiology

Completed Research Support (as PI; last 4 years)

(PI: Paré, G) 09/2020-08/2021
Roche Diagnostics
Post discharge after surgery Virtual Care with Remote Automated Monitoring technology

(PI:Paré, G) 04/2018-03/2021
Heart and Stroke Foundation of Canada
An integrated genomic-biomarker approach for the discovery of novel causal mediators of cardiometabolic diseases

(PI:Paré, G)
Bayer (Global) 01/2018-12/2020
NAVIGATE – ESUS Biomarkers

(PI:Paré, G) 01/2018-12/2020
Bayer (Global)
COMPASS Biomarkers

(PI: Paré, G) 09/01/2017-08/31/2019
Canadian Institutes of Health Research, Personalized Health Catalyst Grant
Machine-learning algorithms for gene score prediction of cardio-metabolic traits

(PI: Paré, G) 11/01/2014-09/30/2019
CRC – Renewal File No.950-230055
Canada Research Chair in Genetic and Molecular Epidemiology; Tier 2- Renewal

(PI: Paré, G) 07/01/2015-06/30/2018
Heart and Stroke Foundation of Canada
Genetic determinants of early stroke- A population study from INTERSTROKE

(PI: Paré, G)
CIHR Project Scheme: 2016 1st Live Pilot Transitional funding 07/01/2016-06/30/2017
Genetic and molecular determinants of early onset coronary artery disease

(PI: Paré, G)
CIHR- Industry –Partnered Collaborative Research, Funding Ref.No. 125794 04/01/2013-03/31/2017
Integration of clinical, biomarker, and genetic data for prediction of adverse outcomes in diabetes

Professor

Work Address:  Department of Molecular and Clinical Pharmacology, Wolfson Centre for Personalised Medicine, University of Liverpool, 1-5 Brownlow Street, Liverpool, L69 3GL

 Higher Education and Other Qualifications:

M.B., Ch.B. (Hons) 1985 University of Liverpool

M.R.C.P. (U.K.) 1988 The Royal College of Physicians

Ph.D. 1993 University of Liverpool

FRCP (Edin) 1999 Royal College of Physicians of Edinburgh

FRCP 2000 Royal College of Physicians of London

FBPhS 2004. Fellow of the British Pharmacological Society

FMedSci 2013. Fellow of the Academy of Medical Sciences

Academia Europaea, 2016, Member of Academia Europaea

FFPM (Honorary), 2017, Honorary Fellowship of the Faculty of Pharmaceutical Medicine

Employment History:

David Weatherall Chair of Medicine (July 2013 – )

Director of the NW England MRC Clinical Pharmacology Training Scheme (October 2010 – )

Director MRC Centre for Drug Safety Science (July 2014 – ).

Director Wolfson Centre for Personalised Medicine (Sept 2009 – )

Director HDR UK North (May 2020 – )

NHS Chair of Pharmacogenetics (Sept 2007-)

Honorary Consultant Physician (January 1996 – )

Status: Clinically qualified and clinically active

ORCID ID: 0000-0002-7534-7266

Funding:  University of Liverpool

Previous Posts:

Executive Director, Liverpool Health Partners (June 2015 – May 2018)

Associate Pro-Vice Chancellor (Clinical Research) (Nov 2013 – Mar 2018)

Professor of Clinical Pharmacology, University of Liverpool  (July 2001 – July 2013)

Senior Lecturer and then Reader, Dept of Pharmacology, University of Liverpool (1996 – 2001) Lecturer, Department of Pharmacology, University of Liverpool (1994  – 1995)

Senior Clinical Research Fellow, University of Liverpool (1992 – 1994)

MRC Training Fellow, University of Liverpool (1989 – 1992)

Selected Awards and Positions of Trust:

Knights Bachelor, Queen’s Birthday Honours, June 2015, for services to Medicine

Non-Executive Director, NHS England/Improvement (March 2019  –  )

Member, Governing Council of the Medical Research Council (2018 – )

Member, REF sub-panel UoA1: Clinical Medicine (2018 – 2022)

President, British Pharmacological Society (2020-2021)

Chair, Commission on Human Medicines (2021  –  )

President, Association of Physicians (2023 – 2024)

Medical Trustee, British Heart Foundation (2021 – )

Supervisory Experience:

Completed: 59 x PhD Students, 7 x MD students, 2 x MPhil students

Ongoing: 7 PhD, 1 MD

Selected Grant Support:

I have raised a total of over £100M of project, programme, infrastructure, and Centre grant funding from a number of funders in the UK and EU, including being theme lead on several IMI grants.  I led 6 Universities and 6 NHS Trusts across the North to develop HDR UK North (£3.4M). 

• Department of Health Chair in The Department of Health, £3.3 million (£33,000 supplement; 2009), 2007-2014 (Principal investigator, 4 co-applicants).
• Wolfson Centre for Personalised Wolfson Foundation. £2 million for capital funding (Principal applicant).
• MRC Centre for Drug Safety MRC. £3.7 million. 2008-2014  (Deputy  Director). Renewed from 1 April 2014 £2.7 million (Director). Supplement £200,000 (2020-2022).
• North West England MRC Fellowships in Clinical Pharmacology and MRC (and Industry partners including GSK, AZ, ICON); £3,012,100 (£1,598,751 from MRC). 2010-2016 (Programme Leader).
• The interactions between Clostridium difficile, intestinal microbiota and the host response in hospitalised MRC Program Grant; £2,400,000; 2012-2017 (co-applicant, 4 co- investigators).
• Applying innovative technologies to improve the benefit-risk ratio of drugs: developing a national resource underpinned by the infrastructure of the MRC Centre for Drug Safety Medical Research Council Clinical Research Infrastructure Award.; £5,000,000 (Principal applicant, 4 co- investigators).
• Ubiquitous pharmacogenomics. EU H2020 Application (Co-ordinator Prof HJ Guchelaar, Netherlands); Total value of award €15,000,000 (awarded to Liverpool €1,078,195).  2016-2021 (Principal applicant Liverpool, 1 co-investigator).
• North West England MRC Fellowships in Clinical Pharmacology and Therapeutics. MRC (and Industry partners Roche, UCB, Eli Lilly and Novartis); £3,052,098. 2016-2022 (Programme Leader).
• NIHR Global Research Group on Warfarin Anticoagulation. NIHR; £1,954,156. 2017-2020. (Principal investigator); Supplement £480,000 (2020-2022)
• HDR UK North (Northern Better Care Partnership, £3,400,000. 2020-2023 (PI).
• An adaptive-design randomised placebo-controlled trial of baclofen in the treatment of alcohol use disorder in patients with liver cirrhosis (BASIS). NIHR HTA, £1,558,377, 2021-2026 (Co-chief investigator).
• Multimorbidity mechanism and therapeutics research collaborative. MRC/NIHR, £3,769,573, 2021-2023 (Co-investigator, Liverpool lead).
• AGILE: Seamless Phase I/IIa Platform for the Rapid Evaluation of Candidates for COVID-19 treatment. MRC DPFS, £3,794,728, 2021-2023 (co-applicant).
• AGILE: Seamless Phase I/IIa Platform for the Rapid Evaluation of Candidates for COVID-19 treatment. Wellcome Therapeutics Accelerator grant, £3,069,077, 2021-2023 (co-applicant).
• Personalising renal function monitoring and interventions in people living with heart failure: RENAL-HF. NIHR Program Grant, £2,527,221, 2021-2026 (Principal applicant).
• Understanding Mechanisms of Thrombosis and Thrombocytopenia in COVID-19 and with SARS-CoV-2 Vaccines. NIHR/DHSC, £1,975,065, 2021-2023 (Principal applicant).
• Two-way risk communication mobile application versus traditional methods of adverse drug reaction reporting in Uganda: a randomized controlled trial. MRC, £203,257, 2022-2025 (Co-investigator).
• Understanding adverse drug reactions of dolutegravir and isoniazid in HIV-positive Ugandans: incidence, risk factors, management and patient-reporting. MRC, £749,995, 2023-2026 (African Research Leader Award to Dr Ronald Kiguba, Main sponsor).
• GMSA: Genomic Medicine Service Alliance, Manchester University NHS Foundation Trust, £231,505, 2020-2023 (Principal applicant), supplement £10,000 (2022-2023).
• A personalised approach to manage adverse reactions to CFTR modulator therapy in patients with cystic fibrosis. MRC, £795,534, 2022-2025 (co-investigator).
• Improving the utility of dihydropyrimidine dehydrogenase genetic testing in the NHS. NHS Race and Health Observatory, £260,650, 2022-2024 (Principal applicant).

Dr. Quemeneur (PharmD, PhD, HDR) is the executive vice-president, and chief scientific officer of Transgene, a French biopharmaceutical company developing immunotherapies in oncology (www.transgene.fr/en).

His background is biochemistry, and pharmacology/toxicology with a large experience both in the industry (Biomerieux, Hoechst, Amgen), and in government labs (French Army Health Service, and CEA). He joined Transgene in 2015, with the mission to renovate the product portfolio, and to boost innovation on cancer vaccines and oncolytic viruses.

Beside his scientific achievements in protein engineering, nuclear toxicogenomics, and molecular virology, he has always been passionate about innovation, technology transfer, and more generally at lowering the barrier between basic science and applications. He has been a senior advisor, and investor in several startups, as well as a board member of larger organizations in healthcare, or agronomy.

Name:	Mark William Ruddock
Postal Address at Institution:	Randox Laboratories Ltd Clinical Studies Group Randox Science Park 30 Randalstown Road Antrim County Antrim BT41 4FL Northern Ireland United Kingdom

Academic Qualifications, Relevant Training and Courses

From	To	Institution/Course provider	Qualification obtained (degree level and subject e.g. MSc Biology)/ relevant training or course attended
1998	2000	Harvard University, Boston, US	Research Fellow in Medicine
1995	1998	Ulster University, Belfast, UK	PhD – Oncology
1992	1995	Ulster University, Belfast, UK	BSc (Hons) – Biochemistry

Employment History

From	To	Position Title	Institution	Location
2020	Present	Occasional Lecturer	Queens University Belfast	Belfast, NI, UK
2001	Present	Clinical Studies and Development Manager	Randox Laboratories Ltd	Crumlin, Antrim, NI, UK
2000	2001	Lecturer	Ulster University Belfast	Belfast, NI, UK
1998	2000	Research Fellow in Medicine	Harvard Medical School	Boston, MA, US

Recent Publications 2022 – 2023

1. Watt J, Kurth MJ, Reid CN, Lamont JV, Fitzgerald P, Ruddock MW. Non-alcoholic fatty liver disease-A pilot study investigating early inflammatory and fibrotic biomarkers of NAFLD with alcoholic liver disease. Front Physiol. 2022 Dec 15; 13:963513. doi: 10.3389/fphys.2022.963513. PMID: 36589452; PMCID: PMC9801299.
2. Duggan B, O’Rourke D, Anderson N, Reid CN, Watt J, O’Kane H, Boyd R, Curry D, Evans M, Stevenson M, Kurth MJ, Lamont JV, Fitzgerald P, Ruddock MW. Biomarkers to assess the risk of bladder cancer in patients presenting with haematuria are gender-specific. Front Oncol. 2022 Sep 23; 12:1009014. doi: 10.3389/fonc.2022.1009014. PMID: 36212463; PMCID: PMC9539269.
3. Awuah A, Moore JS, Nesbit MA, Ruddock MW, Brennan PF, Mailey JA, McNeil AJ, Jing M, Finlay DD, Trucco E, Kurth MJ, Watt J, Lamont JV, Fitzgerald P, Spence MS, McLaughlin JAD, Moore TCB. A novel algorithm for cardiovascular screening using conjunctival microcirculatory parameters and blood biomarkers. Sci Rep. 2022 Apr 21;12(1):6545. doi: 10.1038/s41598-022-10491-7. PMID: 35449196; PMCID: PMC9023476.
4. Tonry CL, Evans RM, Ruddock MW, Duggan B, McCloskey O, Maxwell AP, O’Rourke D, Boyd RE, Watt J, Reid CN, Curry DJ, Stevenson M, Young MK, Jamison CS, Gallagher J, Fitzgerald SP, Lamont J, Watson CJ. Clinical features and predictive biomarkers for bladder cancer in patients with type 2 diabetes presenting with haematuria. Diabetes Metab Res Rev. 2022 Sep;38(6): e3546. doi: 10.1002/dmrr.3546. Epub 2022 May 22. PMID: 35578575; PMCID: PMC9542076.
5. Harkin C, Cobice D, Brockbank S, Bolton S, Johnston F, Strzelecka A, Watt J, Kurth MJ, Lamont JV, Fitzgerald P, Moore T, Ruddock MW. Biomarkers for Detecting Kidney Dysfunction in Type-2 Diabetics and Diabetic Nephropathy Subjects: A Case-Control Study to Identify Potential Biomarkers of DN to Stratify Risk of Progression in T2D Patients. Front Endocrinol (Lausanne). 2022 Jun 29; 13:887237. doi: 10.3389/fendo.2022.887237. PMID: 35846341; PMCID: PMC9276980.
6. McNally CJ, Watt J, Kurth MJ, Lamont JV, Moore T, Fitzgerald P, Pandha H, McKenna DJ, Ruddock MW. A Novel Combination of Serum Markers in a Multivariate Model to Help Triage Patients Into “Low-” and “High-Risk” Categories for Prostate Cancer. Front Oncol. 2022 May 19; 12:837127. doi: 10.3389/fonc.2022.837127. PMID: 35664747; PMCID: PMC9161691.
7. Ruddock MW, Watt J, Kurth MJ, et al. (2022) Post-Traumatic Stress Disorder: Identifying Potential Differences in Participant Response to CAPS-5 Life Events Checklist Questionnaire Based on Gender. J Depress Anxiety Disord. 4(1):127-131.
8. Maguire, D., Armour, C., Lagdon, S., Ruddock, M., Moore, T., & Milanak, M. (2022). Improving sleep in a population at high risk of trauma: A pilot study examining self-reported sleep, psychological symptomology and actigraphy measured night-time sleep. European Psychiatry, 65(S1), S809-S810. doi: 10.1192/j.eurpsy.2022.2094.
9. Harkin C, Cobice D, Watt J, Kurth MJ, Brockbank S, Bolton S, Johnston F, Strzelecka A, Lamont JV, Moore T, Fitzgerald P and Ruddock MW (2022) Analysis of reactive aldehydes in urine and plasma of type-2 diabetes mellitus patients through liquid chromatography-mass spectrometry: Reactive aldehydes as potential markers of diabetic nephropathy. Front. Nutr. 9:997015. doi: 10.3389/fnut.2022.997015.
10. Harkin, C., Smith, K.W., MacKay, C.L., Moore, T., Brockbank, S., Ruddock, M., Cobice, F.Spatial localization of β-unsaturated aldehyde markers in murine diabetic kidney tissue by mass spectrometry imaging. Anal Bioanal Chem.414, 6657–6670 (2022).
11. Ruddock MW, Watt J, Kurth MJ, et al. (2023) Sleep Disturbances and Chronic Pain as Potential Indicators for Therapeutic Intervention in Subjects with Post-Traumatic Stress Disorder. J Depress Anxiety Disord. 5(1):141-150.
12. Ruddock MW et al. Stratifying risk of bladder cancer in patients who present with haematuria using biomarkers and machine self-semantic learning. Journal of Medical Internet Research (2023) (in press).

Additional Information

MSc and PhD Industrial Supervisor for Ulster University Belfast and Queens University Belfast; Lecturer in Biomarker Discovery and Cardiovascular Disease for Queens University (BSc and MSc course)

Prof. Dr. Ron van Schaik (PhD, FACB) is a registered European Specialist Laboratory Medicine and a Full Professor of Pharmacogenetics. He is head of the Dept. Clinical Chemistry at the Erasmus MC University Medical Center Rotterdam, and Director of the International (IFCC) Expertcenter for Pharmacogenetics. Main interest is the implementation of pharmacogenetics in clinical practice. He published over 350 peer reviewed articles in this field. Specific research topics oncology, cardiology, psychiatry and pain medication. Prof van Schaik participates in several national and international groups on Pharmacogenetics, such as ESPT (Co-Founder/Past President), PGRN (founding member), CPIC, DPWG, IUPHAR, EMA, PharmVar and AMP. In 2001, he received the Ortho Clinical Diagnostics Award for Outstanding Research, in 2009 the AACC Outstanding Speaker Award, and in 2010 the AACC/Mol Pathology Award for Outstanding Scientific Research. h-index 75 (Google Scholar).

Sofia Siest (Sophie Visvikis-Siest), PhD, was born in Athens, Greece, where she obtained a diploma of Biology. She received a PhD on Genetic Epidemiology of Cardiovascular Diseases at the University of Nancy, France.

She is Director of Research in INSERM since 2001.

She is the head of the Research Unit in Nancy: EA_1122; “Interactions Géne-Environnement en Physiopathologie Cardio-Vasculaire” (IGE-PCV) at the University of Lorraine (http://ige-pcv.univ-lorraine.fr/en/).

She is leading the Biological Resources Center (BRC): “Interactions Géne-Environnement en Physiopathologie Cardio-Vasculaire” from 2002 (BRC IGE-PCV – www.biobanques.eu/membres/, BB-0033-00051).

She is the scientific director of the STANISLAS Cohort origin project based on 1,006 families followed for 15 years (STANISLAS Family Study, SFS, epidemiologie-france.aviesan.fr/catalog/sheet).

She is actively involved in International Consortia’s Research as:

• Founder and Leader of the VEGF Consortium with 23 partners from 9 different countries (including the US and Canada) having world-renowned scientific expertise in different but complementary fields on VEGF-A, since 2015;
• Member of the MAGIC Consortium (Meta-Analyzes of Glucose and Insulin-related traits Consortium) since 2008;
• Member of the Consortium ‘CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology)’ – Inflammation working group – since 2013;
• Member of the “Social Science Genetics Association Consortium for Reproductive Behavior”, University of Groningen, Jornt Mandemakers and Nicola Barban, since 2013;
• Member of the Global Burden of Metabolic Risk Factors of Chronic Diseases Collaborating Group (NCD Risk Factor Collaboration – NCD-RisC), since 2014;

 

Her main Research interests are in the domain of public health, personalised medicine, prevention, genetic epidemiology, genomics and pharmacogenomics, cardio-vascular diseases, VEGF-A and inflammation.

She has published more than 380 papers in international scientific committee journals (ORCHID ID:0000-0001-8104-8425: https://orcid.org/0000-0001-8104-8425?lang=fr, Web of science Researcher ID: H-2324-2014http://www.researcherid.com/rid/, https://publons.com/researcher/2517903/sophie-visvikis-siest/publications/), 2 patents and has given over 100 international invited conferences.

She has a long experience in obtaining and executing public, academic, industrial and EC funded projects. She participates in the BBMRI (Biobanking and Biomolecular Resources Research Infrastructure) European Biobanking initiative and is one of the pioneers in Biobanking founded by INSERM and ANR in France.

She has 20-years of experience in the prevention field due to her involvement in the Center of Preventive Medicine in Vandoeuvre-lès-Nancy, France.

She was founding member and board member for 10 years (2011-2021) of the European Society of Pharmacogenomics and Theranostics (ESPT- www.esptnet.eu).

She is involved in the scientific organisation of congresses, meetings and courses, both in France and abroad.

She is the President of the Santorini Conferences Association (SCs) and of the “Santorini Conferences” colloquia held every 2 years since 2002 in Santorini, Greece, in the field of Genomics, Pharmacogenomics and Personalised Medicine. The next one, The 10+1 Santorini Conference: SYSTEMS MEDICINE AND PERSONALISED HEALTH & THERAPY – The Odyssey from Hope to Practice: “Patient first–keep Ithaca always in your mind”, will be held from 21 Mai to 24 Mai 2024 in Santorini.

Asst. Prof. Sanja Stankovic, MPharm, PhD, EuSpLM, has received her graduate and postgraduate education at the Faculty of Pharmacy University of Belgrade where she currently serves as a member of the Faculty Council. Currently, Asst. Prof. Stankovic is employed at University Clinical Center of Serbia, where she holds the position of Director of Center for Medical Biochemistry and Chair of General Director’ s Advisory Board. She currently holds an asst. professor position at the Department of Biochemistry, Faculty of Medical Sciences University of Kragujevac and senior research associate at the Faculty of Medicine University of Belgrade. She is a President of Serbian Committee for Clinical Biochemistry in the Ministry of Health Republic of Serbia. She is the founder and President of the Serbian Society for Pharmacogenetics and Personalized Therapy (SSPT) and Serbian Society for Clinical Laboratory Medicine and Science (SCLM). During her professional career, Prof. Stankovic has served the general secretary of ESPT; corresponding member of IFCC Emerging Technologies Division (ETD) Committee on Mobile Health and Bioengineering in Laboratory Medicine (C-MHBLM), Member of editorial Board of eJIFCC, International Journal of Clinical Practice, Drug Metabolism and Personalized Therapy, Preventive Pediatrics and corresponding member of EFLM: Science Commitee/ Working Group: Cardiac Markers. Prof. Stankovic has authored or co-authored numerous peer reviewed manuscripts. She is the founder and director of annual international symposium SERBIS (Serbian Biomarker Symposium) and Conference on Medical Laboratory Accreditation and Quality Systems (CLAQ).