Maurizio Clementi, MD

Professor of Medical Genetics
Genetica Clinica – Dipartimento di Salute Donna e Bambino
University of Padua
Via Giustiniani 3, 35128 PADOVA

 

Biography

Dr. Clementi is Professor of Medical Genetics at the University of Padova. Chief of the Genetics Unit and the Teratogen Information Service of the University hospital of Padova. He served as the 1997-2005 President of the European Network of Teratogen Information Services, as member of the Board of the European ETS, the Italian Medical Genetics Society. He was expert at the EMA in the COMP.
He is the president of the European NeuroFibromatosi group, and member of the board of the ERN ITHACA. his research interest include: prenatal diagnosis, teratology, medical genetics, rare diseases
He published more than 240 paper in International peer reviewed journal, with a total of more than 6,000 citations and HI 45. He is reviewer of several high IF journals.

Research Interest

His general research interests include: Prenatal diagnosis, Teratology and Medical Genetics

Scientific Activities

Scientific Activity

Author of 224 papers in peer reviewed journals. HI 45. Citation >6500

Publications

Selected papers

1. Cassina M. Cerqua C, rossi S, Salviati L, Martini A, Clementi M, Trevisson E. A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. European Journal of Human Genetics, 2017; 25: 371-5
2. Russo S, Calzari L, Mussa A, Mainini Cassina M, Di Candia S, Clementi M et al. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. Clinical Epigenetics 2016; 8: art.23
3. Cassina M, Cagnoli GA, Zuccarello D, Di Gianantonio E, Clementi M Human teratogens and genetic phenocopies. Understanding pathogenesis through human genes mutation Eur J Med Genet 2017; 60: 22-31
4. Davanzo, R., Bua, J., De Cunto, A., Farina, M.L., De Ponti, F., Clavenna, A., Mandrella, S., Sagone, A., Clementi, M. Advising Mothers on the Use of Medications during Breastfeeding : A Need for a Positive Attitude Journal of Human Lactation, 2016;32:15-9.
5. Cassina, M., Ruol, M., Pertile, R., Midrio, P., Piffer, S., Vicenzi, V., Saugo, M., Stocco, C.F., Gamba, P., Clementi, M.Prevalence, characteristics, and survival of children with esophageal atresia: A 32-year population-based study including 1,417,724 consecutive newborns. Birth Defects Research Part A – Clinical and Molecular Teratology, . 2016; 106:542-8
6. Trevisson E, Ludwig K, Casarin A, DiMeglio A, Greggio NA, Manara R, Lenzini E, Clementi M, Salviati L Ichthyosis and Kallmann syndrome: not always a contiguous gene syndrome. J Dermatol Sci. 2015;78:158-60.
7. Giorgi G, Casarin A, Trevisson E, Dona M, Cassina M, Graziano C, Picci L, Clementi M, Salviati L. Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay. Clin. Chem. Lab. Med. 2015;53:1719-23.
8. Winterfeld, U; Klinger, G; Panchaud, A; Stephens, S; Arnon, J; Malm, H; te Winkel, B; Clementi M; Pistelli, A; Manakova, E; Eleftheriou, G; Merlob, P; Kaplan, Y; Buclin, T; Rothuizen, L . Pregnancy outcome following maternal exposure to mirtazapine. Journal of Clinical Psychopharmacology 2015;35:250-9.
9. Weber-Schoendorfer C, Chambers C, Wacker E, Beghin D, Bernard N;Network of French Pharmacovigilance Centers, Shechtman S, Johnson D, Cuppers-Maarschalkerweerd B, Pistelli A, Clementi M, Winterfeld U, Eleftheriou G, Pupco A, Kao K, Malm H, Elefant E, Koren G, Vial T, Ornoy A, Meister R, Schaefer C. Pregnancy outcome after methotrexate treatment for rheumatic disease prior to or during early pregnancy: a prospective multicenter cohort study.Arthritis Rheumatology. 2014; 66:1101-10.
10. Cassina M, Donà M, Di Gianantonio E, Litta P, Clementi M. First-trimester exposure to metformin and risk of birth defects: a systematic review and meta-analysis. Human Reproduction Update. 2014;20:656-69.
11. Cassina M, Dilaghi A, Di Gianantonio E, Cesari E, De Santis M, Mannaioni G, Pistelli A, Maurizio Clementi. Pregnancy outcome in women exposed to antiepileptic drugs: Teratogenic role of maternal epilepsy and its pharmacologic treatment. Reproductive toxicology. 2013;39:50-7.
12. Cassina M, Dona M, Di Gianantonio E, Clementi M. Pharmacologic treatment of hyperthyroidism during pregnancy.Birth Defects Research Part A Clinical and Molecular Teratology. 2012;94:612-9.
13. Winterfeld U, Allignol A, Panchaud A, Rothuizen LE, Merlob P, Cuppers-Maarschalkerweerd B, Vial T, Stephens S, Clementi M, De Santis M, Pistelli A, Berlin M, Elefteriou J, Manakova E, Buclin T Pregnancy outcome following maternal exposure to statins: a multicentre prospective study. BJOG: an international journal of obstetrics and gynaecology 2012;120:463-71.
14. Cassina M, Salviati L, Di Gianantonio E, Clementi M.Genetic susceptibility to teratogens: State of the art.Reproductive Toxicology. 2012;34:186-91.
15. Bar-Oz B, Weber-Schoendorfer C, Berlin M, Clementi M, Di Gianantonio E, de Vries L, De Santis M, Merlob P, Stahl B, Eleftheriou G, Manakova E, Hubičková-Heringová L, Youngster I, Berkovitch M. The outcomes of pregnancy in women exposed to the new macrolides in the first trimester: a prospective, multicentre, observational study.Drug Safety: an international journal of medical toxicology and drug experience. 2012;35:589-98.
16. Novelli A, Grati F R, Ballarati L, Bernardini L, Bizzoco D, Camurri L, Casalone R, Cardarelli L, Cavalli P, Ciccone R, Clementi M, Dalprà L, Gentile M, Gelli G, Grammatico P, Malacarne M, Nardone A M, Pecile V, Simoni G, Zuffardi O, Giardino D.Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. Reply. Ultrasound in Obstetrics & Gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2012;39:600-6.
17. Hoeltzenbein M, Elefant E, Vial T, Finkel-Pekarsky V, Stephens S, Clementi M, Allignol A, Weber-Schoendorfer C, Schaefer C. Teratogenicity of mycophenolate confirmed in a prospective study of the European Network of Teratology Information Services. American Journal of Medical Genetics A. 2012;158A:588-96.
18. Novelli A, Grati FR, Ballarati L, Bernardini L, Bizzoco D, Camurri L, Casalone R, Cardarelli L, Cavalli P, Ciccone R, Clementi M, Dalprà L, Gentile M, Gelli G, Grammatico P, Malacarne M, Nardone AM, Pecile V, Simoni G, Zuffardi O, Giardino D. Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. Ultrasound in Obstetrics & Gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2012;39:384-8.
19. Orioli IM, Amar E, Arteaga-Vazquez J, Bakker MK, Bianca S, Marengo L, Clementi M, Correa A, Botto LD, Leoncini E, Lowry RB, Martínez-Frías ML, Mastroiacovo P, Morgan M, Pierini A, Ritvanen A, Scarano G, Szabova E, Csaky-Szunyogh M, Castilla EE.Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review. American Journal of Medical Genetics C Seminars in medical genetics.. 2011;157C:358-73.
20. Orioli IM, Amar E, Bakker MK, Béres J, Bianchi F, Canfield MA, Clementi M, Correa A, Botto LD, Landau D, Leoncini E, Li Z, López-Camelo GS, Lowry RB, Bermejo-Sánchez E, Mastroiacovo P, Morgan M, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Szabova E, Castilla EE. Cyclopia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research. American Journal of Medical Genetics part C,Seminar in Medical Genetics 2011;157C:344-57.
21. Mutchinick OM, Luna-Muñoz L, Amar E, Bakker MK, Clementi M, Cocchi G, Dutra MG, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry B, Marengo LK, Martínez-Frías ML, Mastroiacovo P, Métneki J, Morgan M, Pierini A, Rissman A, Ritvanen A, Scarano G, Siffel C, Szabova E, Arteaga-Vázquez J. Conjoined Twins: A Worldwide Collaborative Epidemiological Study of the International Clearinghouse for Birth Defects Surveillance and Research. American Journal of Medical Genetics part C Seminars in Medical Genetics. 2011;157C:274-87.
22. Bermejo-Sánchez E, Cuevas L, Amar E, Bianca S, Bianchi F, Botto LD, Canfield MA, Castilla EE, Clementi M, Cocchi G, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías M-L. Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. American of Journal Medical Genetics part C Seminnars in Medical Genetics. 2011;157C:305-20.
23. Bermejo-Sánchez E, Cuevas L, Amar E, Bakker MK, Bianca S, Bianchi F, Canfield MA, Castilla EE, Clementi M, Cocchi G, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías M-L. Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. American of Journal Medical Genetics part C Seminnars in Medical Genetics. 2011;157C:288-304.
24. Botto LD, Feldkamp ML, Amar E, Carey JC, Castilla EE, Clementi M, Cocchi G, de Walle HE, Halliday J, Leoncini E, Li Z, Lowry RB, Marengo LK, Martínez-Frías ML, Merlob P, Morgan M, Muñoz LL, Rissmann A, Ritvanen A, Scarano G, Mastroiacovo P. Acardia: epidemiologic findings and literature review from the International Clearinghouse of Birth Defects Surveillance and Research. American of Journal Medical Genetics part C Seminnars in Medical Genetics. 2011;157C:262-73.
25. Feldkamp ML, Botto LD, Amar E, Bakker MK, Bermejo-Sánchez E, Bianca S, Canfield MA, Castilla EE, Clementi M, Csaky-Szunyogh M, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Merlob P, Morgan M, Mutchinick OM, Rissmann A, Ritvanen A, Siffel C, Carey JC. Cloacal Exstrophy: An Epidemiologic Study from the International Clearinghouse of Birth Defects Surveillance and Research. American of Journal Medical Genetics part C Seminnars in Medical Genetics. 2011;157C:333-43.
26. Siffel C, Correa A, Amar E, Bakker MK, Bermejo-Sánchez E, Bianca S, Castilla EE, Clementi M, Cocchi G, Csaky-Szunyogh M, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Marengo LK, Mastroiacovo P, Morgan M, Mutchinick OM, Pierini A, Rissmann A, Ritvanen A, Scarano G, Szabova E, Olney RS. Bladder Exstrophy: An Epidemiologic Study from the International Clearinghouse for Birth Defects Surveillance and Research, and an Overview of the Literature. American of Journal Medical Genetics part C Seminnars in Medical Genetics. 2011;157C:321-32.
27. Diav-Citrin O, Shechtman S, Halberstadt Y, Finkel-Pekarsky V, Wajnberg R, Arnon J, Di Gianantonio E, Clementi M, Ornoy A. Pregnancy outcome after in utero exposure to angiotensin converting enzyme inhibitors or angiotensin receptor blockers. Reproductive Toxicology 2011;31:540-5.
28. Westermark K, Byskov Holm B, Söderholm M, Llinares-Garcia J, Rivière F, Aarum S, Butlen-Ducuing F, Tsigkos S, Wilk-Kachlicka A, N’Diamoi C, Borvendég J, Lyons D, Sepodes D, Bloechl-Daum B, Lhoir A, Mariana Todorova, Ioannis Kkolos, Kateřina Kubáčková, Heidrun Bosch-Traberg, Vallo Tillmann, Veijo Saano, Emmanuel Héron, Rembert Elbers, Miranda Siouti, Judit Eggenhofer, Patrick Salmon, Maurizio Clementi, Dainis Krievinš, Aušra Matulevičiene, Henri Metz, Albert Cilia Vincenti, Albertha Voordouw, Bożenna Dembowska-Bagińska, Ana Corrêa Nunes, Flavia Mirela Saleh, Tatiana Foltánová, Martin Možina, Josep Torrent i Farnell, Björn Beerman, Segundo Mariz, Marie Pauline Evers, Lesley Greene, Sigurdur Thorsteinsson, Lars Gramstad, Maria Mavris, Fabrizia Bignami, Annie Lorence, Belorgey C.
29. European regulation on orphan medicinal products: 10 years of experience and future perspectives. Nature Reviews Drug Discovery 2011;10:341-9.
30. Wijers CH, de Blaauw I, Marcelis CL, Wijnen RM, Brunner H, Midrio P, Gamba P, Clementi M, Jenetzky E, Zwink N, Reutter H, Bartels E, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Märzheuser S, Schmiedeke E, Crétolle C, Sarnacki S, Levitt MA, Knoers NV, Roeleveld N, van Rooij IA.
31. Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations.Pediatr Surg Int. 2010;26:1093-9
32. Clementi M, Di Gianantonio E, Cassina M, Leoncini E, D. Botto L, Mastroiacovo P, and the SAFE-Med Study Group. Treatment of Hyperthyroidism in Pregnancy and Birth Defects. Journal. Clinical. Endocrinology. Metab. 2010;E337-41
33. Cassina M, Di Gianantonio E, Toldo I, Battistella PA, Clementi M. Migraine therapy during pregnancy and lactation. Expert opinion on drug safety.. 2010;9:937-48.
34. D’Antona D, Ambrosini G, Andrisani A, Raffagnato F, Di Gianantonio E, Clementi M. Pregnancy in immigrants: Are we doing the best we can? European Journal of Obstetrics & Gynecology and Reproductive Biology. 2009;149:122-3.
35. Cassina M, De Santis M, Cesari E, van Eijkeren M, Berkovitch M, Eleftheriou G, Raffagnato F, Di Gianantonio E, Clementi M. First trimester diclofenac exposure and pregnancy out come. Reproductive Toxicology 2010;30:401-4.
36. Losada I, Sartori L, Di Gianantonio E, Clementi M, Doria A Bisphosphonates in patients with autoimmune rheumatic diseases: Can they be used in women of childbearing age? Autoimmunity reviews. v. 2010;9:547-52.
37. Grati FR, Barlocco A, Grimi B, Milani S, Frascoli G, Di Meco AM, Liuti R, Trotta A, Chinetti S, Dulcetti F, Ruggeri AM, De Toffol S, Clementi M, Maggi F, Simoni G. Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes. American Journal of Medical Genetics, 2010;152A:1434-42.