Catalogo dei Corsi di studio

(as of May 2023)
Current Position: Director of IRGB-CNR (September 2020 August 2024), Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche (CNR)
Office Address: IRGB-CNR, c/o Cittadella Universitaria di Monserrato, SS554 Bivio per Sestu km 4,500, 09042 Monserrato (CA), Italy

Education
1983 Laurea in Statistics and Demography (110/110 cum laude) University of Bologna, Italy
1986 M.Sc. in Applied Statistics, Linacre College, University of Oxford, UK

Postgraduate Training and Fellowship Appointment
1984-85 Post-doctoral fellow, Genetics Laboratory, University of Bologna, Bologna, Italy
1985-89 Post-doctoral fellow, Laboratory of Molecular Genetics, Istituto G. Gaslini, Genoa, Italy

Faculty Appointments
1993-04 Assistant Professor of Human Genetics, University of Genoa, Genoa, Italy
1995-97 Assistant Professor of Clinical Public Health in Psychiatry, Dept. of Psychiatry, Columbia University, New York, NY
2000-05 Research Associate Professor of Pediatrics,Thomas Jefferson University, Philadelphia, PA
2005- Associate Professor of Medical Genetics, Università Sapienza, Rome, Italy
2006-12 Associate Professor of Pediatrics at Children s Hospital of Philadelphia (primary), Division of Human Genetics, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2006-12 Associate Professor of Epidemiology, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2012-21 Professor of Pediatrics at Children s Hospital of Philadelphia (primary), Division of Human Genetics, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2012-21 Professor of Epidemiology, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2015-21 Professor of Genetics, Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2021- Professor Emeritus, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA

Hospital and Administrative Appointments
2000-05 Head, Genetic Epidemiology Research Laboratory, Nemours Children s Clinic, Wilmington, DE

Other Appointments
1989-92 Research Scientist, Istituto G.Gaslini, Genoa, Italy
1992-93 Associate Research Scientist, New York State Psychiatric Institute, New York, NY
1993-95 Associate Research Scientist, Dept. of Psychiatry, Columbia University, New York, NY
1997-98 Associate Research Scientist, Laboratory of Statistical Genetics,Rockefeller University, New York, NY
2002-21 Adjunct Member, College of Graduate Studies, Thomas Jefferson University, Philadelphia, PA
2006-21 Research Scientist, Children s Hospital of Philadelphia, Philadelphia, PA
2006-21 Senior Scholar, Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2006 Founding Member, Center for Biomedical Informatics, Children s Hospital of Philadelphia, Philadelphia, PA
2006-21 Member, Graduate Group in Epidemiology and Biostatistics, Biomedical Graduate Studies, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2007-15 Member, Penn Center for Musculoskeletal Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2011-21 Member, Graduate Group in Genomics and Computational Biology, Biomedical Graduate Studies, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2013-18 Co-Director, Center for Genetics and Complex Traits, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2015 Associate Director, Doctoral Program in Epidemiology, Graduate Group in Epidemiology and Biostatistics, University of Pennsylvania, Philadelphia, PA
2016-18 Chair, Doctoral Program in Epidemiology, Graduate Group in Epidemiology and Biostatistics, University of Pennsylvania, Philadelphia, PA

Awards, Honors and Membership in Honorary Societies
1981 Premio di Studio Cavalieri del Lavoro dell'Emilia Romagna
1982 Visiting Student Award, University of Hull, UK
1983 Premio di Laurea A. Raunich, University of Bologna, Italy
1987 Premio FISME, Best Postdoctoral Presentation, Fisme, Siena, Italy
1989 Premio A.I.R.H. 1989, Junior Investigator Award in Human Genetics, Italy
1993 NIH-NIMH Stipend, 1993 World Congress on Psychiatric Genetics, New Orleans, LO
2013 Scientific Merit Award from the Italian General Consulate in Philadelphia

Memberships in Professional and Scientific Societies
1992- European Society of Human Genetics (Member of Director Board, 1994-1999; Member of the Scientific Program Committee, 1998-2002)
1994- American Society of Human Genetics
2000- International Genetic Epidemiology Society
2007- American College of Epidemiology (Fellow)
2012-15 Association for Women in Science
2016-18 International Epidemiological Association

Other Professional Activities
2007 Frontiers in Population Genomics: Research Directions for NHGRI
2017 Edward S. Cooper Society Leadership Development Program, Wharton School, University of Pennsylvania
2017 European Union Horizon 2020 Program, Industry Special Monitoring Group member, WITDOM

Grant reviewer for:
Deutsches Zentrum fur Luft- und Raumfahrt, Germany; NWO, The Netherlands; Boston Area Diabetes Endocrinology Research Center (BADERC), MA; Fondazione CARIPLO, Italy; Science Foundation Ireland; Israel Science Foundation; Research Grant Council, Hong Kong; Medical Research Council, UK; NRSA Postdoctoral Fellowships in Genes, Genetics, & Genomics; NHLBI Program Project Review Committee; NIMH Whole Genome Association Analysis Review Committee; NIH Challenge Grants in Health and Science Research; Biomedical Research Council National Medical Research Council, Singapore; NIH Director's Opportunity for Research in Five Thematic Areas Review Panel; Wellcome Trust, UK; ARSEP (Fondation pour l Aide à la Recherche sur la Sclérose En Plaques), France; NIH Director's Early Independence Awards; NIDDK Special Emphasis Panel; Fund for Scientific Research-FNRS, Belgium; NIH Center for Scientific Review, Infectious disease, Reproductive health, Asthma and Pulmonary conditions (IRAP) Study Section; Foundation for NIH; NIMH Psychiatric Gene Network Review Committee; FWF - Austrian Science Fund, Austria; Crohn s Disease Program, The Leona M. and Harry B. Helmsley Charitable Trust; European Research Council, Starting Grant 2020

Editorial Positions
1994-05 Section Editor, European Journal of Human Genetics
1999-19 Member of Editorial Board, Human Heredity
2004-12 Editor in Chief, Human Heredity
2019- Member of Editorial Board, Advanced Genetics

Journal reviewer for:
American Journal of Human Genetics, American Journal of Medical Genetics, Annals of Human Genetics, Arthritis and Rheumatism, Biological Psychiatry, BMC Genomics, BMC Medical Genetics, BMC Medical Genomics, Bone, Calcified Tissue International, Cancer Discovery, Cancer Research, Clinical Genetics, European Journal of Human Genetics, Genetic Analysis Workshops, Genome Medicine, Genomics, Human Genetics, Human Heredity, Human Molecular Genetics, Human Mutation, International Journal of Neuropsychopharmacology, Journal of Adolescent Health, Journal of Crohn s and Colitis, ME Journal of Medical Genetics, Molecular Medicine, Molecular Vision, Neuroscience Letters, Oncotarget, Osteoporosis International, PLoS Genetics, PLoS ONE, Psychiatry Research, Schizophrenia Research, Therapeutic Advances in Cardiovascular Disease, WIREs Systems Biology and Medicine

Academic and Institutional Committees
2007-09 Committee for Appointment and Promotions, Dept. of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2007-08 Biostatistics and Epidemiology Strategic Planning Committee, Dept. of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2007-21 Research Seminar Committee, Dept. of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2008-20 Chair, Scientific Review Committee, Division of Human Genetics, Dept.of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2010-21 Special Programs in Education Committee, Dept.of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2012-13 Search Committee, Director of Research, University of Pennsylvania School of Dental Medicine, Philadelphia, PA
2012-20 Committee for Appointment and Promotions, Dept.of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2012-20 Diversity Search Advisor, Dept.of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2013-21 Epidemiology Faculty Recruitment Committee, Dept.of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2015-16 Co-Chair, Candidacy Exam Committee, Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2015 Search Committee, Division of Neonatology Chair, Dept.of Pediatrics, The Children s Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2015-21 Search Committee, Genetic Epidemiology, Dept.of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2015-16 Chair, Admissions Committee, Doctoral Program in Epidemiology, Graduate Group in Epidemiology and Biostatistics, University of Pennsylvania, Philadelphia, PA
2015-18 Secretary-Elect/Secretary/Past Secretary, Faculty Senate Executive Committee, University of Pennsylvania, Philadelphia, PA
2015-21 Advisor, Faculty Advising Program, Dept.of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2016 Committee on Committees, Faculty Senate Executive Committee, University of Pennsylvania, Philadelphia, PA
2017 Search Committee, Division of Endocrinology Chair, Dept.of Pediatrics, Children s Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2019-21 Admissions Committee, Doctoral Program in Genomics and Computational Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA

Major Academic and Clinical Teaching Responsibilities
1989-90 Human Genetics, University of Genoa School of Medicine, Genoa, Italy
1990-92 Population Genetics, University of Genoa School of Medicine, Genoa, Italy
1994-97 Human Genetics, University of Genoa School of Medicine, Genoa, Italy
1994-96 Human Genetics for Basic Science, Columbia University College of Physicians and Surgeons, New York, NY
1995-96 Probability and Statistics, Columbia University School of Public Health, New York, NY
2001-20 Human Genetics GE637, Thomas Jefferson University, Philadelphia, PA
2005-20 Biology and Genetics, School of Medicine, University of Roma Sapienza, Rome, Italy
2006-07 Director of Human Genetics Track, Master of Science in Clinical Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2006-20 Introduction to Genetic Epidemiology EPID575, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2007-09 Human Genetics N561, University of Pennsylvania School of Nursing, Philadelphia, PA
2007-10 Topics in Human Genetics and Disease CAMB630, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2010-20 Advanced Topics in Behavioral Genetics NGG578/CAMB578/BIOL488, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2010 Advanced Methods for Analysis of Complex Genetic Traits EP675, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2012 Introduction to Bioinformatics GCB535, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2013-20 Genetic Principles CAMB550, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2013 Genetic Analysis BIOL540/CAMB541, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2015-19 Genetic Foundations of Disease, MD Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2015-19 Advanced Methods for Analysis of Complex Genetic Traits EPID675, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2015-19 Co-Director, Human Genetics Concentration, Master of Science in Clinical Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2016 Reproductive Epidemiology, EPID646, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2016-19 Advanced Topics in Epidemiology, EPID640, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2017 Human Genetics, HG637, Jefferson College of Biomedical Sciences, Thomas Jefferson University, Philadelphia, PA

Organizing Roles in Scientific Meetings
1990 International Workshop The Identification of the CF Gene: Recent Progress and New Research Strategies , Sestri Levante, Italy
1997 XXIX European Human Genetics Conference. Genova, Italy
1998-02 European Human Genetics Conference, Scientific Program Committee
1999-05 Introductory Course in Genetic/Linkage Analysis, Rockefeller University, New York, NY
2001 10th International Congress of Human Genetics, Vienna, Austria, Scientific Program Committee
2005-10 Statistical Genetic Analysis of Complex Phenotypes, European School of Genetic Medicine, Bologna, Italy
2007 15th Annual International Conference on Intelligent Systems for Molecular Biology (ISMB) & 6th European Conference on Computational Biology (ECCB), Vienna, Austria.
2011-19 Sardinian Summer School in Genomics, Polaris Technology Park, Pula (CA), Italy
2013-14 Mid-Atlantic Genetic Epidemiology and Statistics Conference, Philadelphia, PA
2015-19 Symposium on Advances in Genomics, Epidemiology, and Statistics, Philadelphia, PA
2018 European Mathematical Genetics Meeting, Cagliari, Italy

Bibliography
Research Publications, peer reviewed, in the last 10 years (* indicates Dr. Devoto s mentee):
1. Tsai E*, Grochowski C, Loomes K, Bessho K, Hakonarson H, Bezerra J, Russo P, Haber B, Spinner N, Devoto M: Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia. Hum Genet 133:235-243, 2014.
2. Diskin S, Capasso M, Diamond M, Oldridge D, Conkrite K, Bosse K, Russell M, Iolascon A, Hakonarson H, Devoto M, Maris J: Rare variants in TP53 influence neuroblastoma susceptibility. J Natl Cancer Inst 106:dju047, 2014.
3. Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans N, Birk D, Barton E, Koch M, Bönnemann C: Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in human and mice. Hum Mol Genet 23: 2339-52, 2014.
4. Capasso M, Diskin S, Cimmino F, Totaro F, Petrosino G, Pezone L, Diamond M, McDaniel L, Hakonarson H, Iolascon A, Devoto M, Maris J: Common genetic variants in NEFL influence gene expression and neuroblastoma risk. Cancer Res 74:6913-6924, 2014.
5. Barthold J, Wang Y, Olivant-Fisher A, Kolon T, Nordenskjöld A, Figueroa E, BaniHani A, Hagerty J, Gonzalez R, Noh P, Chiavacci R, Harden K, Abrams D, Mateson A, Robbins A, Li J, Akins R, Hakonarson H, Devoto M: Phenotype-specific association of the TGFBR3 locus with nonsyndromic cryptorchidism. J Urol 193:1637-1645, 2015.
6. Grochowski C, Rajagopalan R, Falsey A, Loomes K, Piccoli D, Krantz I, Devoto M, Spinner N: Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome. Am J Med Genet A 167:891-893, 2015.
7. Tsai E*, Grochowski C, Falsey A, Rajagopalan R, Wendel D, Devoto M, Krantz I, Loomes K, Spinner N: Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia. Hum Mutat 36:631-637, 2015.
8. Mlynarski E, Sheridan M, Xie M, Guo T, Racedo S, McDonald McGinn D, Gai X, Bassett A, Chow E, Blonska A, Shanske A, Beemer F, Swillen A, Devriendt K, Breckpot J, Digilio M, Marino B, Dallapiccola B, Philip N, Simon T, Coleman K, Kates W, Devoto M, Zackai E, Ott J, Heine-Suñer D, Shaikh T, Goldmuntz E, Morrow B, Emanuel B and the International Chromosome 22q11.2 Consortium: Copy number variation of glucose transporter gene SLC2A3 and congenital heart defects in the 22q11.2 deletion syndrome. Am J Hum Genet 96:753-764, 2015.
9. Zukosky K, Meilleur K, Traynor BJ, Dastgir J, Medne L, Devoto M, Collins J, Rooney J, Zou Y, Yang ML, Gibbs JR, Meier M, Stetefeld J, Finkel RS, Schessl J, Elman L, Felice K, Ferguson TA, Ceyhan-Birsoy O, Beggs AH, Tennekoon G, Johnson JO, Bönnemann CG: Association of a novel ACTA1 mutation with a dominant progressive scapuloperoneal myopathy in an extended family. JAMA Neurol 72:689-698, 2015.
10. Kelsen J*, Moran C, Sarmady M, Sasson A, Pauly-Hubbard H, Rappaport E, Mamula P, Piccoli D, Artis D, Sonenberg G, Winter H, Baldassano R, Devoto M: Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease. Gastroenterology 149:1415-1424, 2015.
11. Barthold JS, Wang Y, Kolon TF, Kollin C, Nordenskjöld A, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzaléz R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Kim CE, Li J, Hakonarson H, Devoto M: Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions. Hum Reprod 30:2439-2451, 2015.
12. Kelsen J*, Dawany N, Martinez A, Grochowski C, Maurer K, Rappaport E, Piccoli D, Baldassano R, Mamula P, Sullivan K, Devoto M: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease. BMC Gastroenterology 15:160, 2015.
13. Barthold J, Pugarelli J, MacDonald M, Ren J, Adetunji M, Polson S, Mateson A, Wang Y, Sol-Church K, McCahan S, Akins R, Devoto M, Robbins A: Polygenic inheritance of cryptorchidism susceptibility in the LE/orl rat. Mol Hum Reprod 22:18-34, 2016.
14. Rajagopalan R, Grochowski C, Gilbert M, Falsey A, Coleman K, Romero R, Loomes K, Piccoli D, Devoto M, Spinner N: Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. Am J Med Genet A 170:750-753, 2016.
15. Mlynarski E, Xie M, Taylor D, Sheridan M, Guo T, Racedo S, McDonald McGinn D, Marshall C, Chow E, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio M, Marino B, Dallapiccola B, Philip N, Simon T, Roberts A, Piotrowicz M, Bearden C, Eliez S, Gothelf D, Coleman K, Kates W, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett A, Morrow B, Emanuel B and the International Chromosome 22q11.2 Consortium: Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Hum Genet 135:273-285, 2016.
16. Matera I, Rusmini M, Guo Y, Lerone M, Di Duca M, Murgia D, Mosconi M, Pini Prato A, Martucciello G, Barabino A, Nozza P, Morandi F, Ravazzolo R, Devoto M, Hakonarson H, Li J, Ceccherini I: Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. Eur J Hum Genet 24:1211-1215, 2016.
17. Franconi CP, McDonald-McGinn D, Zackai EH, McNamara MA, Salmons IV H, Moss E, Gur RE, Devoto M, Emanuel BS: IQ and hemizygosity for the p.Val158Met functional polymorphism of COMT in 22q11DS. Am J Med Genet B Neuropsychiatr Genet 171:1112-1115, 2016.
18. Wang Y, Li J, Kolon T, Fisher A, Figueroa T, BaniHani A, Hagerty J, Gonzalez R, Noh P, Chiavacci R, Harden K, Abrams D, Robbins A, Stabley D, Kim C, Sol-Church K, Hakonarson H, Devoto M, Barthold J: Genomic copy number variation association study in Caucasian patients with nonsydromic cryptorchidism. BMC Urol 16:62, 2016.
19. Tsai E*, Gilbert M, Grochowski C, Underkoffler L, Meng H, Zhang H, Wang M, Shitaye H, Hankenson K, Piccoli D, Lin H, Kamath B, Devoto M, Spinner N, Loomes K: THBS2 is a candidate modifier of liver disease severity in Alagille syndrome. Cell Mol Gastroenterol Hepatol 2:663-675, 2016.
20. McDaniel L, Conkrite K, Chang X, Capasso M, Vaksman Z, Oldridge D, Zachariou A, Horn M, Diamond M, Hou C, Iolascon A, Hakonarson H, Rahman N, Devoto M, Diskin S: Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma. PLoS Genet 13:e1006787, 2017.
21. Conrad M*, Dawany N, Sullivan K, Devoto M, Kelsen J*: Novel ZBTB24 mutation associated with immunodeficiency, centromere instability, and facial anomalies type 2 syndrome identified in a patient with very early onset inflammatory bowel disease. Inflamm Bowel Dis 23:2252-2255, 2017.
22. Wang Y, Gray D, Robbins A, Crowgey E, Nathanson K, McGlynn K, Turnbull C, Wang Z, Chanock S, Devoto M, Barthold J, for the Testicular Cancer Consortium: Subphenotype meta-analysis of testicular cancer genome-wide association study (GWAS) data suggests a role for RBFOX family genes in cryptorchidism susceptibility. Hum Reprod 33(5):967-977, 2018.
23. Chen Y*, Gilbert M, Grochowski C, Waisbourd-Zinman O, Hakonarson H, Bailey-Wilson J, Russo P, Wells R, Loomes K, Spinner N, Devoto M: A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1. PLOS Genet 14:e1007532, 2018.
24. Cimmino F, Avitabile M, Diskin S, Vaksman Z, Pignataro P, Formicola D, Cardinale A, Testori A, Koster J, de Torres C, Devoto M, Maris J, Iolascon A, Capasso M: Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor. Int J Cancer 143:2828-2837, 2018.
25. Testori A*, Lasorsa V, Cimmino F, Cantalupo S, Cardinale A, Avitabile M, Limongelli G, Russo M, Diskin S, Maris J, Keavney B, Devoto M, Cordell H, Keavney B, Iolascon A, Capasso M: Exploring shared susceptibility between two neural crest cells originating conditions: neuroblastoma and congenital heart diseases. Genes 10:E663, 2019.
26. Previtali S, Zhao E*, Lazarevic D, Pipitone G, Fabrizi G, Manganelli F, Mazzeo A, Pareyson D, Schenone A, Taroni F, Vita G, Bellone E, Ferrarini M, Garibaldi M, Magri S, Padua L, Pennisi E, Pisciotta C, Riva N, Scaioli V, Scarlato M, Tozza S, Geroldi A, Jordanova A, Ferrari M, Molineris I, Reilly M, Comi G, Carrera P, Devoto M, Bolino A: Expanding the spectrum of genes responsible for hereditary motor neuropathies. J Neurol Neurosurg Psychiatry 90:1172-1179, 2019.
27. Hess R*, Devoto M, Grant S, Henthorn P, Wang F, Feng R: An exploratory association analysis of the insulin gene region with diabetes mellitus in two dog breeds. J Hered 110:793-800, 2019.
28. Li Y, Glessner J, Coe B, Li J, Mohebnasab M, Chang X, Connoly J, Kao C, Wei Z, Bradfield J, Kim C, Hou C, Khan M, Mentch F, Qiu H, Bakay M, Cardinale C, Lemma M, Abrams D, Bridglall-Jhingoor A, Behr M, Harrison S, Otieno G, Thomas A, Wang F, Chiavacci R, Wu L, Hadley D, Goldmuntz E, Elia J, Maris J, Grundmeier R, Devoto M, Keating B, March M, da Silva R, Grant S, Sleiman P, Li M, Eichler E, Hakonarson H: Rare copy number Variants in over 100,000 European ancestry subjects reveal multiple disease associations. Nat Commun 11:255, 2020.
29. Rajagopalan R, Tsai E*, Grochowski C, Loomes K, Spinner N, Devoto M: Exome sequencing in individuals with isolated biliary atresia. Sci Rep 10:2709, 2020.
30. Avitabile M, Succoio M, Cardinale A, Vaksman Z, Lasorsa A, Cantalupo S, Esposito M, Cimmino F, Montella A, Formicola D, Koster J, Andreotti V, Ghiorzo P, Romano M, Staibano S, Scalvenzi M, Ayala F, Testori A*, Devoto M, Law M, Iles M, Brown K, Zambrano N, Diskin S, Iolascon A, Capasso M: Neural crest derived tumors neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC161A gene. Carcinogenesis 41:284-295, 2020.
31. Kelsen J*, Conrad M*, Dawany N, Patel T, Shrain R, Mertz A, Maurer K, Sullivan K, Devoto M: The unique disease course of children with very early onset inflammatory bowel disease. Inflamm Bowel Dis (6):909-918, 2020.
32. Zhao X, Lorent K, Escobar-Zarate D, Rajagopalan R, Loomes K, Gillespie K, Mesaros C, Estrada M, Blair I, Winkler J, Spinner N, Devoto M, Pack M: Impaired redox and protein homeostasis as risk factors and therapeutic targets in toxin-induced biliary atresia. Gastroenterology 159:1068-1084, 2020.
33. Orrù V, Steri M, Sidore C, Marongiu M, Serra V, Olla S, Sole G, Lai S, Dei M, Mulas A, Virdis A, Piras M, Lobina M, Marongiu M, Onano S, Zoledziewska M, Sawcer S, Devoto M, Gorospe M, Abecasis G, Floris M, Pala M, Schlessinger D, Fiorillo E, Cucca F: Complex genetic signatures in immune cells underlie autoimmunity and inform therapy. Nat Genet 52:1036-1045, 2020.
34. Kelsen J*, Dawany N, Conrad M*, Dent M, Maurer K, Behera R, Bryant L, Moreira L, Chatterji P, Shraim R, Mertz A, Mizuno R, Simon L, Muir A, Terry N, Ghanem L, Giraudo C, Behrens E, WhelanK, Devoto M, Russo P, Sullivan K, Hamilton K: Colonoids from patients with pediatric inflammatory bowel disease exhibit decreased growth associated with inflammation severity and durable upregulation of antigen presentation genes. Inflamm Bowel Dis 27:256-267, 2021.
35. Patel T, Henrickson S, Moser E, Field N, Maurer K, Dawany N, Conrad M*, Bunin N, Freedman J, Heimall J, Arnold D, Wang J, Markowitz J, Payne-Poff S, Williams K, Russo P, Wherry J, Devoto M, Oliver P, Sullivan K, Kelsen J*: Immune dysregulation in human ITCH deficiency successfully treated with hematopoietic cell transplantation. J Allergy Clin Immunol Pract 9:2885-2893, 2021.
36. Ouahed J, Kelsen J*, Spessott W, Kooshesh K, Sanmillan M, Dawany N, Sullivan K, Hamilton K, Slowik V, Nejentsev S, Farela Neves J, Flores H, Chung W, Wilson A, Anyane Yeboa K, Wou K, Jain P, Field M, Tollefson S, Dent M, Li D, Naito T, McGovern D, Kwong A, Taliaferro A, Ordovas-Montanes J, Horwitz B, Kotlarz D, Klein C, Evans J, Dorsey J, Warner N, Elkadri A, Muise A, Goldsmith J, Thompson B, Engelhardt K, Cant A, Hambleton S, Barclay A, Toth-Petroczy A, Vuzman D, Carmichael N, Bodea C, Cassa C, Devoto M, Maas R, Behrens E, Giraudo C, Snapper S: Variants in STXBP3 are associated with very early onset inflammatory bowel disease, bilateral sensorineural hearing loss and immune dysregulation. J Crohns Colitis 15:1908-1919, 2021.
37. Pitzalis M, Idda ML, Lodde V, Loizedda A, Lobina M, Zoledziewska M, Virdis F, Delogu G, Pirinu F, Marini MG, Mingoia M, Frau J, Lorefice L, Fronza M, Carmagnini D, Carta E, Orrù V, Uzzau S, Solla P, Loi F, Devoto M, Steri M, Fiorillo E, Floris M, Zarbo IR, Cocco E, Cucca F: Effect of different disease-modifying therapies on humoral response to BNT162b2 vaccine in sardinian multiple sclerosis patients. Front Immunol 12:781843, 2021.
38. Murrell JR, Nesbitt AMI, Baker SW, Pechter KB, Balciuniene J, Zhao X, Denenberg EH, DeChene ET, Wu C, Jayaraman P, Cao K, Gonzalez M, Devoto M, Testori A*, Monos JD, Dulik MC, Conlin LK, Luo M, McDonald Gibson K, Guan Q, Sarmady M, Bhoj E, Helbig I, Zackai EH, Bedoukian EC, Wilkens A, Tarpinian J, Izumi K, Skraban CM, Deardorff MA, Medne L, Krantz ID, Krock BL, Santani AB: Molecular diagnostic outcomes from 700 cases: What can we learn from a retrospective analysis of clinical exome sequencing? J Mol Diagn 24:274-286, 2022.
39. Testori A*, Vaksman Z, Diskin S, Hakonarson H, Capasso M, Iolascon A, Maris J, Devoto M: Genetic analysis in African American children supports ancestry specific neuroblastoma susceptibility. Cancer Epidemiol Biomarkers Prev 31:870-875, 2022.
40. Sazonovs A, Stevens C, Venkataraman G, Yuan K, Avila B, Abreu M, Ahmad T, Allez M, Ananthakrishnan A, Atzmon G, Baras A, Barrett J, Barzilai N, Beaugerie L, Beecham A, Bernstein C, Bitton A, Bokemeyer B, Chan A, Chung D, Cleynen I, Cosnes J, Cutler D, Daly A, Damas O, Datta L, Dawany N, Devoto M, et al: Large scale sequencing identifies multiple genes and rare variants associated with Crohn s disease susceptibility. Nat Genet 54:1275-1283, 2022.
41. Kelsen J*, Dawany N, Conrad M*, Patel T, Devoto M, Maurer K, Sullivan K: Clinical and laboratory predictors of monogenic very early onset inflammatory bowel disease. Clinical Immunology 240:109047, 2022.
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