Marcella Devoto

Director

H-index: 53 (Scopus, October 2020)

Education:

1983 Laurea in Statistics and Demography (110/110 cum laude) – University of Bologna, Italy
1985-1989 M.Sc. in Applied Statistics, – Linacre College, University of Oxford, UK

Postgraduate Training and Fellowship Appointment:

1984-1985 Post-graduate fellow, Genetics Laboratory, Clinical Neurology, University of Bologna, Italy
1985-1989 Post-graduate fellow, Laboratory of Molecular Genetics, Istituto G. Gaslini, Genoa, Italy

Faculty Appointments:

1993-1994 Assistant Professor of Human Genetics, University of Genoa, School of Medicine, Genoa, Italy
1995-1997 Assistant Professor of Clinical Public Health in Psychiatry, Department of Psychiatry, Columbia University, New York, NY
2000-2005 Head, Genetic Epidemiology Research Laboratory, Nemours Children’s Clinic – Wilmington, Wilmington, DE
2000-2005 Research Associate Professor of Pediatrics, Thomas Jefferson University, Philadelphia, PA
2005 Associate Professor of Medical Genetics, Università Sapienza, Rome, Italy
2006-2012 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
2006-2012 Associate Professor of Epidemiology (secondary), Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2012-2021 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
2012-2021 Professor of Epidemiology (secondary), Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2015-2021 Professor of Genetics (secondary), Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA

Other Appointments:

1989-1992 Research Scientist, Istituto G.Gaslini, Genoa, Italy
1992-1993 Associate Research Scientist, New York State Psychiatric Institute, New York, NY
1993-1995 Associate Research Scientist, Department of Psychiatry, Columbia University, New York, NY
1997-1998 Associate Research Scientist, Laboratory of Statistical Genetics,Rockefeller University, New York, NY
2002-2006 Adjunct Member, College of Graduate Studies, Thomas Jefferson University, Philadelphia, PA
2006-2021 Research Scientist, Children’s Hospital of Philadelphia Research Institute, Philadelphia, PA
2006-2021 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
2006-2021 Member, Graduate Group in Epidemiology and Biostatistics, Biomedical Graduate Studies, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2007-2015 Member, Penn Center for Musculoskeletal Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2011-2021 Member, Graduate Group in Genomics and Computational Biology, Biomedical Graduate Studies, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2013-2018 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, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2016-2018 Chair, Doctoral Program in Epidemiology, Graduate Group in Epidemiology and Biostatistics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA

Specialty Certification:

2007 → American College of Epidemiology (Fellow)

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
2016-2019 International Epidemiological Association
2012-2015 Association for Women in Science

Other Professional Activities:

2007 Frontiers in Population Genomics: Research Directions for NHGRI,
presenter and discussion panelist
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:
2000 Deutsches Zentrum fur Luft- und Raumfahrt, Germany
2001 NWO, The Netherlands
2001-2003 Boston Area Diabetes Endocrinology Research Center (BADERC), MA
2002 Fondazione CARIPLO, Italy
2004 Science Foundation Ireland
2004 Israel Science Foundation
2005, 2016, 2017 Research Grant Council, Hong Kong
2005, 2015, 2017 Medical Research Council, UK
2005-2007 NRSA Postdoctoral Fellowships in Genes, Genetics, & Genomics
2006-2013 NHLBI Program Project Review Committee
2007 NIMH Whole Genome Association Analysis Review Committee
2009 NIH Challenge Grants in Health and Science Research
2009 Biomedical Research Council – National Medical Research Council, Singapore
2010 NIH Director’s Opportunity for Research in Five Thematic Areas Review Panel
2011 Wellcome Trust, UK
2011 ARSEP (Fondation pour l’Aide à la Recherche sur la Sclérose En Plaques), France
2011 NIH Director’s Early Independence Awards
2011, 2014 NIDDK Special Emphasis Panel
2014 Fund for Scientific Research-FNRS, Belgium
2014 NIH Center for Scientific Review, Infectious disease, Reproductive health, Asthma and Pulmonary conditions (IRAP) Study Section, ad-hoc member
2014 Foundation for NIH
2015 NIMH Psychiatric Gene Network Review Committee
2016 FWF – Austrian Science Fund, Austria
2016- NIH Center for Scientific Review, IRAP Study Section, permanent member
2018 Crohn’s Disease Program, The Leona M. and Harry B. Helmsley Charitable Trust
2020 European Research Council, Starting Grants 2020

Editorial Positions:

1994-2005 Section Editor, European Journal of Human Genetics
1999-2019 Member of Editorial Board, Human Heredity
2004-2012 Editor in Chief, Human Heredity
2019 → Member of Editorial Board, Genetics and Genomics Next
Journal reviewer for (with the year of the first review):
2000 American Journal of Human Genetics
2001 Cancer Research, Human Genetics, European Journal of Human Genetics
2002 Arthritis and Rheumatism, Molecular Medicine
2003 Human Heredity, Human Mutation
2005 Biological Psychiatry, BMC Medical Genetics
2006 Annals of Human Genetics, Genomics, Molecular Vision, Bone
2007 Osteoporosis International, Clinical Genetics, Psychiatry Research, American Journal of Medical Genetics, Genetic Analysis Workshops
2008 Calcified Tissue International, PLoS Genetics
2009 Human Molecular Genetics, Neuroscience Letters
2010 Schizophrenia Research, Journal of Adolescent Health, BMC Genomics
2011 International Journal of Neuropsychopharmacology
2013 Therapeutic Advances in Cardiovascular Disease
2014 PLoS ONE
2015 Journal of Crohn’s and Colitis, Cancer Discovery, WIREs Systems Biology and Medicine, Oncotarget, ME Journal of Medical Genetics
2016 Genome Medicine
2017 Oncotarget
2018 BMC Medical Genomics

Academic and Institutional Committees:

2007-2009 Committee for Appointment and Promotions, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2007-2008 Biostatistics and Epidemiology Strategic Planning Committee, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2007-2021 Research Seminar Committee, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2008-2021 Chair, Scientific Review Committee, Division of Human Genetics, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2010-2021 Special Programs in Education Committee, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2012-2013 Search Committee, Director of Research, University of Pennsylvania School of Dental Medicine, Philadelphia, PA
2012-2020 Committee for Appointment and Promotions, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2012-2021 Diversity Search Advisor, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2013-2021 Epidemiology Faculty Recruitment Committee, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2015-2016 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, Department of Pediatrics, The Children’s Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2015-2021 Search Committee, Genetic Epidemiology, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2015-2016 Chair, Admissions Committee, Doctoral Program in Epidemiology, Graduate Group in Epidemiology and Biostatistics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2015-2018 Secretary-Elect/Secretary/Past Secretary, Faculty Senate Executive Committee, University of Pennsylvania, Philadelphia, PA
2015-2020 Advisor, Faculty Advising Program, Department 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, Department of Pediatrics, The Children’s Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2019-2021 Admissions Committee, Doctoral Program in Genomics and Computational Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA

Major Academic and Clinical Teaching Responsibilities:

1989-1990 Human Genetics, University of Genoa School of Medicine, Genoa, Italy
1990-1992 Population Genetics, Course Director – University of Genoa School of Medicine, Genoa, Italy
1994-1997 Human Genetics, University of Genoa School of Medicine, Genoa, Italy
1994-1996 Human Genetics for Basic Science, Columbia University College of Physicians and Surgeons, New York, NY
1995-1996 Probability and Statistics, Course Director Columbia University School of Public Health, New York, NY
2001-2020 Human Genetics GE637, Thomas Jefferson University, Philadelphia, PA
2006 → Genetics, Sapienza University International Medical School, Rome, Italy
2006-2007 Director of Human Genetics Track, MSCE Program, CCEB, Perelman School of Medicine, University of Pennsylvania
2006-2020 Introduction to Genetic Epidemiology EPID575, Course Co-Director, Perelman School of Medicine, University of Pennsylvania
2007-2009 Human Genetics N561, University of Pennsylvania School of Nursing
2007-2012 Topics in Human Genetics and Disease CAMB630, Course Co-Director, Perelman School of Medicine, University of Pennsylvania
2010-2018 Advanced Topics in Behavioral Genetics NGG578/CAMB578/BIOL488, Perelman School of Medicine, University of Pennsylvania
2010 Advanced Methods for Analysis of Complex Genetic Traits EP675, Course Co-Director, Perelman School of Medicine, University of Pennsylvania
2012 Introduction to Bioinformatics GCB535, Perelman School of Medicine, University of Pennsylvania
2013-2020 Genetic Principles CAMB550, Perelman School of Medicine, University of Pennsylvania
2013 Genetic Analysis BIOL540/CAMB541, Perelman School of Medicine, University of Pennsylvania
2015-2020 Genetic Foundations of Disease, MD Program, Perelman School of Medicine, University of Pennsylvania
2015-2018 Advanced Methods for Analysis of Complex Genetic Traits EPID675, Course Co-Director, Perelman School of Medicine, University of Pennsylvania
2015-2018 Co-Director, Human Genetics Concentration, Master of Science in Clinical Epidemiology, CCEB, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
2016 Reproductive Epidemiology, EPID646, Perelman School of Medicine, University of Pennsylvania
2016-2020 Advanced Topics in Epidemiology, EPID640, Perelman School of Medicine, University of Pennsylvania
2017 Human Genetics, HG637, Jefferson College of Biomedical Sciences, Thomas Jefferson University
Students and mentees:
1990-1992 Alessandra Bolino, undergraduate student, University of Genoa, Italy
1993-1996 Alessandra Bolino, PhD student, University of Genoa, Italy
1994-1998 Valeria Brancolini, post-doctoral fellow, Columbia University
1997 Paola Forabosco, post-doctoral fellow, Rockefeller University
1999-2003 Claudia Specchia, PhD student, University of Genoa, Italy
2003-2007 Francesca Lantieri, PhD student, University of Genoa, Italy
2004 Patrizia Zavattari, post-doctoral fellow, Nemours Children’s Clinic
2004 Maria Rosa Valvano, post-doctoral fellow, Nemours Children’s Clinic
2006-2010 Kathryn Blake, PharmD, Nemours Children’s Clinic (K23 co-sponsor)
2006 Pedro Sanchez, Master of Science in Clinical Epidemiology student, University of Pennsylvania
2006-2008 Haitao Zhang, post-doctoral fellow, Children’s Hospital of Philadelphia
2007-2008 Mario Capasso, post-doctoral fellow, Children’s Hospital of Philadelphia
2007-2009 Paula Goldenberg, Master of Science in Clinical Epidemiology student, University of Pennsylvania
2007 Luca Longo, MSc student, University of Genoa, Italy
2008 Zafar Zaheer, PhD student, Statistics, University of Peshawar, Pakistan
2008-2009, 2011-2012 Francesca Lantieri, post-doctoral fellow, Children’s Hospital of Philadelphia
2008-2009 Fabrice Danjou, PhD student, Genetics, University of Cagliari, Italy
2008-2009 Marco Simonini, Nephrology fellow, University San Raffaele, Milan, Italy
2008-2009 Stephanie Ciosek, MPH student, University of Pennsylvania
2009-2010 Silvia Francisci, post-doctoral fellow, Children’s Hospital of Philadelphia
2009-2011 Valeria Latorre, PhD student, University of Calabria, Italy
2010-2013 Ellen Tsai, PhD student, Genomics and Computational Biology, University of Pennsylvania
2010-2015 Stephanie Ciosek, PhD student, Epidemiology, University of Pennsylvania
2013-2017 Ying Chen, PhD student, Genomics and Computational Biology, University of Pennsylvania
2013 → Judith Kelsen, MD, Children’s Hospital of Philadelphia (K23 mentor)
2015 Rajashree Mishra, PhD student, Genomics and Computational Biology, University of Pennsylvania (rotation mentor)
2015-2017 Edward Zhao, undergraduate student, Vagelos Scholars Program in the Molecular Life Sciences, University of Pennsylvania
2015-2017 Rebecka Hess, DVM, Master of Science in Clinical Epidemiology student, University of Pennsylvania
2015 Sabine Schneider, MD/PhD student, Genetics, University of Pennsylvania (rotation mentor)
2016-2019 Maire Conrad, MD, Master in Translational Research student, University of Pennsylvania
2016 Sanjana Sundaresan, undergraduate student, SASTRA University, India (research project mentor)
2016-2017 Lauren Hochman, undergraduate student, School of Arts and Science, University of Pennsylvania
2017 Ramyiadarsini Elangovan, MD student, University of Oxford, Oxford, UK (research project mentor)
2018 Shobana Sankar, undergraduate student, SASTRA University, India (research project mentor)
2018 Sowndharya Subramanian, undergraduate student, SASTRA University, India (research project mentor)
2018 Alexa Woodward, PhD student, Epidemiology, University of Pennsylvania (rotation mentor)
2018-2019 Alessandro Testori, MD, PhD, post-doctoral fellow, The Children’s Hospital of Philadelphia
2018 Tara Klingner, PhD student, Epidemiology, University of Pennsylvania (rotation mentor)
2018 Vaishnave Subbramanian, undergraduate student, SASTRA University, India (research project mentor)
2019 → Alejandro Q. Nato, Jr., PhD, Assistant Professor, Marshall University, WV-CTSI OPEN Grant mentor
2019-2020 Tancredi Pentimalli, MD student, University of Rome Sapienza (dissertation advisor)
Participation in PhD dissertation and other academic oversight committees:
1995 Fatimah Haghighi, PhD student, Genetics, Columbia University (PhD Committee member)
2006 Mark Levenstien, PhD student, Statistical Genetics, Rockefeller University (Faculty Advisory Committee member, External Examiner)
2013-2014 Yun (Rose) Li, MD/PhD student, Genomics and Computational Biology, University of Pennsylvania (PhD Committee member)
2014 Joseph Glessner, PhD student, Genomics and Computational Biology, University of Pennsylvania (PhD Committee member)
2015-2017 Maire Conrad, MD, GI fellow, Children’s Hospital of Philadelphia (Scholarship Oversight Committee member)
2015-2017 Michelle Kaplinski, MD, Cardiology fellow, Children’s Hospital of Philadelphia (Scholarship Oversight Committee member)
2016 → Ramakrishnan Rajagopalan, PhD student, Drexel University, Philadelphia (PhD Committee member)
2016-2019 Katie Siewert, PhD student, Genomics and Computational Biology, University of Pennsylvania (PhD Committee chair)
2016-2018 Elizabeth Bhoj, MD PhD, post-doctoral fellow, The Children’s Hospital of Philadelphia (Scientific Advisory Committee member)
2016-2019 Rajashree Mishra, PhD student, Genomics and Computational Biology, University of Pennsylvania (PhD Committee chair)
2017 Laura Bryant, PhD student, Neuroscience, University of Pennsylvania (PhD Committee member)
2018-2023 Elizabeth Bhoj, MD PhD, Children’s Hospital of Philadelphia (K08 Scientific Advisory Committee member)
2019-2020 Laura Egolf, PhD student, Cell and Molecular Biology, University of Pennsylvania (PhD Committee member)
2019-2020 Dan Ju, PhD student, Cell and Molecular Biology, University of Pennsylvania (PhD Committee member)
2019-2020 Jing Zhang, PhD student, Epidemiology, University of Pennsylvania (PhD Committee chair)

Organizing Roles in Scientific Meetings:

1990 International Workshop “The Identification of the CF Gene: Recent Progress and New Research Strategies”. Sestri Levante, Italy. Member of Scientific Committee
1997 XXIX European Human Genetics Conference. Genova, Italy. Member of Local Organizing Committee
1998-202 European Human Genetics Conference. Member of Scientific Program Committee
1999-2005 Introductory Course in Genetic/Linkage Analysis, Rockefeller University, New York, NY. Course Director
2001 10th International Congress of Human Genetics. Vienna, Austria. Member of Scientific Program Committee
2005-2010 Statistical Genetic Analysis of Complex Phenotypes European School of Genetic Medicine, Bologna, Italy. Course Director
2007 15th Annual International Conference on Intelligent Systems for Molecular Biology (ISMB) & 6th European Conference on Computational Biology (ECCB), Vienna, Austria. Member of Program Committee for Track Bioinformatics of Disease
2011 → International Sardinian Summer School in Genomics, Polaris Technology Park, Pula (CA), Italy. Course Director
2013-14 Mid-Atlantic Genetic Epidemiology and Statistics Conference, Philadelphia, PA. Chair of Organizing Committee
2015 → Symposium on Advances in Genomics, Epidemiology, and Statistics, Philadelphia, PA. Chair of Organizing Committee
2018 European Mathematical Genetics Meeting, Cagliari, Italy. Member of Scientific Organizing Committee

Bibliography:

Research Publications, peer reviewed (* indicates Dr. Devoto’s mentee):

  1. Romeo G, Bianco M, Devoto M, Menozzi P, Mastella G, Giunta AM, Micalizzi C, Antonelli M, Battistini A, Santamaria F, Castello D, Marianelli A, Marchi AG, Manca A, Miano A: Incidence in Italy, genetic heterogeneity and segregation analysis of cystic fibrosis. Am J Hum Genet 37:338-349, 1985.
  2. Devoto M, Prosperi L, Dagna Bricarelli F, Coviello DA, Croci G, Zelante L, Ferranti G, Tanconi R, Stomeo C, Romeo G: Frequency of consanguineous marriages among parents and grandparents of Down patients. Hum Genet 70:256-258, 1985.
  3. Branzi A, Romeo G, Specchia S, Lolli C, Binetti G, Devoto M, Bacchi M, Magnani B: Genetic heterogeneity of hypertrophic cardiomiopathy. Int J Cardiol 7:129-133, 1985.
  4. Brignola C, Lanfranchi GA, Campieri M, Bazzocchi G, Devoto M, Boni P, Farruggia P, Veggetti S, Tragnone A: Importance of laboratory parameters in the evaluation of Crohn’s disease activity. J Clin Gastroenterol 8:245-248, 1986.
  5. Devoto M, Lozito A, Staffa G, D’Alessandro R, Saquegna T, Romeo G: Segregation analysis of migraine in 128 families. Cephalalgia 6:101-105, 1986.
  6. Romeo G, Devoto M, Bianco M: Homogeneity vs. heterogeneity of cystic fibrosis in Italy. Am J Hum Genet 39:283-284, 1986.
  7. Vitale E, Devoto M, Mastella G, Romeo G: Homogeneity of cystic fibrosis in Italy. Am J Hum Genet 39:832-836, 1986. PMCID: PMC1684116
  8. Tonini GP, Verdona G, Devoto M, Sansone R, Cornaglia‑Ferraris P: N‑myc oncogene amplification and catecholamine metabolism in patients with neuroblastoma. Lancet ii:795, 1987.
  9. Romeo G, Devoto M, Archidiacono N, Ferlini A, Roncuzzi L, Melis MA, Paderi E, Ferrari M, Tedeschi S, Galluzzi G, Felicetti L: Italian experience regarding the prevention of Duchenne and Becker muscular dystrophies. Eur J Pediatr 147:412-415, 1988.
  10. Schwartz M, Super M, Schmidtke J, Buys C, Farrall M, Halley D, Krawczak M, Poncin JE, Loukopoulos D, Devoto M: Prenatal diagnosis of cystic fibrosis using linked DNA probes. Prenat Diagn 8:619-624, 1988.
  11. Estivill X, Farrall M, Williamson R, Ferrari M, Seia M, Giunta AM, Novelli G, Potenza L, Dallapiccola B, Borgo G, Gasparini P, Pignatti PF, De Benedetti L, Vitale E, Devoto M, Romeo G: Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study. Am J Hum Genet 43:23-28, 1988.
  12. Farrall M, Wainwright BJ, Feldman GL, Beaudet A, Sretenovic D, Halley D, Simon M, Dickerman L, Devoto M, Romeo G, Kaplan J‑C, Kitzis A, Williamson R: Recombinations between IRP and cystic fibrosis. Am J Hum Genet 43:471-475, 1988.
  13. Romeo G, Devoto M, Costa G, Roncuzzi L, Catizone L, Zucchelli P, Germino GG, Keith T, Weatherall DJ, Reeders ST: A second genetic locus for autosomal dominant polycystic kidney disease. Lancet 2:8-11, 1988.
  14. Barabino A, Haupt R, Rosati U, Scarsi P, Boni L, Devoto M, Poggi O, Durand P: La ricerca pediatrica in Italia: indagine sulla produzione nel triennio 1983‑1985. Riv Ital Ped (IJP) 14:408-411, 1988.
  15. Kitzis A, et al. (among others Devoto M): Unusual segregation of cystic fibrosis alleles. Nature 336:316, 1988.
  16. Figus A, Lampis R, Devoto M, Ristaldi MS, Ideo A, De Virgilis S, Nurchi AM, Corrias A, Corda R, Lai ME, Tocco A, Deplano A, Solinas A, Zancan L, Lee W‑H, Cao A, Pirastu M, Balestrieri A: Carrier detection and early diagnosis of Wilson’s disease by restriction fragment lenght polymorphism analysis. J Med Genet 26:78-82, 1989. PMCID: PMC1015554
  17. Devoto M, De Benedetti L, Seia M, Piceni Sereni L, Ferrari M, Bonduelle ML, Malfroot A, Lissens W, Balassopoulou A, Adam G, Loukopoulos D, Cochaux P, Vassart G, Szibor R, Hein J, Grade K, Berger W, Wainwright B, Romeo G: Haplotypes in cystic fibrosis patients with or without pancreatic insufficiency from four European populations. Genomics 5:894-898, 1989.
  18. Ferrari M, Antonelli M, Bellini F, Borgo G, Castiglione O, Curcio L, Dallapiccola B, Devoto M, Estivill X, Gasparini P, Giunta A, Marianelli L, Mastella G, Novelli G, Pignatti P, Romano C, Romeo G, Seia M, Williamson R: Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency. An Italian collaborative study. Hum Genet 84:435-438, 1990.
  19. Devoto M, Ronchetto P, Romano L, Romeo G: Analysis of deltaF508 does not confirm a previously reported recombination in a cystic fibrosis family. Am J Hum Genet 46:1004-1005, 1990. PMCID: PMC1683601
  20. Gasparini P, Cappello N, Dallapiccola B, Devoto M, Estivill X, Ferrari M, Leoni G, Novelli G, Piazza A, Pignatti PF, Romeo G, Rosatelli C, Savoia A, Seia M, Williamson R: Regional distribution of cystic fibrosis linked DNA haplotypes in Italy: a collaborative study. Gene Geogr 4:53-64, 1990.
  21. Dean M, Amos JA, Lynch J, Romeo G, Devoto M, Ward K, Halley D, Oostra B, Ferrari M, Russo S, Weir BS, Finn PB, Collins FS, Iannuzzi MC: Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8. Hum Genet 85: 275- 278, 1990.
  22. Balassopoulou A, Loukopoulos D, Kollia P, Devoto M, Adam G, Arvanitakis S, Hadjisevastou H: Cystic fibrosis in Greece: typing with DNA probes and identification of the common molecular defect. Hum Genet 85:393-394, 1990.
  23. Cremonesi L, Ruocco L, Seia M, Russo S, Giunta A, Ronchetto P, Fenu L, Romano L, Devoto M, Romeo G, Ferrari M: Frequency of the deltaF508 mutation in a sample of 175 Italian cystic fibrosis patients. Hum Genet 85:400-402, 1990.
  24. Ronchetto P, Devoto M, Puliti A, Romeo G, Sokolov B, Kalinin VN, Vorsanova SG, Krainiaia GV, Reznik BY: Preliminary results on the frequency of the deltaF508 mutation in cystic fibrosis patients from the USSR. Hum Genet 85:423-424, 1990.
  25. European Working Group on Cystic Fibrosis Genetics (EWGCFG): Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. Hum Genet 85:436-442, 1990.
  26. Dianzani I, Camaschella C, Saglio G, Ferrero GB, Romeo G, Devoto M, Romano C, Cerone R, Giovannini M, Riva E, Trefz FK, Lichter‑Konecki U, Woo SLC: Haplotype distribution and molecular defects of PKU in Italy. J Inher Metab Dis 13:292-294, 1990.
  27. Dianzani I, Devoto M, Camaschella C, Saglio G, Ferrero GB, Cerone R, Romano C, Romeo G, Giovannini M, Riva E, Angeneydt F, Trefz FK, Okano Y, Woo SLC: Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy. Hum Genet 86:69-72, 1990.
  28. Ferrari M, Colombo C, Sebastio G, Castiglione O, Quattrucci S, Dallapiccola B, Leoni G, Zanda M, Romano L, Devoto M: Cystic fibrosis patients with liver disease are not genetically distinct. Am J Hum Genet 48:815-816, 1991.
  29. Kalaydjieva L, Dworniczak B, Aulehla Scholz C, Devoto M, Romeo G, Stuhrmann M, Horst J: Phenylketonuria mutations in Southern Europeans. Lancet 337:865, 1991.
  30. Devoto M, Ronchetto P, Fanen P, Telleria Orriols JJ, Romeo G, Goossens M, Ferrari M, Magnani C, Seia M, Cremonesi L: Screening for non deltaF508 mutations in 5 exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy. Am J Hum Genet 48:1127-1132, 1991.
  31. Devoto M, Castagnola S, Saha N, Chetsanga C, Allen M, Gyllensten U, Romeo G: Screening for the major cystic fibrosis mutation in non-Caucasian populations. Am J Hum Genet 49:903-904, 1991. PMCID: PMC1683156
  32. Peral B, Hernandez‑Chico C, San Millan JL, Granell R, Molano J, Carrasco S, Telleria JJ, Devoto M, Moreno F: The deltaF508 mutation and RFLP-linked loci in Spanish cystic fibrosis families. Hum Genet 87:516-517, 1991.
  33. Kalaydjieva L, Dworniczak B, Aulehla Scholz C, Devoto M, Romeo G, Stuhrmann M, Kucinskas V, Yurgelyavicius V, Horst J: Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria. J Med Genet 28:686-690, 1991. PMCID: PMC1017055
  34. Ronchetto P, Telleria JJ, Fanen P, Cremonesi L, Ferrari M, Magnani C, Seia M, Goossens M, Romeo G, Devoto M: A nonsense mutation (R1158X) and a splicing mutation (3849+4A->G) in exon 19 of CFTR. Genomics 12:417-418, 1992.
  35. Cossu P, Pirastu M, Nucaro A, Figus A, Balestrieri A, Borrone C, Giacchino R, Devoto M, Monni G, Cao A: Prenatal diagnosis of Wilson’s disease by analysis of DNA polymorphism. N Engl J Med 327:57, 1992.
  36. Kadasi L, Gecz J, Matusek J, Krivusova T, Ferak V, Devoto M, Hruskovic J, Romeo G: Deletion deltaF508 and haplotype analysis of CFTR gene region in Slovak CF patients. Hum Genet 89:305-306, 1992.
  37. Cremonesi L, Ferrari M, Belloni E, Magnani C, Seia M, Ronchetto P, Rady M, Russo MP, Romeo G, Devoto M: Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients associated with different clinical phenotypes. Hum Mutat 1:314-319, 1992.
  38. Lyonnet S, Bolino A*, Pelet A, Abel L, Nihoul‑Fekete C, Briard ML, Mok Sui V, Kaariainen H, Martucciello G, Lerone M, Puliti A, Yin L, Weissenbach J, Devoto M, Munnich A, Romeo G: A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet 4: 346-350, 1993.
  39. Luo Y, Ceccherini I, Pasini B, Matera I, Bicocchi MP, Barone V, Bocciardi R, Kaariainen H, Weber D, Devoto M, Romeo G: Close linkage with the RET proto‑oncogene and deletion mutations in autosomal dominant Hirschsprung disease. Hum Mol Genet 2:1803-1808, 1993.
  40. Petrukhin K, Fischer SG, Pirastu M, Tanzi RE, Chernov I, Devoto M, Brzustowicz LM, Cayanis E, Vitale E, Russo J, Matseoane D, Boukhgalter B, Wasco W, Figus AL, Loudianos J, Cao A, Sternlieb I, Evgrafov G, Parano E, Pavone L, Warburton D, Ott J, Penchaszadeh G, Scheinberg IH, Gilliam TC: Mapping, cloning, and genetic characterization of the region containing the Wilson disease gene. Nat Genet 5:338- 343, 1993
  41. Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM, Devoto M, Peppercorn J, Bush AI, Sterlieb I, Pirastu M, Gusella JF, Evgrafov O, Penchaszadeh GK, Honig B, Edelman IS, Soares MB, Scheinberg IH, Gilliam TC: The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 5:344-350, 1993.
  42. Casey B, Devoto M, Jones KL, Ballabio A: Mapping of a gene for familial situs abnormalities to human chromosome Xq24-q27.1. Nat Genet 5:403-407, 1993.
  43. Bolino A*, Devoto M, Enia G, Zoccali C, Weissenbach J, Romeo G: Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets. Eur J Hum Genet 1:269-279, 1993.
  44. Borgo G, Cabrini G, Mastella G, Ronchetto P, Devoto M, Romeo G: Phenotypic intrafamilial heterogeneity in cystic fibrosis. Clin Genet 44:48-49, 1993.
  45. DeLisi LE, Devoto M, Lofthouse R, Poulter M, Gang C, Smith A, Shields G, Bass N, Vita A, Morganti C, Ott J, Crow TJ: Search for linkage to schizophrenia on the X and Y chromosomes. Am J Med Genet 54:113-121, 1994.
  46. Magnani C, Cremonesi L, Belloni E, Ferrari M, Seia M, Russo MP, Devoto M, Ronchetto P, Romeo G: Informativity of intragenic microsatellites for carrier detection and prenatal diagnosis of CF in the Italian population. Clin Genet 45:135-139, 1994.
  47. Russo MP, Romeo G, Devoto M, Barbujani G, Cabrini G, Giunta A, D’Alcamo E, Leoni GB, Sangiuolo F, Magnani C, Cremonesi L, Ferrari M: Analysis of linkage disequilibrium between different CF mutations and three intragenic microsatellites in the Italian population. Hum Mutat 5:23-27, 1995.
  48. Gretz N, Ceccherini I, Kranzlin B, Kloting I, Devoto M, Rohmeiss P, Hocher B, Waldherr R, Romeo G: Gender-dependent disease severity in autosomal polycystic kidney disease of rats. Kidney Internat 48:496-500, 1995.
  49. European Working Group on Cystic Fibrosis Genetics: No evidence for segregation distortion of cystic fibrosis alleles among sibs of cystic fibrosis patients. Eur J Hum Genet 3:324-325, 1995.
  50. Ceccherini I, Zhang AL, Matera I, Yang G, Devoto M, Romeo G, Cass DT: Interstitial deletion of the endothelin-B receptor gene in the spotting lethal (sl) rat. Hum Mol Genet 4:2089-2096, 1995.
  51. Figus A, Angius A, Loudianos G, Bertini C, Dessi V, Loi A, Deiana M, Lovicu M, Olla N, Sole G, De Virgiliis S, Lilliu F, Farci AM, Nurchi AM, Giacchino R, Barabino A, Marassi MG, Zancan L, Greggio NA, Marcellini M, Solinas A, Deplano A, Barbera C, Devoto M, et al: Molecular pathology and haplotype analysis of Wilson’s disease in Mediterranean population. Am J Hum Genet 57:1318-1324, 1995. PMCID: PMC1801406
  52. Lloyd SE, Pearce SHS, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A*, Devoto M, Goodyer P, Rigden SPA, Wrong O, Jentsch TJ, Craig IW, Thakker RV: A common molecular basis for three inherited kidney stone diseases. Nature 379:445-449, 1996.
  53. Barone V, Weber D, Luo Y, Brancolini V*, Devoto M, Romeo G: Exclusion of linkage between RET and neuronal intestinal dysplasia type B. Am J Med Genet 62:195-198, 1996.
  54. Auricchio A, Brancolini V*, Casari G, Milla PJ, Smith VV, Devoto M, Ballabio A: The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. Am J Hum Genet 58:743-748, 1996.
  55. Fujita R, Bingham E, Forsythe P, McHenry C, Aita V, Navia BA, Dry K, Segal M, Devoto M, Bruns G, Wright AF, Ott J, Sieving PA, Swaroop A: A recombination outside the BB deletion refines the location of the X-linked retinitis pigmentosa locus RP3. Am J Hum Genet 59:152-158, 1996. PMCID: PMC1915116
  56. Bolino A*, Brancolini V*, Bono F, Bruni A, Gambardella A, Romeo G, Quattrone A, Devoto M: Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheats to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet 5:1051-1054, 1996.
  57. Spotila L, Caminis J, Devoto M, Sereda L, Ott J, Whyte MP, Tenenhouse A, Prockop DJ: Osteopenia in 37 members of seven families: Analysis based on a model of dominant inheritance. Mol Med 2:313-324, 1996.
  58. Cusi D, Barlassina C, Azzani T, Casari G, Citterio L, Devoto M, Glorioso N, Lanzani C, Manunta P, Righetti M, Rivera R, Stella P, Troffa C, Zagato L, Bianchi G: alpha-adducin polymorphism in primary hypertension: linkage and association studies; relationship to salt sensitivity. Lancet 349:1353-1357, 1997.
  59. Dann J, DeLisi LE, Devoto M, Laval S, Shields G, Smith A, Loftus J, Peterson P, Vita A, Comazzi M, Invernizzi G, Levinson DF, Wildenauer D, Nancarrow DJ, Mowry BJ, Coller D, Powell J, Crowe RR, Andreasen NC, Solverman JM, Mohs RC, Murray R, Wlaters MK, Lennon DP, Hayward NK, Albus M, Lerer B, Maier W, Crow TJ: A linkage study of schizophrenia to markers within Xp11 near the MAOB gene. Psychiatry Res 70:131-143, 1997.
  60. McGee TL, Devoto M, Ott J, Berson El, Dryja TP: Evidence that the penetrance at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. Am J Hum Genet 61:1059-1066, 1997. PMCID: PMC1716046
  61. Gambardella A, Bolino A*, Muglia M, Bono F, Valentino P, Oliveri RL, Sabatelli M, Brancolini V, Van Broeckhoven C, Romeo G, Devoto M, Quattrone A: Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheats (CMT4B). Neurology 50: 799-801, 1998.
  62. Devoto M, Shimoya K, Caminis J, Ott J, Tenenhouse A, Whyte MP, Sereda L, Hall S, Considine E, Williams CJ, Tromp G, Kuivaniemi H, Ala-Kokko L, Prockop DJ, Spotila LD: A first-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density are on chromosome 1p, 2p, and 4q. Eur J Hum Genet 6:151-157, 1998.
  63. Bleasel JF, Holderbaum D, Brancolini V*, Moskowitz RW, Considine EL, Prockop DJ, Devoto M, Williams CJ: Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders. Hum Mut 12:172-176, 1998.
  64. Rosatelli MC, Meloni A, Meloni A, Devoto M, Cao A, Scott HS, Peterson P, Heino M, Krohn KJ, Nagamine K, Kudoh J, Shimizu N, Antonarakis SE: A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Hum Genet 103:428-434, 1998.
  65. Bolino A*, Seri M, Caroli F, Eubanks J, Srinivasan J, Mandich P, Schenone A, Quattrone A, Romeo G, Catterall WA, Devoto M: Exclusion of the SCN2B gene as candidate for CMT4B. Eur J Hum Genet 6:629-634, 1998.
  66. Andrew LJ, Brancolini V*, Devoto M, Caeiro F, Marchegiani R, Reginato A, Gaucher A, Netter P, Gillet P, Loeuille D, Prockop DJ, Carr A, Wordsworth BF, Lathrop M, Butcher S, Considine E, Everts K, Nicod A, Walsh S, Williams CJ: Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. Am J Hum Genet 64:136-145, 1999. PMCID: PMC1377711
  67. Seri M, Cusano R, Forabosco P*, Cinti R, Caroli F, Picco P, Bini R, Brescia Morra V, De Michele G, Lerone M, Silengo M, Pela I, Borrone C, Romeo G, Devoto M: Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. Am J Hum Genet 64:586-593, 1999.
  68. Annese V, Latiano A, Bovio P, Forabosco P*, Piepoli A, Lombardi G, Andreoli A, Astegiano M, Gionchetti P, Riegler G, Sturniolo GC, Clementi M, Rappaport E, Fortina P, Devoto M, Gasparini P, Andriulli A: Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus. A GISC study. Eur J Hum Genet 7:567-573, 1999.
  69. Fimiani M, Seri M, Rubegni P, Cusano R, De Aloe G, Forabosco P*, Devoto M, Andreassi L, Renieri A: Autosomal dominant aplasia cutis congenita: report of a large Italian family and no hint for candidate chromosomal regions. Arch Dermatol Res 291: 637-642, 1999.
  70. Bolino A*, Levy ER, Muglia M, Conforti FL, LeGuern E, Salih AM, Georgiou DM, Christodoulou RK, Hausmanowa-Petrusewicz I, Mandich P, Gambardella A, Quattrone A, Devoto M, Monaco AP: Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22. Genomics 63:271-278, 2000.
  71. Bolino A*, Muglia M, Conforti FL, LeGuern E, Salih MAM, Georgiou DM, Christodoulou RK, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP: Charcot-Marie-Tooth type 4B is caused by mutation in the gene encoding myotubularin-related protein-2. Nat Genet 25:17-19, 2000.
  72. Griseri P, Sancandi M, Patrone G, Bocciardi R, Hofstra R, Ravazzolo R, Devoto M, Romeo G, Ceccherini I: A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease. Eur J Hum Genet 8:721-724, 2000.
  73. Lo Nigro C, Cusano R, Scaranari M, Cinti R, Forabosco P*, Brescia Morra V, De Michele G, Santoro L, Davies S, Hurst J, Devoto M, Ravazzolo R, Seri M: A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2. Eur J Hum Genet 8:777-782, 2000.
  74. Forabosco P*, Collins A, Latiano A, Annese V, Clementi M, Andriulli A, Fortina P, Devoto M, Morton NE: Combined segregation and linkage analysis of inflammatory bowel disease in the IBD1 region using severity to characterise Crohn’s disease and Ulcerative Colitis. Eur J Hum Genet 8:846-852, 2000.
  75. Vitale E, Brancolini V*, De Rienzo A, Bord L, Allada V, Sklansky M, Chae CU, Ferrero GB, Weber J, Devoto M, Casey B: Suggestive linkage of situs inversus and other left-right axis anomalies to chromosome 6p. J Med Genet 38:182-185, 2001.
  76. Krantz ID, Tonkin E, Smith M, Devoto M, Bottani A, Simpson C, Hofreiter M, Abraham V, Jukofsky L, Conti BP, Strachan T, Jackson L: Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia deLange syndrome. Am J Med Genet 101:120-129, 2001.
  77. Vitale E, Specchia C*, Devoto M, Angius A, Rong S, Rocchi M, Schwalb M, Demelas L, Paglietti D, Manca S, Mastropaolo C, Serra G: Novel X-linked mental retardation syndrome with short stature maps to Xq24. Am J Med Genet 103:1-8, 2001.
  78. Iolascon A, Giordano P, Storelli S, Li HH, Coppola B, Piga A, Fantola E, Forni G, Cianciulli P, Perrotta S, Magnano C, Maggio A, Mangiagli A, Devoto M: Thrombophilia in thalassemia major patients: analysis of genetic predisposing factors. Haematologica 86:1112-1113, 2001.
  79. Shugart YY, Specchia C*, Li HH, Doan BQ, Mathias RA, Devoto M: Comparison of sibpair based approaches for identifying quantitative trait loci underlying asthma in the Busselton families. Genet Epidemiol 21 (Supp.1): 198-204, 2001.
  80. Devoto M, Specchia C*, Li HH, Caminis J, Tenenhouse A, Rodriguez H, Spotila LD: Variance component linkage analysis indicates a QTL for femoral neck bone mineral density on chromosome 1p36. Hum Mol Genet 10:2447-2452, 2001.
  81. Vitale E, Cook S, Sun R, Specchia C*, Subramanian K, Rocchi M, Nathanson D, Schwalb M, Devoto M, Rohowsky-Kochlan C: Linkage analysis conditional on HLA status in a large North American pedigree supports the presence of a multiple sclerosis susceptibility locus on chromosome 12p12. Hum Mol Genet 11:295-300, 2002.
  82. Mirghomizadeh F, Bardtke B, Devoto M, Pfister M, Oeken J, König S, Vitale E, Riccio A, de Rienzo A, Zenner HP, Blin N: Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation. Eur J Hum Genet 10:95-99, 2002.
  83. Annese V, Piepoli A, Andriulli A, Latiano A, Napolitano G, Li HH, Forabosco P*, Devoto M: Association of Crohn’s disease and ulcerative colitis with haplotypes of the MLH1 gene in Italian inflammatory bowel disease patients. J Med Genet 39:332-334, 2002.
  84. Griseri P, Pesce B, Patrone G, Osinga J, Puppo F, Sancandi M, Hofstra R, Ravazzolo R, Devoto M, Ceccherini I: A rare haplotype of the RET proto-oncogene is a risk modifier allele in Hirschsprung disease. Am J Hum Genet 71:969-974, 2002.
  85. Kudaravalli R, Tidd T, Pinotti M, Ratti A, Santacroce R, Margaglione M, Dallapiccola B, Bernardi F, Fortina P, Devoto M, Pollak E: Polymorphic changes in the 5’ flanking region of Factor VII have a combined effect on promoter strength. Thromb Haemost 88:763-767, 2002.
  86. Perri P, Longo L*, Cusano R, McConville C, Rees SA, Devoto M, Conte M, Ferrara GB, Seri M, Romeo G, Tonini GP: Weak linkage at 4p16 to predisposition for human neuroblastoma. Oncogene 21:8356-8360, 2002.
  87. Paluru P, Ronan SM, Heon E, Devoto M, Wildenberg SC, Scavello G, Holleschau A, Mäkitie O, Cole WG, King RA, Young TL: New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci 44:1830-1836, 2003.
  88. Spotila LD, Rodriguez H, Koch M, Tenenhouse HS, Tenenhouse A, Li H, Devoto M: Association analysis of bone mineral density and single nucleotide polymorphisms in two candidate genes on chromosome 1p36. Calcified Tissue Int 73:140-146, 2003.
  89. Sancandi M, Griseri P, Pesce B, Patrone G, Puppo F, Lerone M, Martucciello G, Romeo G, Ravazzolo R, Devoto M, Ceccherini I: Single nucleotide polymorphic alleles in the 5’ region of the RET protooncogene define a risk haplotype in Hirschsprung disease. J Med Genet 40:714-718, 2003. PMCID: PMC1735579
  90. Palmieri O, Toth O, Ferraris A, Andriulli A, Latiano A, Annese V, Dallapiccola B, Vecchi M, Devoto M, Surrey S, Fortina P: CARD15 genotyping in inflammatory bowel disease patients by multiplex pyrosequencing. Clin Chem 49: 1675-1679, 2003.
  91. Annese V, Latiano A, Palmieri O, Li HH, Forabosco P, Ferraris A, Andriulli A, Vecchi M, Ardizzone S, Cottone M, Dallapiccola B, Rappaport E, Fortina P, Devoto M: Linkage of ulcerative colitis to the pericentromeric region of chromosome 16 in Italian inflammatory bowel disease families is independent of the presence of common CARD15 J Med Genet 40:837-841, 2003. PMCID: PMC1735307
  92. Sharan K, Surrey S, Ballas S, Borowski M, Devoto M, Wang KF, Sandler E, Keller M: Association of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease. Brit J Haematol 124:240-243, 2004.
  93. Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJM, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi E, Lander AD, Calof AL8, Li HH, Devoto M, Jackson LG: Cornelia de Lange syndrome is caused by mutations in Delangin (DLNG), the human homolog of the Drosophila Nipped-B Nat Genet 36:631-635, 2004.
  94. Sharan K, Surrey S, Ballas SK, Borowski MK, Devoto M, Wang KF, Sandler E, Keller MA: Reply to ‘Gender-specific disease modification by NOS3’. Brit J Haematol 126:161, 2004.
  95. Pfister M, Thiele H, Van Camp G, Fransen E, Apaydin F, Aydin O, Leistenschneider P, Devoto M, Zenner HP, Blin N, Nurnberg P, Ozkarakas H, Kupka S: A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. Cell Physiol Biochem 14:369-376, 2004.
  96. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID: NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 75:610-623, 2004. PMCID: PMC1182048
  97. Motzo C, Contu D, Cordell HJ, Lampis R, Congia M, Marrosu MG, Todd JA, Devoto M, Cucca F: Heterogeneity in the magnitude of the insulin gene effect on HLA risk in type 1 diabetes. Diabetes 53:3286-3291, 2004.
  98. Griseri P, Bachetti T, Puppo F, Lantieri F*, Ravazzolo R, Devoto M, Ceccherini I: A common haplotype at the 5’ end of the RET proto-oncogene, over-represented in Hirschsprung patients, is associated with reduced gene expression. Hum Mutat 25:189-195, 2005.
  99. Devoto M, Spotila LD, Stabley DL, Wharton GN, Rydbeck H, Korkko J, Kosich R, Prockop D, Tenenhouse A, Sol-Church K: Univariate and bivariate variance component linkage analysis of a whole genome scan for loci contributing to bone mineral density. Eur J Hum Genet 13:781-788, 2005.
  100. Paluru PC, Nallasamy S, Devoto M, Rappaport EF, Brown S, Young TL: Identification of a novel locus on chromosome 2q for autosomal dominant high myopia. Invest Ophth Vis Sci 46:2300-2307,
  101. Kaur M, Descipio C, McCallum J, Yaeger D, Devoto M, Jackson LG, Spinner NB, Krantz ID. Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. Am J Med Genet 138:27-31, 2005.
  102. Palmieri O, Latiano A, Valvano R*, D’Incà R, Vecchi M, Sturniolo GC, Saibeni S, Bossa F, Latiano T, Devoto M, Andriulli A, Annese V: MDR1 gene polymorphisms are not associated to IBD and response to therapy in Italian patients. Aliment Pharm Therap 22:1129-38, 2005.
  103. Lantieri F*, Griseri P, Puppo F, Campus R, Martucciello G, Ravazzolo R, Devoto M, Ceccherini I: Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles. Ann Hum Genet 70:12-26, 2006.
  104. Palmieri O, Latiano A, Valvano R*, D’Incà R, Vecchi M, Sturniolo GC, Saibeni S, Peyvandi F, Bossa F, Zagaria C, Andriulli A, Devoto M , Annese V: Variants of OCTN1-2 cation transporter genes are associated with both Crohn’s disease and ulcerative colitis. Aliment Pharm Therap 23:497-506, 2006.
  105. Latiano A, Palmieri O, Valvano R*, D’Incà R, Vecchi M, Ferraris A, Sturniolo GC, Spina L, Lombardi G, Dallapiccola B, Andriulli A, Devoto M, Annese V: Contribution of IBD5 locus to clinical features of IBD patients. Am J Gastroenterol 101:318-325, 2006.
  106. Nallasamy S, Kherani F, Yaeger D, McCallum J, Kaur M, Devoto M, Jackson LG, Krantz ID, Young TL: Cornelia de Lange syndrome and ophthalmologic findings: A genotype-phenotype correlation study. Arch Ophthalmol 124:552-557, 2006.
  107. Ioannidis J, Ng M, Sham P, Zintzaras E, Lewis C, Deng H, Econs M, Karasik D, Devoto M, Kammerer C, Spector T, Andrew T, Cupples L, Foroud T, Kiel DP, Koller D, Langdahl B, Mitchell B, Peacock M, Recker R, Shen H, Sol-Church K, Spotila L, Uitterlinden A, Wilson S, Kung A, Ralston S: Meta-analysis of genome wide scans provides evidence for gender and site specific regulation of bone mass. J Bone Miner Res 22:173-83, 2007.
  108. Longo L*, Panza E, Schena F, Seri M, Devoto M, Romeo G, Bini C, Pappalardo G, Tonini GP, Perri P: Genetic predisposition to familial neuroblastoma: identification of two novel genomic regions at 2p and 12p. Hum Hered 63:205-211, 2007.
  109. Nallasamy S, Paluru PC, Devoto M, Wasserman NF, Zhou J, Young TL: Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota. Mol Vis 13:229-236, 2007.
  110. Balaci L, Spada MC, Olla N, Sole G, Loddo L, Anedda F, Naitza S, Zuncheddu MA, Maschio A, Altea D, Uda M, Pilia S, Sanna S, Masala M, Crisponi L, Fattori M, Doratiotto S, Devoto M, Rassu S, Mereu S, Giua E, Cadeddu N, Atzeni R, Pelosi U, Corrias A, Perra R, Torrazza PL, Pirina P, Ginesu F, Marcias S, Schintu G, Del Giacco S, Manconi PE, Malerba G, Bisognin A, Trabetti E, Boner A, Pescollderungg L, Pignatti PF, Schlessinger D, Cao A, Pilia G: IRAK-M is involved in the pathogenesis of early-onset persistent asthma. Am J Hum Genet 80:1103-1114, 2007. PMCID: PMC1867098
  111. Baldassano R, Bradfield J, Monos D, Kim C, Glessner J, Casalunovo T, Frackelton E, Otieno F, Kanterakis S, Shaner J, Smith R, Eckert A, Robinson L, Onyiah C, Abrams D, Chiavacci R, Skraban R, Devoto M, Grant S, Hakonarson H: Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to pediatric Crohn’s disease. Gut 56:1171-1173, 2007. PMCID: PMC1955510
  112. Deglincerti A, De Giorgio R, Cefle K, Devoto M, Pippucci T, Castegnaro G, Panza E, Barbara G, Cogliandro R, Mungan Z, Palanduz S, Corinaldesi R, Romeo G, Seri M, Stanghellini V: A novel locus for syndromic chronic idiopathic intestinal pseudo-obstraction maps to chromosome 8q23-24. Eur J Hum Genet 15:889-897, 2007.
  113. Hakonarson H, Grant SFA, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Lawson ML, Robinson LJ, Skraban R, Chiavacci RM, Stanley CA, Kirsch SE, Monos DS, Devoto M, Qu HQ, Polychronakos C: A genome-wide association study identifies KIAA0350 as a novel type 1 diabetes gene. Nature 448:591-594, 2007.
  114. Baldassano RN, Bradfield J, Monos DS, Kim CE, Glessner JT, Casalunovo T, Frackelton EC, Otieno FG, Kanterakis S, Shaner JL, Smith RM, Eckert AW, Robinson LJ, Onyiah CC, Abrams DJ, Chiavacci RM, Skraban R, Devoto M, Grant SFA, Hakonarson H: Association of variants of the interleukin-23 receptor (IL23R) gene with susceptibility to pediatric Crohn’s disease. Clin Gastroenterol Hepatol 5:972-976, 2007. PMCID: PMC1955510
  115. Lantieri F*, Rydbeck H, Griseri P, Ceccherini I, Devoto M: Incorporating prior biological information in linkage studies increases power and limits multiple testing. BMC Proceedings 1 (Suppl.1):S89, 2007.
  116. Marroni F, Grazio D, Pattaro C, Devoto M, Pramstaller P: Estimates of genetic and environmental contribution to 43 quantitative traits support sharing of a homogeneous environment in an isolated population from South Tyrol, Italy. Hum Hered 65:175-182, 2008.
  117. Pitzalis M, Zavattari P*, Murru R, Deidda E, Zoledziewska M, Murru D, Moi L, Motzo C, Orrù V, Costa G, Solla E, Fadda E, Schirru L, Melis MC, Lai M, Mancosu C, Tranquilli S, Cuccu S, Rolesu M, Secci MA, Corongiu D, Contu D, Lampis R, Nucaro A, Pala G, Pacifico A, Maioli M, Frongia P, Chessa M, Ricciardi R, Lostia S, Marinaro AM, Milia AF, Landis N, Zedda MA, Whalen MB, Santoni F, Marrosu MG, Devoto M, Cucca F: Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia. BMC Medical Genetics 9:3, 2008. PMCID: PMC2259316
  118. Hakonarson H, Qu HQ, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Eckert AW, Annaiah K, Lawson ML, Otieno FG, Santa E, Shaner JL, Smith RM, Onyiah CC, Skraban R, Chiavacci RM, Robinson LJ, Stanley CA, Kirsch SE, Devoto M, Monos DS, Grant SF, Polychronakos C: A novel susceptibility locus for type 1 diabetes on chr12q13 identified by a genome-wide association study. Diabetes 57:1143-1146, 2008.
  119. Maris J, Mosse Y, Bradfield JP, Hou C, Monni S, Scott RH, Asgharzadeh S, Attiyeh EF, Diskin SJ, Laudenslager M, Winter C, Cole K, Glessner JT, Kim C, Frackelton EC, Casalunovo T, Eckert AW, Capasso M*, Rappaport EF, McConville C, London WB, Seeger RC, Rahman N, Devoto M, Grant SFA, Li H, Hakonarson H: Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. N Engl J Med 358:2585-2593, 2008. PMCID: PMC2742373
  120. Husain S, Yildirim-Toruner C, Rubio JP, Field J, The Southern MS Genetics Consortium, Schwalb M, Tolias PP, Cook S, Devoto M, Vitale E: Variants of ST8SIA1 are associated with risk of developing multiple sclerosis. PLoS ONE 3:e2653, 2008.
  121. Mossé YP, Laudenslager M, Longo L*, Cole KA, Wood A, Attiyeh EF, Laquaglia MJ, Lynch JE, Perri P, Hakonarson H, Torkamani A, Schork NJ, Brodeur GM, Tonini GP, Rappaport E, Devoto M, Maris JM: Identification of ALK as a major familial neuroblastoma predisposition gene. Nature 455:930-935, 2008. PMCID: PMC2672043
  122. Specchia C*, Scott K, Fortina P, Devoto M, Falkner B: Association of a polymorphic variant of the adiponectin gene with insulin resistance in African Americans. Clin Transl Sci 1: 194-199, 2008.
  123. Zhang H*, Sol-Church K, Rydbeck H, Stabley D, Spotila LD, Devoto M: High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density. Osteoporos Int 20:341–346, 2009.
  124. Elia J, Capasso M*, Zaheer Z*, Lantieri F*, Ambrosini P, Berrettini W, Devoto M, Hakonarson H: Candidate gene analysis in an on-going genome-wide association study of ADHD: Suggestive association signals in ADRA1A. Psychiatr Genet 19:134-41, 2009.
  125. Capasso M*, Devoto M, Hou C, Asgharzadeh S, Glessner JY, Attiyeh EF, Mosse YP, Diskin SJ, Cole KA, Bosse K, Diamond M, Laudenslager M, Winter C, Bradfield JP, Scott RH, Jagannathan J, Kim C, McConville C, London WB, Seeger RC, Grant SFA, Li H, Rahman N, Rappaport E, Hakonarson H, Maris JM: Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nat Genet 41:718-723, 2009. PMCID: PMC2753610
  126. Diskin SJ, Hou C, Glessner JT, Attiyeh EF, Laudenslager M, Bosse K, Cole K, Mosse YP, Wood A, Lynch JE, Pecor K, Diamond M, Winter C, Wang K, Kim C, Geiger EA, McGrady PW, Blakemore AIF, London WB, Shaikh TH, Bradfield J, Grant SFA, Li H, Devoto M, Rappaport ER, Hakonarson H, Maris JM: Copy number variation at 1q21.1 associated with neuroblastoma. Nature 459:987-991, 2009. PMCID: PMC2755253
  127. Elia J, Takeda T, Deberardinis R, Burke J, Accardo J, Ambrosini PJ, Blum NJ, Brown LW, Lantieri F*, Berrettini W, Devoto M, Hakonarson H: Nocturnal enuresis: A suggestive endophenotype marker for a subgroup of inattentive attention-deficit/hyperactivity disorder. J Pediatr 155:239-244, 2009.
  128. Lantieri F*, Jhun MA, Park J, Park T, Devoto M: Comparative analysis of different approaches for dealing with candidate regions in the context of a genome-wide association study. BMC Proceedings 3 (Suppl.7):S93, 2009. PMCID: PMC2795997
  129. Sleiman PMA, Flory J, Imielinski M, Bradfield JP, Annaiah K, Willis-Owen SAG, Wang K, Rafaels NM, Michel S, Bonnelykke K, Zhang H, Kim CE, Frackelton EC, Glessner JT, Hou C, Otieno FG, Santa E, Thomas K, Smith RM, Glaberson WR, Garris M, Chiavacci RM, Beaty TH, Ruczinski I, Orange J, Allen J, Spergel JM, Grundmeier R, Mathias RA, Christie JD, von Mutius E, Cookson WOC, Kabesch M, Moffatt MF, Grunstein MM, Barnes KC, Devoto M, Magnusson M, Li H, Grant SFA, Bisgaard H, Hakonarson H: Variants of DENND1B associated with asthma in children. N Engl J Med 362:36-44, 2010.
  130. Feldman G, Dalsey C, Fertala K, Azimi D, Fortina P, Devoto M, Pacifici M, Parvizi J: Identification of a 4 Mb region on chromosome 17q21 linked to developmental dysplasia of the hip in one 18-member, multigeneration family. Otto Aufranc Award. Clin Orthop Relat Res 468:337-44, 2010. PMCID: PMC2807013
  131. Elia J, Gai X, Xie HM, Perin JC, Wang L, Geiger E, Glessner JT, D’arcy M, deBeradinis R, Frackelton E, Kim C, Lantieri F*, Muganga BM, Wang L, Takeda T, Rappaport EF, Grant SFA, Berrettini W, Devoto M, Shaikh TH, Hakonarson H, White PS: Rare structural variants found in Attention-Deficit Hyperactivity Disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry 15:637-646, 2010. PMCID: PMC2877197
  132. Lantieri F*, Glessner JT, Hakonarson H, Elia J, Devoto M: Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum. Am J Med Genet B Neuropsychiatr Genet 153B:1127-1133, 2010.
  133. Wang K, Diskin SJ, Zhang H, Attiyeh EF, Winter C, Hou C, Schnepp RW, Diamond M, Bosse K, Mayes PA, Glessner J, Kim C, Frackelton E, Garris M, Wang Q, Glaberson W, Chiavacci R, Nguyen L, Jagannathan J, Saeki N, Sasaki H, Grant SFA, Iolascon A, Mosse YP, Cole KA, Li H, Devoto M, McGrady PW, London WB, Capasso M*, Rahman N, Hakonarson H, Maris JM: Integrative genomics identifies LMO1 as a neuroblastoma oncogene. Nature 469:216-220, 2011. PMCID: PMC3320515
  134. Nguyen L, Diskin S, Capasso M*, Wang K, Diamond M, Glessner J, Kim C, Attiyeh E, Mosse Y, Cole K, Iolascon A, Devoto M, Hakonarson H, Li H, Maris J: Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility loci. PLoS Genetics 7:e1002026, 2011. PMCID: PMC3060064
  135. Devoto M, Specchia C*, Laudenslager M, Longo L, Hakonarson H, Maris J, Mossé Y: Genome-wide linkage analysis to identify genetic modifiers of ALK mutation penetrance in familial neuroblastoma. Hum Hered 71:135-139, 2011. PMCID: PMC3136385
  136. Guo T, McDonald McGinn D, Blonska A, Shanske A, Bassett A, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Goldmuntz E, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B, and the International Chromosome 22q11.2 Consortium: Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardiofacial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat 32:1278-1289, 2011. PMCID: PMC3196824
  137. Elia J, Glessner J, Wang K, Takahashi N, Shtir C, Hadley D, Sleiman P, Zhang H, Kim C, Robison R, Lyon G, Flory J, Bradfield J, Imielinski M, Hou C, Frackelton E, Chiavacci R, Sakurai T, Rabin C, Middleton F, Thomas K, Garris M, Mentch F, Freitag C, Steinhausen H, Todorov A, Reif A, Rothenberger A, Franke B, Mick E, Roeyers H, Buitelaar J, Lesch K, Banaschewski T, Ebstein R, Mulas F, Oades R, Sergeant J, Sonuga-Barke E, Renner T, Romanos M, Romanos J, Warnke A, Walitza S, Meyer J, Pálmason H, Seitz C, Loo S, Smalley S, Biederman J, Kent L, Asherson P, Anney R, Gaynor J, Shaw P, Devoto M, White P, Grant S, Buxbaum J, Rapoport J, Williams N, Nelson S, Faraone S, Hakonarson H: Genome wide copy number variation study associates metabotropic glutamate receptor gene networks with Attention Deficit Hyperactivity Disorder. Nat Genet 44:78-84, 2011.
  138. Goldenberg P*, Calkins ME, Richard J, McDonald-McGinn D, Zackai E, Mitra N, Emanuel B, Devoto M, Borgmann-Winter K, Kohler C, Conroy CG, Gur R, Gur R: Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and at-risk for psychosis. Am J Med Genet B Neuropsychiatr Genet 159B:87-93, 2012. PMCID: PMC3272485
  139. Latorre V*, Diskin S, Diamond M, Zhang H, Hakonarson H, Maris J, Devoto M: Replication of neuroblastoma SNP association at the BARD1 locus in African-Americans. Cancer Epidemiol Biomarkers Prev 21:658-663, 2012. PMCID: PMC3319325
  140. Bosse K, Diskin S, Cole K, Wood A, Schnepp R, Norris G, Jagannathan J, Laquaglia M, Winter C, Diamond M, Hou C, Attiyeh E, Mosse Y, Dizin E, Zhang Y, Asgharzadeh S, Seeger R, Capasso M*, Pawel B, Devoto M, Hakonarson H, Rappaport E, Irminger-Finger I, Maris J: Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and tumorigenicity. Cancer Research 72:2068-2078, 2012. PMCID: PMC3328617
  141. Danjou F*, Anni F, Fortina P, Perseu L, Satta S, Dessi C, Lai ME, Devoto M, Galanello R: Genetic modifiers of beta-thalassemia and clinical severity as assessed by age at first transfusion. Haematologica 97:989-993, 2012. PMCID: PMC3396667
  142. Diskin S, Capasso M*, Schnepp R, Cole K, Attiyeh E, Hou C, Diamond M, Carpenter E, Winter C, Lee H, Jagannathan J, Latorre V, Iolascon A, Hakonarson H, Devoto M, Maris J: Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. Nat Genet 44:1126-1130, 2012. PMCID: PMC3459292
  143. Herman S, Guo T, McGinn D, Blonska A, Shanske A, Bassett A, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio M, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins A, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B; and the International Chromosome 22q11.2 Consortium. Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Am J Med Genet A 158A:2781-2787, 2012.
  144. Widdershoven J, Bowser M, Sheridan M, McDonald-McGinn D, Zackai E, Solot C, Kirschner R, Beemer F, Morrow B, Devoto M, Emanuel B: A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients. Int J Pediatr Otorhinolaryngol 77:123-127, 2013.
  145. Capasso M*, Diskin S, Totaro F, Longo L*, De Mariano M, Russo R, Cimmino F, Hakonarson H, Tonini GP, Devoto M, Maris J, Iolascon A: Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility. Carcinogenesis 34:605-611, 2013.
  146. Cui S, Leyva-Vega M, Tsai E*, Eauclaire S, Glessner J, Hakonarson H, Devoto M, Haber B, Spinner N, Matthews R: Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene. Gastroenterology 144:1107-1115, 2013.
  147. Gallant E, Francey L, Fetting H, Kaur M, Hakonarson H, Clark D, Devoto M, Krantz I: Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus. Am J Otolaryngol 34:230-235, 2013.
  148. Feldman G, Parvizi J, Levenstien M*, Scott K, Erickson J, Fortina P, Devoto M, Peters C: Developmental dysplasia of the hip: Linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multi-generation family. J Bone Miner Res 28:2540-2549, 2013.
  149. 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.
  150. 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. PMCID:PMC3982892
  151. 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.
  152. 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.
  153. 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.
  154. 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.
  155. 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.
  156. 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.
  157. 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.
  158. 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.
  159. 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.
  160. 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.
  161. 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.
  162. 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.
  163. 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.
  164. 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.
  165. 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.
  166. 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.
  167. 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.
  168. 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.
  169. 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.
  170. 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.
  171. 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 PLOS Genet 14:e1007532, 2018.
  172. 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.
  173. 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.
  174. 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.
  175. 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.
  176. 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.
  177. 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.
  178. 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 Carcinogenesis 41:284-295, 2020.
  179. 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 26(6):909-918, 2020.
  180. 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(3):1068-1084, 2020.
  181. 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 genetics of immune cells informing on autoimmunity and therapy. Nat Genet 52:1036-1045, 2020.
  182. 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 (in press)

Research Publications, peer – reviewed reviews (* indicates Dr. Devoto’s mentee):

  1. Romeo G, Devoto M, Galietta LJV: Why is the cystic fibrosis gene so frequent? Hum Genet 84:1-5, 1989.
  2. Devoto M, Galietta LJV, Romeo G: L’identificazione del gene della fibrosi cistica. Rassegna. Riv Ital Ped 15:559‑566, 1989.
  3. Brancolini V*, Devoto M: Genetic linkage studies for the identification of cancer-related genes. Ann Ist Super Sanita 32:173-180, 1996.
  4. Forabosco P*, Falchi M, Devoto M: Statistical tools for linkage analysis and genetic association studies. Expert Rev Mol Diagn 5:781-796, 2005.
  5. Elia J, Devoto M: ADHD Genetics: 2007 update. Curr Psychiatry Rep 9:434-439, 2007.

Research Publications, non-peer reviewed:

  1. Devoto M, De Benedetti L, Ronchetto P, Romano L, Romeo G, Tsui LC, Dean M, Collins F, Seia M, Piceni Sereni L, et al: New restriction fragment length polymorphism (probe E9) reveals the highest linkage disequilibrium in Italian CF patients. Acta Univ Carol [Med] (Praha) 36:102-104, 1990.
  2. De Benedetti L, Ronchetto P, Devoto M, Romeo G, Krainiaia GV, Reznik BY: Preliminary results on cystic fibrosis haplotypes from patients diagnosed in Odessa. Acta Univ Carol [Med] (Praha) 36:112-114, 1990.
  3. Devoto M: Origin and diffusion of the major CF mutation in Europe. The European Working Group on CF Genetics (EWGCFG). Adv Exp Med Biol 290:63-71, 1991.
  4. Puliti A, Orriols JJ, Ronchetto P, Fenu L, Devoto M, Romeo G, Kadasi L, Gecz J, Ferak V. Frequency of cystic fibrosis mutations and associated haplotype distribution in Slovak CF patients: Adv Exp Med Biol 290:383-5, 1991.
  5. Ronchetto P, Fenu L, Puliti A, Devoto M, Romano L, Romeo G, Cremonesi L, Carrera P, Ruocco L, Seia M, et al: Frequency of cystic fibrosis mutations among Italian patients. Adv Exp Med Biol 290:387-90, 1991.
  6. Seia M, Cozzi G, Sereni L, Ferrari M, Cremonesi L, Covone AE, Fenu L, Ronchetto P, Devoto M, Romeo G: DNA technology for prenatal diagnosis of cystic fibrosis in Italy. Adv Exp Med Biol 290:399-401, 1991.
  7. Bleasel JF, Holderbaum D, Brancolini V, Moskowitz RW, Haqqi TM, Considine E, Prockop DJ, Devoto M, Williams CJ: Arg519-Cys mutation in COL2A1: evidence for multiple founders. Ann NY Acad Sci 785: 215-218, 1996.
  8. ToniniGP, McConville C, CusanoR, ReesSA, Dagnino M, LongoL, De BernardiB, ConteM, GaraventaA, RomeoG, Devoto M, Seri M: Exclusion of candidate genes and chromosomal regions in familial neuroblastoma. Int J Mol Med 7:85-89, 2001.
  9. Perri P, Longo L, McConville C, Cusano R, Rees SA, Seri M, Conte M, Romeo G, Devoto M, Tonini GP: Linkage analysis in families with recurrent neuroblastoma. Ann N Y Acad Sci 963:74-84, 2002.

Editorials, Reviews, Chapters, including participation in committee reports (print or other media):

  1. Devoto M, Vitale E, De Benedetti L, Mastella G, Romano C, Santamaria F, Romeo G: Family studies of cystic fibrosis in Italy: Test of homogeneity versus heterogeneity. In: Mastella G and Quinton PM (Eds.) Cellular and Molecular Basis of Cystic Fibrosis. San Francisco Press Inc., San Francisco, 1988, pp. 47-50.
  2. Breuning MH, Devoto M, Romeo G (Eds.): Polycystic Kidney Diseases. Contributions to Nephrology Vol. 97. Karger, Basel, 1991
  3. Devoto M: From gene mapping to the identification of mutations: The example of the Hirschsprung disease genes. In: Pawlowitzki I-H, Edwards JH, Thompson EA (Eds.) Genetic Mapping of Disease Genes (Chapter 18), Academic Press LTD, London, 1997, pp.239-246.
  4. Devoto M: Un’associazione che funziona. Rr – Ricerca Roche 29: 74-76, 2000.
  5. Gordon D, Devoto M: Advances in family-based association analysis. Introduction. Hum Hered 66:65-66, 2008.
  6. Devoto M, Gordon D: Analysis of human genetic data: A celebratory issue of Human Heredity honoring Dr. Jurg Ott. Hum Hered 71:85, 2011.
  7. Vieland V, Devoto M: Next generation linkage analysis. Hum Hered 72:227, 2011.
  8. Elia J, Lantieri F, Toshinobu T, Gai X, White P, Devoto M, Hakonarson H: Attention-deficit hyperactivity disorder. In: Nurnberger J, Jr., and Berrettini W (Eds.) Principles of Psychiatric Genetics (Chapter 15), Cambridge University Press, 2012, pp.168-182.
  9. Devoto M, Falchi M: Genetic mapping of quantitative trait loci for disease-related phenotypes. Scott A. Rifkin (Ed.), Quantitative Trait Loci (QTL): Methods and Protocols, Methods in Molecular Biology 871:281-311, Springer Science+Business Media New York, 2012.
  10. Lantieri F, Levenstien M, Devoto M: Integration of linkage analysis and next-generation sequencing data. Y.Y. Shugart (Ed.), Applied Computational Genomics, Translational Bioinformatics 1:21-34, Springer Science+Business Media Dordrecht, 2012.
  11. Génin E, Devoto M. Integration of omics data in genetic epidemiology. Hum Hered 79:109-110, 2015.
  12. Kelsen J, Dawany N, Conrad M, Devoto M: Commentary on: Mutations in Interleukin-10 receptor and clinical phenotypes in patients with very early-onset inflammatory bowel disease: A Chinese VEO-IBD Collaboration Group survey. Inflamm Bowel Dis 23:591-592, 2017.

Books:

  1. Romeo G, Devoto M: Dal DNA alle malattie ereditarie. Editrice Ambrosiana, Milano, 1989.

Patents:

  1. Devoto M, Sol-Church K, Spotila L: Chromosome 1p36 polymorphisms and low bone mineral density. United States Patent 7618779 (8067166), November 17, 2009.