Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

Author:

Di Gregorio E.12,Riberi E.3,Belligni E.F.3,Biamino E.3,Spielmann M.4,Ala U.56,Calcia A.1,Bagnasco I.7,Carli D.1,Gai G.2,Giordano M.8,Guala A.9,Keller R.10,Mandrile G.211,Arduino C.2,Maffè A.12,Naretto V.G.2,Sirchia F.12,Sorasio L.13,Ungari S.12,Zonta A.2,Zacchetti G.28,Talarico F.2,Pappi P.2,Cavalieri S.1,Giorgio E.1,Mancini C.1,Ferrero M.1,Brussino A.1,Savin E.2,Gandione M.14,Pelle A.1115,Giachino D.F.1115,De Marchi M.1115,Restagno G.16,Provero P.56,Cirillo Silengo M.3,Grosso E.2,Buxbaum J.D.1718192021,Pasini B.12,De Rubeis S.1718,Brusco A.12ORCID,Ferrero G.B.3

Affiliation:

1. University of Torino; Department of Medical Sciences; Turin Italy

2. Medical Genetics Unit; Città della Salute e della Scienza University Hospital; Turin Italy

3. Department of Public Health and Pediatrics; University of Torino; Turin Italy

4. Research Group Mundlos; Max Planck Institute for Molecular Genetics; Berlin Germany

5. Computational Biology Unit; Molecular Biotechnology Center (MBC); Turin Italy

6. Department of Molecular Biotechnology and Health Sciences; University of Torino; Turin Italy

7. Neuropsichiatria Infantile; Martini Hospital, ASL TO1; Turin Italy

8. Department of Health Sciences, Laboratory of Genetics; University of Eastern Piedmont and Interdisciplinary Research Center of Autoimmune Diseases; Novara Italy

9. SOC Pediatria; Castelli Hospital; Verbania Italy

10. Mental Health Department, ASL TO2; Adult Autism Center; Turin Italy

11. Medical Genetics; San Luigi Gonzaga University Hospital; Orbassano (TO) Italy

12. Molecular Biology and Genetics Unit; Santa Croce e Carle Hospital; Cuneo Italy

13. Pediatrics; Santa Croce e Carle Hospital; Cuneo Italy

14. Department of Neuropsychiatry; University of Torino; Turin Italy

15. Department of Clinical and Biological Sciences; University of Torino; Turin Italy

16. Laboratory of Molecular Genetics; Città della Salute e della Scienza University Hospital; Turin Italy

17. Seaver Autism Center for Research and Treatment; Icahn School of Medicine at Mount Sinai; New York New York

18. Department of Psychiatry; Icahn School of Medicine at Mount Sinai; New York New York

19. Department of Neuroscience; Icahn School of Medicine at Mount Sinai; New York New York

20. Friedman Brain Institute; Icahn School of Medicine at Mount Sinai; New York New York

21. Department of Genetics and Genomic Sciences; Icahn School of Medicine at Mount Sinai; New York New York. Mindich Child Health and Development Institute; Icahn School of Medicine at Mount Sinai; New York New York

Funder

Wellcome Trust

MURST60%

Associazione E.E. Rulfo

Associazione “Enrico e Ilaria sono con noi” ONLUS

Fondazione FORMA

The Deutsche Forschungsgemeinschaft (DFG)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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