Genotype–phenotype correlation at codon 1740 of SETD2

Author:

Rabin Rachel1ORCID,Radmanesh Alireza2,Glass Ian A.34,Dobyns William B.345ORCID,Aldinger Kimberly A.3,Shieh Joseph T.6,Romoser Shelby7,Bombei Hannah7,Dowsett Leah8ORCID,Trapane Pamela9,Bernat John A.7,Baker Janice10,Mendelsohn Nancy J.10,Popp Bernt11,Siekmeyer Manuela12,Sorge Ina13,Sansbury Francis Hugh14,Watts Patrick15,Foulds Nicola C.16,Burton Jennifer17,Hoganson George17,Hurst Jane A.18,Menzies Lara18,Osio Deborah19,Kerecuk Larissa20,Cobben Jan M.2122,Jizi Khadijé23,Jacquemont Sebastien2425,Bélanger Stacey A.2627,Löhner Katharina28,Veenstra‐Knol Hermine E.28,Lemmink Henny H.28,Keller‐Ramey Jennifer29,Wentzensen Ingrid M.29,Punj Sumit29,McWalter Kirsty29,Lenberg Jerica30,Ellsworth Katarzyna A.30,Radtke Kelly31,Akbarian Schahram32ORCID,Pappas John133ORCID

Affiliation:

1. Clinical Genetic Services, Department of PediatricsNYU School of Medicine New York New York USA

2. Division of Pediatric Neuroradiology, Department of RadiologyNYU School of Medicine New York New York USA

3. Center for Integrative Brain ResearchSeattle Children's Research Institute Seattle Washington USA

4. Department of Pediatrics, Division of Medical GeneticsUniversity of Washington Seattle Washington USA

5. Department of NeurologyUniversity of Washington Seattle Washington USA

6. Institute for Human Genetics, Division of Medical Genetics, Department of PediatricsBenioff Children's Hospital, University of California San Francisco San Francisco California USA

7. Division of Medical Genetics and Genomics, Stead Family Department of PediatricsUniversity of Iowa Hospitals Iowa City Iowa USA

8. Kapi'olani Medical Specialists and Department of PediatricsUniversity of Hawai'i John A. Burns School of Medicine Honolulu Hawaii USA

9. Division of Pediatric Genetics, Department of PediatricsUniversity of Florida College of Medicine‐Jacksonville Jacksonville Florida USA

10. Genomic Medicine, Children's Minnesota Minneapolis Minnesota USA

11. Institute of Human GeneticsUniversity of Leipzig Hospitals and Clinics Leipzig Germany

12. Department of Pediatrics Hospital for Children and AdolescentsUniversity of Leipzig Hospitals and Clinics Leipzig Germany

13. Department of Pediatric RadiologyUniversity of Leipzig Hospitals and Clinics Leipzig Germany

14. All Wales Medical Genomics ServiceInstitute of Medical Genetics, Cardiff and Vale University Health Board, University Hospital of Wales Cardiff UK

15. Department of OphthalmologyCardiff and Vale University Health Board, University Hospital of Wales Cardiff UK

16. Wessex Clinical Genetics ServicesSouthampton University Hospital NHS Foundation Trust Southampton UK

17. University of Illinois College of Medicine at Peoria Peoria Illinois USA

18. Department of Clinical GeneticsGreat Ormond Street Hospital London UK

19. Department of Clinical GeneticsBirmingham Women's and Children's NHS Foundation Trust Birmingham UK

20. Renal DepartmentBirmingham Women's and Children's NHS Foundation Trust Birmingham UK

21. North West Thames Regional Genetic ServicesNorthwick Park Hospitals NHS Foundation Trust London UK

22. Emma Children Hospital Amsterdam The Netherlands

23. CHU Sainte‐Justine Hospital Montreal Quebec Canada

24. CHU Sainte‐Justine Research Centre Montreal Quebec Canada

25. Department of PediatricsUniversity of Montreal Montreal Quebec Canada

26. Development ClinicCHU Sainte‐Justine Hospital Montreal Quebec Canada

27. Department of MedicineUniversity of Montreal Montreal Quebec Canada

28. Department of GeneticsUniversity of Groningen, University Medical Centre Groningen Groningen The Netherlands

29. GeneDx Gaithersburg Maryland USA

30. Rady Children's Hospital Institute for Genomic Medicine San Diego California USA

31. Department of Clinical DiagnosticsAmbry Genetics Aliso Viejo California USA

32. Friedman Brain Institute and Department of PsychiatryIcahn School of Medicine at Mount Sinai New York New York USA

33. Clinical GeneticsNYU Orthopedic Hospital New York New York USA

Funder

Deutsche Forschungsgemeinschaft

National Institute for Health Research

Department of Health, Australian Government

Medical Research Council

Cancer Research UK

Wellcome Trust

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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