Heterozygous variants in <i>PRPF8</i> are associated with neurodevelopmental disorders-Reference-Cited by-同舟云学术

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders

Published:2022-05-11 Issue:9 Volume:188 Page:2750-2759
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

O'Grady Lauren¹²^ORCID,Schrier Vergano Samantha A.³⁴^ORCID,Hoffman Trevor L.⁵,Sarco Dean⁶,Cherny Sara⁷,Bryant Emily⁸^ORCID,Schultz‐Rogers Laura⁹,Chung Wendy K.¹⁰,Sacharow Stephanie¹¹¹²,Immken Ladonna L.¹³,Holder Susan¹³,Blackwell Rebecca R.¹³,Buchanan Catherine¹³,Yusupov Roman¹⁴,Lecoquierre François¹⁵^ORCID,Guerrot Anne‐Marie¹⁵,Rodan Lance¹¹¹²^ORCID,de Vries Bert B. A.¹⁶^ORCID,Kamsteeg Erik Jan¹⁶,Santos Simarro Fernando¹⁷^ORCID,Palomares‐Bralo Maria¹⁷^ORCID,Brown Natasha¹⁸¹⁹,Pais Lynn²⁰,Ferrer Alejandro²¹,Klee Eric W.²¹,Babovic‐Vuksanovic Dusica²¹,Rhodes Lindsay²²,Person Richard²²,Begtrup Amber²²,Keller‐Ramey Jennifer²²,Santiago‐Sim Teresa²²,Schnur Rhonda E.²²,Sweetser David A.¹^ORCID,Gold Nina B.¹

Affiliation:

1. Division of Medical Genetics and Metabolism Massachusetts General Hospital for Children Boston Massachusetts USA

2. MGH Institute of Health Professions Charlestown Massachusetts USA

3. Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughter Norfolk Virginia USA

4. Department of Pediatrics Eastern Virginia Medical School Norfolk Virginia USA

5. Department of Genetics Southern California Kaiser Permanente Medical Group Anaheim California USA

6. Department of Neurology Kaiser Permanente—Los Angeles Medical Center Los Angeles California USA

7. Division of Cardiology Ann & Robert H. Lurie Children's Hospital Chicago Illinois USA

8. Division of Neurology Ann & Robert H. Lurie Children's Hospital Chicago Illinois USA

9. Department of Pathology and Laboratory Medicine University of North Carolina at Chapel Hill Chapel Hill North Carolina USA

10. Department of Pediatrics and Medicine Columbia University Irving Medical Center New York New York USA

11. Division of Genetics and Genomics Boston Children's Hospital Boston Massachusetts USA

12. Harvard Medical School Boston Massachusetts USA

13. Department of Clinical & Metabolic Genetics Dell Children's Medical Group Austin Texas USA

14. Division of Pediatric Genetics Joe DiMaggio Children's Hospital Hollywood Florida USA

15. Department of Genetics and Reference Center for Developmental Disorders FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen Rouen France

16. Department of Human Genetics Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior Nijmegen The Netherlands

17. Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII Madrid Spain

18. Department of Paediatrics The University of Melbourne Parkville Victoria Australia

19. Victorian Clinical Genetics Services Murdoch Children's Research Institute Parkville Victoria Australia

20. Broad Center for Mendelian Genomics Broad Institute of MIT and Harvard Cambridge Massachusetts USA

21. Center for Individualized Medicine Quantitative Health Sciences, Mayo Clinic Rochester Minnesota USA

22. GeneDx, Inc. Gaithersburg Maryland USA

Funder

JPB Foundation

Greenwall Foundation

Massachusetts General Hospital

National Eye Institute

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62772

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