Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( KIF1A )

Author:

Kaur Simranpreet12ORCID,Van Bergen Nicole J.12ORCID,Verhey Kristen J.3ORCID,Nowell Cameron J.4ORCID,Budaitis Breane5ORCID,Yue Yang3ORCID,Ellaway Carolyn67ORCID,Brunetti‐Pierri Nicola89ORCID,Cappuccio Gerarda89ORCID,Bruno Irene10ORCID,Boyle Lia11ORCID,Nigro Vincenzo10,Torella Annalaura10ORCID,Roscioli Tony1213ORCID,Cowley Mark J.141516ORCID,Massey Sean1ORCID,Sonawane Rhea17ORCID,Burton Matthew D.18,Schonewolf‐Greulich Bitten19ORCID,Tümer Zeynep19ORCID,Chung Wendy K.20ORCID,Gold Wendy A.212223ORCID,Christodoulou John12624ORCID

Affiliation:

1. Brain and Mitochondrial Research Group, Murdoch Children's Research Institute Royal Children's Hospital Melbourne Victoria Australia

2. Department of Paediatrics University of Melbourne Melbourne Victoria Australia

3. Department of Cell and Developmental Biology University of Michigan Medical School Ann Arbor Michigan

4. Drug Discover Biology, Monash Institute of Pharmaceutical Sciences Monash University Melbourne Victoria Australia

5. Cellular and Molecular Biology Program University of Michigan Medical School Ann Arbor Michigan

6. Discipline of Genomic Medicine, School of Medical Sciences, Faculty of Medicine and Health University of Sydney Sydney New South Wales Australia

7. Western Sydney Genetics Program Children's Hospital at Westmead Westmead New South Wales Australia

8. Department of Translational Medicine University of Naples “Federico II” Naples Italy

9. Telethon Institute of Genetics and Medicine Pozzuoli Italy

10. Department of Precision Medicine University of Campania “Luigi Vanvitelli” Naples Italy

11. Division of Molecular Genetics Columbia University Irving Medical Center New York New York

12. New South Wales Health Pathology Randwick New South Wales Australia

13. Neuroscience Research Australia University of New South Wales Sydney New South Wales Australia

14. Kinghorn Centre for Clinical Genomics Garvan Institute of Medical Research Sydney New South Wales Australia

15. St Vincent's Clinical School UNSW Sydney Sydney New South Wales Australia

16. Children's Cancer Institute, Lowy Cancer Research Centre UNSW Sydney New South Wales Australia

17. Faculty of Science, Engineering and Built Environment Deakin University Melbourne Australia

18. Flow Cytometry and Imaging Facility, Murdoch Children's Research Institute Royal Children's Hospital Melbourne Victoria Australia

19. Department of Clinical Genetics, Kennedy Center Copenhagen University Hospital, Rigshospitalet Glostrup Denmark

20. Departments of Paediatrics and Medicine Columbia University Medical Center New York New York

21. Molecular Neurobiology Research Laboratory, Kids Research Children's Hospital at Westmead, and The Children's Medical Research Institute Westmead New South Wales Australia

22. Kids Neuroscience Centre, Kids Research Children's Hospital at Westmead Westmead New South Wales Australia

23. School of Medical Sciences and Discipline of Child and Adolescent Health, Faculty of Medicine and Health The University of Sydney Sydney New South Wales Australia

24. Victorian Clinical Genetics Services Royal Children's Hospital Melbourne Victoria Australia

Funder

National Science Foundation

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference65 articles.

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