Genome sequencing in congenital cataracts improves diagnostic yield

Author:

Ma Alan123ORCID,Grigg John R.1456,Flaherty Maree45,Smith James45,Minoche Andre E.7,Cowley Mark J.789ORCID,Nash Benjamin M.1310ORCID,Ho Gladys310,Gayagay Thet10,Lai Tiffany10,Farnsworth Elizabeth10,Hackett Emma L.10,Slater Katrina10,Wong Karen10,Holman Katherine J.10,Jenkins Gemma10,Cheng Anson1,Martin Frank45,Brown Natasha J.1112,Leighton Sarah E.13,Amor David J.1112ORCID,Goel Himanshu14,Dinger Marcel E.715,Bennetts Bruce310,Jamieson Robyn V.123

Affiliation:

1. Eye Genetics Research Unit, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute University of Sydney Sydney New South Wales Australia

2. Department of Clinical Genetics, Western Sydney Genetics Program The Children's Hospital at Westmead Sydney New South Wales Australia

3. Specialties of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health University of Sydney Sydney New South Wales Australia

4. Department of Ophthalmology The Children's Hospital at Westmead Sydney New South Wales Australia

5. Specialty of Ophthalmology University of Sydney Sydney New South Wales Australia

6. Save Sight Institute Sydney Eye Hospital Sydney New South Wales Australia

7. Kinghorn Centre for Clinical Genomics Garvan Institute of Medical Research Darlinghurst New South Wales Australia

8. Children's Cancer Institute, Lowy Cancer Research Centre University of New South Wales Randwick New South Wales Australia

9. St Vincent's Clinical School, Faculty of Medicine UNSW Australia Sydney New South Wales Australia

10. Sydney Genome Diagnostics, Western Sydney Genetics Program The Children's Hospital at Westmead Sydney New South Wales Australia

11. Department of Paediatrics University of Melbourne Parkville Victoria Australia

12. Victorian Clinical Genetics Services Murdoch Children's Research Institute Melbourne Australia

13. Tasmanian Clinical Genetics Service Hobart Australia

14. Hunter Genetics Newcastle New South Wales Australia

15. School of Biotechnology and Biomolecular Sciences, Faculty of Science UNSW Sydney New South Wales Australia

Funder

Ophthalmic Research Institute of Australia

National Health and Medical Research Council

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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