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Genome sequencing in congenital cataracts improves diagnostic yield.

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第一作者: Alan,Ma
第一单位: 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.;Department of Clinical Genetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.;Specialties of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
作者单位: 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.;Department of Clinical Genetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.;Specialties of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia. [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.;Department of Ophthalmology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.;Specialty of Ophthalmology, University of Sydney, Sydney, New South Wales, Australia.;Save Sight Institute, Sydney Eye Hospital, Sydney, New South Wales, Australia. [2] Department of Ophthalmology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.;Specialty of Ophthalmology, University of Sydney, Sydney, New South Wales, Australia. [3] Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia. [4] Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.;Children's Cancer Institute, Lowy Cancer Research Centre, University of New South Wales, Randwick, New South Wales, Australia.;St Vincent's Clinical School, Faculty of Medicine, UNSW Australia, Sydney, New South Wales, Australia. [5] 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.;Specialties of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.;Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia. [6] Specialties of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.;Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia. [7] Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia. [8] 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. [9] Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.;Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia. [10] Tasmanian Clinical Genetics Service, Hobart, Australia. [11] Hunter Genetics, Newcastle, New South Wales, Australia. [12] Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.;School of Biotechnology and Biomolecular Sciences, Faculty of Science, UNSW, Sydney, New South Wales, Australia. [13]
DOI 10.1002/humu.24240
PMID 34101287
发布时间 2022-12-07
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