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Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

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第一作者: Lisa J,Ewans
第一单位: St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia. lisa.ewans@gmail.com.;Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. lisa.ewans@gmail.com.;Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia. lisa.ewans@gmail.com.
作者单位: St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia. lisa.ewans@gmail.com.;Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. lisa.ewans@gmail.com.;Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia. lisa.ewans@gmail.com. [1] St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia.;Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. [2] Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia. [3] Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. [4] The Genetics of Learning Disability Service, Newcastle, NSW, Australia.;Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia. [5] Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia. [6] Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.;Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia. [7] Clinical Genetics Department, Liverpool Hospital, Sydney, NSW, Australia. [8] Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.;Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia. [9] Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.;Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, UNSW, Sydney, Australia. [10] Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia. [11] Genetics Services, Nepean Hospital, Sydney, NSW, Australia. [12] The Genetics of Learning Disability Service, Newcastle, NSW, Australia. [13] Hunter Genetics, Newcastle, NSW, Australia. [14] Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.;Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.;School of Women's and Children's Health, University of New South Wales, Sydney, Australia. [15] Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.;Queensland Children's Hospital, Brisbane, QLD, Australia. [16] Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.;School of Women's and Children's Health, University of New South Wales, Sydney, Australia. [17] Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.;The Genetics of Learning Disability Service, Newcastle, NSW, Australia.;School of Women's and Children's Health, University of New South Wales, Sydney, Australia. [18] Northern Blood Research Centre, Kolling Institute of Medical Research, University of Sydney, Sydney, NSW, Australia.;Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, NSW, Australia. [19] Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. m.dinger@unsw.edu.au.;School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, Australia. m.dinger@unsw.edu.au. [20] Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia. tony.roscioli@health.nsw.gov.au.;Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia. tony.roscioli@health.nsw.gov.au.;Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, UNSW, Sydney, Australia. tony.roscioli@health.nsw.gov.au. [21]
DOI 10.1038/s41431-022-01162-2
PMID 35970915
发布时间 2022-12-14
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European journal of human genetics : EJHG

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