Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
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| Title: | Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort. |
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| Authors: | Dias KR; Neuroscience Research Australia, Sydney, NSW, Australia; Prince of Wales Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia., Shrestha R; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia., Schofield D; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia., Evans CA; Neuroscience Research Australia, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., O'Heir E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Zhu Y; Neuroscience Research Australia, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia; The Genetics of Learning Disability Service, Waratah, NSW, Australia., Zhang F; Neuroscience Research Australia, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Standen K; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Stenton SL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Sanchis-Juan A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Brand H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Ma A; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Specialty of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Ghedia S; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia; Northern Clinical School, Royal North Shore Hospital, Sydney, NSW, Australia., Wilson M; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Sandaradura SA; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Disciplines of Child and Adolescent Health and Genetic Medicine, University of Sydney, Sydney, NSW 2050, Australia., Smith J; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Specialty of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Kamien B; Genetic Services of Western Australia, Perth, WA, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia., Turner A; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia., Bakshi M; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia., Adès LC; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Disciplines of Child and Adolescent Health and Genetic Medicine, University of Sydney, Sydney, NSW 2050, Australia., Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Discipline of Paediatrics & Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia., Regan M; Monash Genetics, Monash Health, Melbourne, VIC, Australia., McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Savarirayan R; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Australian Genomics, Melbourne, VIC, Australia., Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Pérez-Jurado LA; Genetics Unit, Universitat Pompeu Fabra, Institut Hospital del Mar d'Investigacions Mediques (IMIM), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain; Women's and Children's Hospital, South Australian Health and Medical Research Institute & University of Adelaide, Adelaide, SA, Australia., Krzesinski E; Monash Genetics, Monash Health, Melbourne, VIC, Australia; Department of Paediatrics, Monash University, Melbourne, VIC, Australia., Hunter MF; Monash Genetics, Monash Health, Melbourne, VIC, Australia; Department of Paediatrics, Monash University, Melbourne, VIC, Australia., Akesson L; Melbourne Pathology, Melbourne, VIC, Australia; Department of Pathology, The Royal Melbourne Hospital, Melbourne, VIC, Australia; Melbourne Medical School, University of Melbourne, Melbourne, VIC, Australia., Fennell AP; Monash Genetics, Monash Health, Melbourne, VIC, Australia; Department of Paediatrics, Monash University, Melbourne, VIC, Australia., Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Boughtwood T; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Australian Genomics, Melbourne, VIC, Australia., Ewans LJ; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Discipline of Paediatrics & Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia., Kerkhof J; Verspeeten Clinical Genome Centre London Health Sciences Centre, London, ON, Canada., Lucas C; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Carey L; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., French H; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia., Rapadas M; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Stevanovski I; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia., Cliffe C; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Elakis G; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Kirk EP; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Discipline of Paediatrics & Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia., Dudding-Byth T; The Genetics of Learning Disability Service, Waratah, NSW, Australia., Fletcher J; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Walsh R; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Corbett MA; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia., Kroes T; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia., Gecz J; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia; South Australian Health and Medical Research Institute, Adelaide, SA, Australia., Meldrum C; State Wide Service, New South Wales Health Pathology, Sydney, NSW, Australia., Cliffe S; State Wide Service, New South Wales Health Pathology, Sydney, NSW, Australia., Wall M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., North K; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Australian Genomics, Melbourne, VIC, Australia; Global Alliance for Genomics and Health, Toronto, ON, Canada., Amor DJ; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Field M; The Genetics of Learning Disability Service, Waratah, NSW, Australia., Sadikovic B; Verspeeten Clinical Genome Centre London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Buckley MF; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Roscioli T; Neuroscience Research Australia, Sydney, NSW, Australia; Prince of Wales Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia. Electronic address: tony.roscioli@health.nsw.gov.au. |
| Source: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 May; Vol. 26 (5), pp. 101076. Date of Electronic Publication: 2024 Jan 19. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 38258669 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Dias+KR%22">Dias KR</searchLink>; Neuroscience Research Australia, Sydney, NSW, Australia; Prince of Wales Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Shrestha+R%22">Shrestha R</searchLink>; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Schofield+D%22">Schofield D</searchLink>; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Evans+CA%22">Evans CA</searchLink>; Neuroscience Research Australia, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22O'Heir+E%22">O'Heir E</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Zhu+Y%22">Zhu Y</searchLink>; Neuroscience Research Australia, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia; The Genetics of Learning Disability Service, Waratah, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Zhang+F%22">Zhang F</searchLink>; Neuroscience Research Australia, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Standen+K%22">Standen K</searchLink>; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Weisburd+B%22">Weisburd B</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Stenton+SL%22">Stenton SL</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Sanchis-Juan+A%22">Sanchis-Juan A</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Brand+H%22">Brand H</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Talkowski+ME%22">Talkowski ME</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Ma+A%22">Ma A</searchLink>; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Specialty of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Ghedia+S%22">Ghedia S</searchLink>; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia; Northern Clinical School, Royal North Shore Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Wilson+M%22">Wilson M</searchLink>; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Sandaradura+SA%22">Sandaradura SA</searchLink>; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Disciplines of Child and Adolescent Health and Genetic Medicine, University of Sydney, Sydney, NSW 2050, Australia.<br /><searchLink fieldCode="AU" term="%22Smith+J%22">Smith J</searchLink>; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Specialty of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Kamien+B%22">Kamien B</searchLink>; Genetic Services of Western Australia, Perth, WA, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.<br /><searchLink fieldCode="AU" term="%22Turner+A%22">Turner A</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Bakshi+M%22">Bakshi M</searchLink>; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Adès+LC%22">Adès LC</searchLink>; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia; Disciplines of Child and Adolescent Health and Genetic Medicine, University of Sydney, Sydney, NSW 2050, Australia.<br /><searchLink fieldCode="AU" term="%22Mowat+D%22">Mowat D</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Discipline of Paediatrics & Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Regan+M%22">Regan M</searchLink>; Monash Genetics, Monash Health, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22McGillivray+G%22">McGillivray G</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Savarirayan+R%22">Savarirayan R</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22White+SM%22">White SM</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Tan+TY%22">Tan TY</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Stark+Z%22">Stark Z</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Australian Genomics, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Brown+NJ%22">Brown NJ</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Pérez-Jurado+LA%22">Pérez-Jurado LA</searchLink>; Genetics Unit, Universitat Pompeu Fabra, Institut Hospital del Mar d'Investigacions Mediques (IMIM), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain; Women's and Children's Hospital, South Australian Health and Medical Research Institute & University of Adelaide, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Krzesinski+E%22">Krzesinski E</searchLink>; Monash Genetics, Monash Health, Melbourne, VIC, Australia; Department of Paediatrics, Monash University, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Hunter+MF%22">Hunter MF</searchLink>; Monash Genetics, Monash Health, Melbourne, VIC, Australia; Department of Paediatrics, Monash University, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Akesson+L%22">Akesson L</searchLink>; Melbourne Pathology, Melbourne, VIC, Australia; Department of Pathology, The Royal Melbourne Hospital, Melbourne, VIC, Australia; Melbourne Medical School, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Fennell+AP%22">Fennell AP</searchLink>; Monash Genetics, Monash Health, Melbourne, VIC, Australia; Department of Paediatrics, Monash University, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Yeung+A%22">Yeung A</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Boughtwood+T%22">Boughtwood T</searchLink>; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Australian Genomics, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Ewans+LJ%22">Ewans LJ</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Discipline of Paediatrics & Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Kerkhof+J%22">Kerkhof J</searchLink>; Verspeeten Clinical Genome Centre London Health Sciences Centre, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Lucas+C%22">Lucas C</searchLink>; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Carey+L%22">Carey L</searchLink>; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22French+H%22">French H</searchLink>; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Rapadas+M%22">Rapadas M</searchLink>; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Stevanovski+I%22">Stevanovski I</searchLink>; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Deveson+IW%22">Deveson IW</searchLink>; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Cliffe+C%22">Cliffe C</searchLink>; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Elakis+G%22">Elakis G</searchLink>; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Kirk+EP%22">Kirk EP</searchLink>; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; Discipline of Paediatrics & Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Dudding-Byth+T%22">Dudding-Byth T</searchLink>; The Genetics of Learning Disability Service, Waratah, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Fletcher+J%22">Fletcher J</searchLink>; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Walsh+R%22">Walsh R</searchLink>; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Corbett+MA%22">Corbett MA</searchLink>; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Kroes+T%22">Kroes T</searchLink>; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Gecz+J%22">Gecz J</searchLink>; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia; South Australian Health and Medical Research Institute, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Meldrum+C%22">Meldrum C</searchLink>; State Wide Service, New South Wales Health Pathology, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Cliffe+S%22">Cliffe S</searchLink>; State Wide Service, New South Wales Health Pathology, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Wall+M%22">Wall M</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Lunke+S%22">Lunke S</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22North+K%22">North K</searchLink>; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Australian Genomics, Melbourne, VIC, Australia; Global Alliance for Genomics and Health, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Amor+DJ%22">Amor DJ</searchLink>; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Field+M%22">Field M</searchLink>; The Genetics of Learning Disability Service, Waratah, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Sadikovic+B%22">Sadikovic B</searchLink>; Verspeeten Clinical Genome Centre London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Buckley+MF%22">Buckley MF</searchLink>; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22O'Donnell-Luria+A%22">O'Donnell-Luria A</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Roscioli+T%22">Roscioli T</searchLink>; Neuroscience Research Australia, Sydney, NSW, Australia; Prince of Wales Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia. Electronic address: tony.roscioli@health.nsw.gov.au. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2024 May; Vol. 26 (5), pp. 101076. <i>Date of Electronic Publication: </i>2024 Jan 19. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE |
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