Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
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| Title: | Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants. |
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| Authors: | Bournazos AM; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Riley LG; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Rare Diseases Functional Genomics, Kids Research, Sydney Children's Hospital Network and Children's Medical Research Institute, Westmead, New South Wales, Australia., Bommireddipalli S; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Ades L; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Akesson LS; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Department of Medicine, University of Melbourne, Parkville, Victoria, Australia; Department of Pathology, University of Melbourne, Parkville, Victoria, Australia; Department of Genomic Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Al-Shinnag M; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia; The University of Queensland, Herston, Queensland, Australia., Alexander SI; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Pediatric Nephrology, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Archibald AD; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Balasubramaniam S; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Western Sydney Genetics Program, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Berman Y; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia; Northern Clinical School, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Beshay V; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Boggs K; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Australian Genomics Health Alliance, Parkville, Victoria, Australia; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia., Bojadzieva J; Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia., Brown NJ; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Bryen SJ; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Buckley MF; NSW Health Pathology, Randwick, New South Wales, Australia., Chong B; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia., Dawes R; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Delatycki M; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Donaldson L; The Royal Melbourne Hospital, Parkville, Victoria, Australia., Downie L; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; The Royal Melbourne Hospital, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Edwards C; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia., Edwards M; Department of Paediatrics, School of Medicine, Western Sydney University, Penrith South, New South Wales, Australia., Engel A; ACT Genetic Service, ACT Health, The Canberra Hospital, Garran, ACT, Australia., Ewans LJ; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia; Central Clinical School, The University of Sydney, Camperdown, New South Wales, Australia., Faiz F; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia., Fennell A; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Monash Genetics, Monash Health, Clayton, Victoria, Australia., Field M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia., Freckmann ML; Department of Clinical Genetics, The Canberra Hospital, Garran, ACT, Australia., Gallacher L; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Gear R; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Goel H; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia; The University of Newcastle, Callaghan, New South Wales, Australia., Goh S; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia., Goodwin L; Department of Clinical Genetics, Nepean Hospital, Kingswood, New South Wales, Australia., Hanna B; Department of Genomic Medicine, Westmead Hospital, Westmead, New South Wales, Australia., Harraway J; Sullivan Nicolaides Pathology, Bowen Hills, Queensland, Australia., Higgins M; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Ho G; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Molecular Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Hopper BK; Forster Genetics, Forster, New South Wales, Australia., Horton AE; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Monash Heart and Monash Children's Hospital, Monash Health, Clayton, Victoria, Australia; Monash Cardiovascular Research Centre, Clayton, Victoria, Australia., Hunter MF; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Huq AJ; Department of Medicine, University of Melbourne, Parkville, Victoria, Australia; The Royal Melbourne Hospital, Parkville, Victoria, Australia., Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Genomic Medicine, Westmead Hospital, Westmead, New South Wales, Australia., Joshi H; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Kirk E; NSW Health Pathology, Randwick, New South Wales, Australia; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia., Krzesinski E; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Kumar KR; Department of Neurogenetics, Kolling Institute, Faculty of Medicine and Health, University of Sydney, Royal North Shore Hospital, St Leonards, New South Wales, Australia; Translational Genomics, Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, New South Wales, Australia., Lemckert F; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Leventer RJ; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia., Lindsey-Temple SE; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia., Lunke S; Department of Pathology, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Ma A; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Macaskill S; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Mallawaarachchi A; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia; Division of Genomics and Epigenetics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Marty M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Marum JE; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., McCarthy HJ; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Pediatric Nephrology, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Menezes MP; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., McLean A; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia., Milnes D; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Mohammad S; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Mowat D; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia., Niaz A; Rare Diseases Functional Genomics, Kids Research, Sydney Children's Hospital Network and Children's Medical Research Institute, Westmead, New South Wales, Australia., Palmer EE; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Patel SG; School of Medicine, The University of Auckland, Auckland, New Zealand., Phelan D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Pinner JR; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia., Rajagopalan S; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia., Regan M; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Rodgers J; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Rodrigues M; Department of Neurology, Auckland City Hospital, Auckland, New Zealand., Roxburgh RH; Department of Neurology, Auckland City Hospital, Auckland, New Zealand., Sachdev R; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia., Roscioli T; NSW Health Pathology, Randwick, New South Wales, Australia; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; Neuroscience Research Australia, University of New South Wales, Randwick, New South Wales, Australia., Samarasekera R; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Sandaradura SA; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Savva E; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Schindler T; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia; Newborn Care, Royal Hospital for Women, Randwick, New South Wales, Australia., Shah M; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Sinnerbrink IB; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, Nepean Hospital, Kingswood, New South Wales, Australia., Smith JM; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Smith RJ; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, United States., Springer A; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Stark Z; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Strom SP; Fulgent Genetics, Temple City, CA., Sue CM; Department of Neurogenetics, Kolling Institute, Faculty of Medicine and Health, University of Sydney, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Tan K; Department of Paediatrics, Monash University, Clayton, Victoria, Australia; Monash Newborn, Monash Children's Hospital, Clayton, Victoria, Australia., Tan TY; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Tantsis E; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Tchan MC; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Genomic Medicine, Westmead Hospital, Westmead, New South Wales, Australia., Thompson BA; Department of Pathology, The Royal Melbourne Hospital, Parkville, Victoria, Australia; Department of Clinical Pathology, University of Melbourne, Parkville, Victoria, Australia., Trainer AH; Department of Medicine, University of Melbourne, Parkville, Victoria, Australia; Department of Genomic Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia., van Spaendonck-Zwarts K; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Walsh R; NSW Health Pathology, Randwick, New South Wales, Australia., Warwick L; ACT Genetic Service, ACT Health, The Canberra Hospital, Garran, ACT, Australia., White S; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia., White SM; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Williams MG; Mater Research Institute, The University of Queensland, South Brisbane, Queensland, Australia., Wilson MJ; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Wong WK; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Wright DC; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Cytogenetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Yap P; Northern Hub, Genetic Health Service NZ, Auckland, New Zealand., Yeung A; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Young H; Department of Intensive Care, Austin Hospital, Heidelberg, Victoria, Australia., Jones KJ; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Bennetts B; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Molecular Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Cooper ST; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The Children's Medical Research Institute, Westmead, New South Wales, Australia. Electronic address: sandra.cooper@sydney.edu.au. |
| Corporate Authors: | Australasian Consortium for RNA Diagnostics |
| Source: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jan; Vol. 24 (1), pp. 130-145. Date of Electronic Publication: 2021 Nov 30. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| 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: 34906502 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Bournazos+AM%22">Bournazos AM</searchLink>; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Riley+LG%22">Riley LG</searchLink>; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Rare Diseases Functional Genomics, Kids Research, Sydney Children's Hospital Network and Children's Medical Research Institute, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Bommireddipalli+S%22">Bommireddipalli S</searchLink>; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Ades+L%22">Ades L</searchLink>; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Akesson+LS%22">Akesson LS</searchLink>; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Department of Medicine, University of Melbourne, Parkville, Victoria, Australia; Department of Pathology, University of Melbourne, Parkville, Victoria, Australia; Department of Genomic Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Al-Shinnag+M%22">Al-Shinnag M</searchLink>; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia; The University of Queensland, Herston, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Alexander+SI%22">Alexander SI</searchLink>; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Pediatric Nephrology, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Archibald+AD%22">Archibald AD</searchLink>; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Balasubramaniam+S%22">Balasubramaniam S</searchLink>; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Western Sydney Genetics Program, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Berman+Y%22">Berman Y</searchLink>; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia; Northern Clinical School, Royal North Shore Hospital, St Leonards, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Beshay+V%22">Beshay V</searchLink>; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Boggs+K%22">Boggs K</searchLink>; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Australian Genomics Health Alliance, Parkville, Victoria, Australia; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Bojadzieva+J%22">Bojadzieva J</searchLink>; Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Brown+NJ%22">Brown NJ</searchLink>; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Bryen+SJ%22">Bryen SJ</searchLink>; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Buckley+MF%22">Buckley MF</searchLink>; NSW Health Pathology, Randwick, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Chong+B%22">Chong B</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Davis+MR%22">Davis MR</searchLink>; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Dawes+R%22">Dawes R</searchLink>; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Delatycki+M%22">Delatycki M</searchLink>; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Donaldson+L%22">Donaldson L</searchLink>; The Royal Melbourne Hospital, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Downie+L%22">Downie L</searchLink>; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; The Royal Melbourne Hospital, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Edwards+C%22">Edwards C</searchLink>; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Edwards+M%22">Edwards M</searchLink>; Department of Paediatrics, School of Medicine, Western Sydney University, Penrith South, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Engel+A%22">Engel A</searchLink>; ACT Genetic Service, ACT Health, The Canberra Hospital, Garran, ACT, Australia.<br /><searchLink fieldCode="AU" term="%22Ewans+LJ%22">Ewans LJ</searchLink>; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia; Central Clinical School, The University of Sydney, Camperdown, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Faiz+F%22">Faiz F</searchLink>; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Fennell+A%22">Fennell A</searchLink>; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Monash Genetics, Monash Health, Clayton, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Field+M%22">Field M</searchLink>; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Freckmann+ML%22">Freckmann ML</searchLink>; Department of Clinical Genetics, The Canberra Hospital, Garran, ACT, Australia.<br /><searchLink fieldCode="AU" term="%22Gallacher+L%22">Gallacher L</searchLink>; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Gear+R%22">Gear R</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Goel+H%22">Goel H</searchLink>; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia; The University of Newcastle, Callaghan, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Goh+S%22">Goh S</searchLink>; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Goodwin+L%22">Goodwin L</searchLink>; Department of Clinical Genetics, Nepean Hospital, Kingswood, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Hanna+B%22">Hanna B</searchLink>; Department of Genomic Medicine, Westmead Hospital, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Harraway+J%22">Harraway J</searchLink>; Sullivan Nicolaides Pathology, Bowen Hills, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Higgins+M%22">Higgins M</searchLink>; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Ho+G%22">Ho G</searchLink>; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Molecular Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Hopper+BK%22">Hopper BK</searchLink>; Forster Genetics, Forster, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Horton+AE%22">Horton AE</searchLink>; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Monash Heart and Monash Children's Hospital, Monash Health, Clayton, Victoria, Australia; Monash Cardiovascular Research Centre, Clayton, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Hunter+MF%22">Hunter MF</searchLink>; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Department of Paediatrics, Monash University, Clayton, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Huq+AJ%22">Huq AJ</searchLink>; Department of Medicine, University of Melbourne, Parkville, Victoria, Australia; The Royal Melbourne Hospital, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Josephi-Taylor+S%22">Josephi-Taylor S</searchLink>; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Genomic Medicine, Westmead Hospital, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Joshi+H%22">Joshi H</searchLink>; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Kirk+E%22">Kirk E</searchLink>; NSW Health Pathology, Randwick, New South Wales, Australia; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Krzesinski+E%22">Krzesinski E</searchLink>; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Department of Paediatrics, Monash University, Clayton, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Kumar+KR%22">Kumar KR</searchLink>; Department of Neurogenetics, Kolling Institute, Faculty of Medicine and Health, University of Sydney, Royal North Shore Hospital, St Leonards, New South Wales, Australia; Translational Genomics, Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Lemckert+F%22">Lemckert F</searchLink>; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Leventer+RJ%22">Leventer RJ</searchLink>; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Lindsey-Temple+SE%22">Lindsey-Temple SE</searchLink>; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Lunke+S%22">Lunke S</searchLink>; Department of Pathology, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Ma+A%22">Ma A</searchLink>; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Macaskill+S%22">Macaskill S</searchLink>; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Mallawaarachchi+A%22">Mallawaarachchi A</searchLink>; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia; Division of Genomics and Epigenetics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Marty+M%22">Marty M</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Marum+JE%22">Marum JE</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22McCarthy+HJ%22">McCarthy HJ</searchLink>; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Pediatric Nephrology, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Menezes+MP%22">Menezes MP</searchLink>; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22McLean+A%22">McLean A</searchLink>; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Milnes+D%22">Milnes D</searchLink>; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Mohammad+S%22">Mohammad S</searchLink>; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Mowat+D%22">Mowat D</searchLink>; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Niaz+A%22">Niaz A</searchLink>; Rare Diseases Functional Genomics, Kids Research, Sydney Children's Hospital Network and Children's Medical Research Institute, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Palmer+EE%22">Palmer EE</searchLink>; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Patel+C%22">Patel C</searchLink>; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Patel+SG%22">Patel SG</searchLink>; School of Medicine, The University of Auckland, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22Phelan+D%22">Phelan D</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Pinner+JR%22">Pinner JR</searchLink>; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Rajagopalan+S%22">Rajagopalan S</searchLink>; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Regan+M%22">Regan M</searchLink>; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Department of Paediatrics, Monash University, Clayton, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Rodgers+J%22">Rodgers J</searchLink>; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Rodrigues+M%22">Rodrigues M</searchLink>; Department of Neurology, Auckland City Hospital, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22Roxburgh+RH%22">Roxburgh RH</searchLink>; Department of Neurology, Auckland City Hospital, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22Sachdev+R%22">Sachdev R</searchLink>; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Roscioli+T%22">Roscioli T</searchLink>; NSW Health Pathology, Randwick, New South Wales, Australia; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; Neuroscience Research Australia, University of New South Wales, Randwick, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Samarasekera+R%22">Samarasekera R</searchLink>; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Sandaradura+SA%22">Sandaradura SA</searchLink>; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Savva+E%22">Savva E</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Schindler+T%22">Schindler T</searchLink>; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia; Newborn Care, Royal Hospital for Women, Randwick, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Shah+M%22">Shah M</searchLink>; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Sinnerbrink+IB%22">Sinnerbrink IB</searchLink>; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, Nepean Hospital, Kingswood, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Smith+JM%22">Smith JM</searchLink>; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Smith+RJ%22">Smith RJ</searchLink>; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, United States.<br /><searchLink fieldCode="AU" term="%22Springer+A%22">Springer A</searchLink>; Department of Paediatrics, Monash University, Clayton, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Stark+Z%22">Stark Z</searchLink>; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Strom+SP%22">Strom SP</searchLink>; Fulgent Genetics, Temple City, CA.<br /><searchLink fieldCode="AU" term="%22Sue+CM%22">Sue CM</searchLink>; Department of Neurogenetics, Kolling Institute, Faculty of Medicine and Health, University of Sydney, Royal North Shore Hospital, St Leonards, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Tan+K%22">Tan K</searchLink>; Department of Paediatrics, Monash University, Clayton, Victoria, Australia; Monash Newborn, Monash Children's Hospital, Clayton, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Tan+TY%22">Tan TY</searchLink>; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Tantsis+E%22">Tantsis E</searchLink>; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Tchan+MC%22">Tchan MC</searchLink>; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Genomic Medicine, Westmead Hospital, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Thompson+BA%22">Thompson BA</searchLink>; Department of Pathology, The Royal Melbourne Hospital, Parkville, Victoria, Australia; Department of Clinical Pathology, University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Trainer+AH%22">Trainer AH</searchLink>; Department of Medicine, University of Melbourne, Parkville, Victoria, Australia; Department of Genomic Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22van+Spaendonck-Zwarts+K%22">van Spaendonck-Zwarts K</searchLink>; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Walsh+R%22">Walsh R</searchLink>; NSW Health Pathology, Randwick, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Warwick+L%22">Warwick L</searchLink>; ACT Genetic Service, ACT Health, The Canberra Hospital, Garran, ACT, Australia.<br /><searchLink fieldCode="AU" term="%22White+S%22">White S</searchLink>; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22White+SM%22">White SM</searchLink>; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Williams+MG%22">Williams MG</searchLink>; Mater Research Institute, The University of Queensland, South Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Wilson+MJ%22">Wilson MJ</searchLink>; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Wong+WK%22">Wong WK</searchLink>; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Wright+DC%22">Wright DC</searchLink>; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Cytogenetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Yap+P%22">Yap P</searchLink>; Northern Hub, Genetic Health Service NZ, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22Yeung+A%22">Yeung A</searchLink>; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Young+H%22">Young H</searchLink>; Department of Intensive Care, Austin Hospital, Heidelberg, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Jones+KJ%22">Jones KJ</searchLink>; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Bennetts+B%22">Bennetts B</searchLink>; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Molecular Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Cooper+ST%22">Cooper ST</searchLink>; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The Children's Medical Research Institute, Westmead, New South Wales, Australia. Electronic address: sandra.cooper@sydney.edu.au. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22Australasian+Consortium+for+RNA+Diagnostics%22">Australasian Consortium for RNA Diagnostics</searchLink> – 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] 2022 Jan; Vol. 24 (1), pp. 130-145. <i>Date of Electronic Publication: </i>2021 Nov 30. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – 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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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.gim.2021.09.001 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 130 Titles: – TitleFull: Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants. 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