换一批
换一批Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
作者：
Adam M,Bournazos [1]
;
Lisa G,Riley [2]
;
Shobhana,Bommireddipalli [3]
;
Lesley,Ades [4]
;
Lauren S,Akesson [5]
;
Mohammad,Al-Shinnag [6]
;
Stephen I,Alexander [7]
;
Alison D,Archibald [8]
;
Shanti,Balasubramaniam [9]
;
Yemima,Berman [10]
;
Victoria,Beshay [11]
;
Kirsten,Boggs [12]
;
Jasmina,Bojadzieva [13]
;
Natasha J,Brown [8]
;
Samantha J,Bryen [1]
;
Michael F,Buckley [14]
;
Belinda,Chong [15]
;
Mark R,Davis [16]
;
Ruebena,Dawes [1]
;
Martin,Delatycki [8]
;
Liz,Donaldson [17]
;
Lilian,Downie [18]
;
Caitlin,Edwards [16]
;
Matthew,Edwards [19]
;
Amanda,Engel [20]
;
Lisa J,Ewans [21]
;
Fathimath,Faiz [16]
;
Andrew,Fennell [22]
;
Michael,Field [23]
;
Mary-Louise,Freckmann [24]
;
Lyndon,Gallacher [8]
;
Russell,Gear [15]
;
Himanshu,Goel [25]
;
Shuxiang,Goh [26]
;
Linda,Goodwin [27]
;
Bernadette,Hanna [28]
;
James,Harraway [29]
;
Megan,Higgins [30]
;
Gladys,Ho [31]
;
Bruce K,Hopper [32]
;
Ari E,Horton [33]
;
Matthew F,Hunter [34]
;
Aamira J,Huq [35]
;
Sarah,Josephi-Taylor [36]
;
Himanshu,Joshi [3]
;
Edwin,Kirk [37]
;
Emma,Krzesinski [34]
;
Kishore R,Kumar [38]
;
Frances,Lemckert [1]
;
Richard J,Leventer [39]
;
Suzanna E,Lindsey-Temple [40]
;
Sebastian,Lunke [41]
;
Alan,Ma [4]
;
Steven,Macaskill [11]
;
Amali,Mallawaarachchi [42]
;
Melanie,Marty [15]
;
Justine E,Marum [15]
;
Hugh J,McCarthy [7]
;
Manoj P,Menezes [43]
;
Alison,McLean [26]
;
Di,Milnes [30]
;
Shekeeb,Mohammad [43]
;
David,Mowat [44]
;
Aram,Niaz [45]
;
Elizabeth E,Palmer [44]
;
Chirag,Patel [30]
;
Shilpan G,Patel [46]
;
Dean,Phelan [15]
;
Jason R,Pinner [44]
;
Sulekha,Rajagopalan [26]
;
Matthew,Regan [34]
;
Jonathan,Rodgers [30]
;
Miriam,Rodrigues [47]
;
Richard H,Roxburgh [47]
;
Rani,Sachdev [48]
;
Tony,Roscioli [49]
;
Ruvishani,Samarasekera [50]
;
Sarah A,Sandaradura [51]
;
Elena,Savva [15]
;
Tim,Schindler [52]
;
Margit,Shah [50]
;
Ingrid B,Sinnerbrink [53]
;
Janine M,Smith [54]
;
Richard J,Smith [55]
;
Amanda,Springer [56]
;
Zornitza,Stark [8]
;
Samuel P,Strom [57]
;
Carolyn M,Sue [58]
;
Kenneth,Tan [59]
;
Tiong Y,Tan [8]
;
Esther,Tantsis [43]
;
Michel C,Tchan [60]
;
Bryony A,Thompson [61]
;
Alison H,Trainer [62]
;
Karin,van Spaendonck-Zwarts [30]
;
Rebecca,Walsh [14]
;
Linda,Warwick [20]
;
Stephanie,White [63]
;
Susan M,White [8]
;
Mark G,Williams [64]
;
Meredith J,Wilson [54]
;
Wui Kwan,Wong [65]
;
Dale C,Wright [66]
;
Patrick,Yap [67]
;
Alison,Yeung [8]
;
Helen,Young [68]
;
Kristi J,Jones [51]
;
Bruce,Bennetts [31]
;
Sandra T,Cooper [69]
;
Australasian Consortium for RNA Diagnostics
作者单位：
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.
[1]
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.
[2]
Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
[3]
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.
[4]
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.
[5]
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia; The University of Queensland, Herston, Queensland, Australia.
[6]
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.
[7]
Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
[8]
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.
[9]
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.
[10]
Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
[11]
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.
[12]
Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia.
[13]
NSW Health Pathology, Randwick, New South Wales, Australia.
[14]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
[15]
Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
[16]
The Royal Melbourne Hospital, Parkville, Victoria, Australia.
[17]
Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; The Royal Melbourne Hospital, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia.
[18]
Department of Paediatrics, School of Medicine, Western Sydney University, Penrith South, New South Wales, Australia.
[19]
ACT Genetic Service, ACT Health, The Canberra Hospital, Garran, ACT, Australia.
[20]
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.
[21]
Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Monash Genetics, Monash Health, Clayton, Victoria, Australia.
[22]
Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia.
[23]
Department of Clinical Genetics, The Canberra Hospital, Garran, ACT, Australia.
[24]
Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia; The University of Newcastle, Callaghan, New South Wales, Australia.
[25]
Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia.
[26]
Department of Clinical Genetics, Nepean Hospital, Kingswood, New South Wales, Australia.
[27]
Department of Genomic Medicine, Westmead Hospital, Westmead, New South Wales, Australia.
[28]
Sullivan Nicolaides Pathology, Bowen Hills, Queensland, Australia.
[29]
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia.
[30]
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.
[31]
Forster Genetics, Forster, New South Wales, Australia.
[32]
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.
[33]
Monash Genetics, Monash Health, Clayton, Victoria, Australia; Department of Paediatrics, Monash University, Clayton, Victoria, Australia.
[34]
Department of Medicine, University of Melbourne, Parkville, Victoria, Australia; The Royal Melbourne Hospital, Parkville, Victoria, Australia.
[35]
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.
[36]
NSW Health Pathology, Randwick, New South Wales, Australia; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.
[37]
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.
[38]
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.
[39]
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.
[40]
Department of Pathology, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
[41]
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.
[42]
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.
[43]
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.
[44]
Rare Diseases Functional Genomics, Kids Research, Sydney Children's Hospital Network and Children's Medical Research Institute, Westmead, New South Wales, Australia.
[45]
School of Medicine, The University of Auckland, Auckland, New Zealand.
[46]
Department of Neurology, Auckland City Hospital, Auckland, New Zealand.
[47]
Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.
[48]
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.
[49]
Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
[50]
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.
[51]
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.
[52]
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.
[53]
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.
[54]
Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, United States.
[55]
Department of Paediatrics, Monash University, Clayton, Victoria, Australia.
[56]
Fulgent Genetics, Temple City, CA.
[57]
Department of Neurogenetics, Kolling Institute, Faculty of Medicine and Health, University of Sydney, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
[58]
Department of Paediatrics, Monash University, Clayton, Victoria, Australia; Monash Newborn, Monash Children's Hospital, Clayton, Victoria, Australia.
[59]
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.
[60]
Department of Pathology, The Royal Melbourne Hospital, Parkville, Victoria, Australia; Department of Clinical Pathology, University of Melbourne, Parkville, Victoria, Australia.
[61]
Department of Medicine, University of Melbourne, Parkville, Victoria, Australia; Department of Genomic Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia.
[62]
Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
[63]
Mater Research Institute, The University of Queensland, South Brisbane, Queensland, Australia.
[64]
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.
[65]
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.
[66]
Northern Hub, Genetic Health Service NZ, Auckland, New Zealand.
[67]
Department of Intensive Care, Austin Hospital, Heidelberg, Victoria, Australia.
[68]
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.
[69]
主题词
青少年(Adolescent);成年人(Adult);儿童, 学龄前(Child, Preschool);人类(Humans);突变(Mutation);RNA(RNA);RNA剪接(RNA Splicing);序列分析, RNA(Sequence Analysis, RNA)
DOI
10.1016/j.gim.2021.09.001
PMID
34906502
发布时间
2022-12-07
- 浏览3
Genetics in medicine
Genetics in medicine
130-145页
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