换一批
换一批Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
作者：
Joanna,Kennedy [1]
;
David,Goudie [2]
;
Edward,Blair [3]
;
Kate,Chandler [4]
;
Shelagh,Joss [5]
;
Victoria,McKay [6]
;
Andrew,Green [7]
;
Ruth,Armstrong [8]
;
Melissa,Lees [9]
;
Benjamin,Kamien [10]
;
Bruce,Hopper [11]
;
Tiong Yang,Tan [12]
;
Patrick,Yap [13]
;
Zornitza,Stark [13]
;
Nobuhiko,Okamoto [14]
;
Noriko,Miyake [15]
;
Naomichi,Matsumoto [14]
;
Ellen,Macnamara [16]
;
Jennifer L,Murphy [14]
;
Elizabeth,McCormick [17]
;
Hakon,Hakonarson [18]
;
Marni J,Falk [19]
;
Dong,Li [19]
;
Patrick,Blackburn [20]
;
Eric,Klee [20]
;
Dusica,Babovic-Vuksanovic [21]
;
Susan,Schelley [22]
;
Louanne,Hudgins [21]
;
Sarina,Kant [22]
;
Bertrand,Isidor [23]
;
Benjamin,Cogne [23]
;
Kimberley,Bradbury [24]
;
Mark,Williams [23]
;
Chirag,Patel [24]
;
Helen,Heussler [25]
;
Celia,Duff-Farrier [25]
;
Phillis,Lakeman [26]
;
Ingrid,Scurr [27]
;
Usha,Kini [27]
;
Mariet,Elting [28]
;
Margot,Reijnders [29]
;
Janneke,Schuurs-Hoeijmakers [30]
;
Mohamed,Wafik [31]
;
Anne,Blomhoff [32]
;
Claudia A L,Ruivenkamp [33]
;
Esther,Nibbeling [1]
;
Alexander J M,Dingemans [4]
;
Emilie D,Douine [5]
;
Stanley F,Nelson [34]
;
DDD Study [35]
;
Maja,Hempel [35]
;
Tatjana,Bierhals [4]
;
Davor,Lessel [5]
;
Jessika,Johannsen [36]
;
Valerie A,Arboleda [37]
;
Ruth,Newbury-Ecob [38]
作者单位：
Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK.
[1]
University of Bristol, Bristol, UK.
[2]
Clinical Genetics, Ninewells Hospital & Medical School, Dundee, UK.
[3]
Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
[4]
Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, UK.
[5]
Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester Foundation NHS Trust, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.
[6]
West of Scotland Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
[7]
Cheshire & Merseyside Regional Genetics Service, Liverpool Women's NHS Foundation Trust, Crown Street, Liverpool, UK.
[8]
Department of Clinical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
[9]
School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
[10]
East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, UK.
[11]
Clinical Genetics, Great Ormond Street Hospital NHS Trust, London, UK.
[12]
Hunter Genetics, Newcastle, Australia.
[13]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
[14]
Department of Paediatrics, University of Melbourne, Melbourne, Australia.
[15]
Genetic Health Service New Zealand, Auckland, New Zealand.
[16]
Department of Medical Genetics, Osaka Medical Center, Osaka, Japan.
[17]
Research Institute for Maternal and Child Health, Osaka Medical Center, Osaka, Japan.
[18]
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
[19]
National Human Genome Research Institute, NIH, Bethesda, MD, USA.
[20]
Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[21]
Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[22]
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
[23]
Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
[24]
Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.
[25]
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
[26]
Service de Génétique Médicale, CHU Nantes, Nantes, France.
[27]
Clinical Genetics Guys and St Thomas' NHS Foundation Trust, Guys Hospital, London, UK.
[28]
Molecular Diagnostics, Mater Group, South Brisbane, Queensland, Australia.
[29]
Genetic Health Queensland, Herston, Brisbane, Queensland, Australia.
[30]
Child Development Service, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
[31]
Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK.
[32]
Academic Medical Center, Department of Clinical Genetics, Amsterdam, The Netherlands.
[33]
Klinisch Geneticus, VU Medisch centrum, Amsterdam, The Netherlands.
[34]
Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.
[35]
Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
[36]
Klinische Genetica, Leiden University, Leiden, The Netherlands.
[37]
Department of Genetics, University of Groningen, Groningen, The Netherlands.
[38]
Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
[39]
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
[40]
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
[41]
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
[42]
Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. varboleda@mednet.ucla.edu.
[43]
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. varboleda@mednet.ucla.edu.
[44]
Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK. Ruth.Newbury-Ecob@UHBristol.nhs.uk.
[45]
University of Bristol, Bristol, UK. Ruth.Newbury-Ecob@UHBristol.nhs.uk.
[46]
DOI
10.1038/s41436-020-00944-7
PMID
32814847
发布时间
2022-02-10
- 浏览5
Genetics in medicine
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
