换一批Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
第一作者：
Lot,Snijders Blok
第一单位：
Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
作者：
Lot,Snijders Blok [1]
;
Erik,Madsen [2]
;
Jane,Juusola [3]
;
Christian,Gilissen [1]
;
Diana,Baralle [4]
;
Margot R F,Reijnders [1]
;
Hanka,Venselaar [5]
;
Céline,Helsmoortel [6]
;
Megan T,Cho [3]
;
Alexander,Hoischen [1]
;
Lisenka E L M,Vissers [1]
;
Tom S,Koemans [1]
;
Willemijn,Wissink-Lindhout [1]
;
Evan E,Eichler [7]
;
Corrado,Romano [8]
;
Hilde,Van Esch [9]
;
Connie,Stumpel [10]
;
Maaike,Vreeburg [10]
;
Eric,Smeets [10]
;
Karin,Oberndorff [11]
;
Bregje W M,van Bon [12]
;
Marie,Shaw [13]
;
Jozef,Gecz [13]
;
Eric,Haan [14]
;
Melanie,Bienek [15]
;
Corinna,Jensen [15]
;
Bart L,Loeys [6]
;
Anke,Van Dijck [6]
;
A Micheil,Innes [16]
;
Hilary,Racher [16]
;
Sascha,Vermeer [17]
;
Nataliya,Di Donato [18]
;
Andreas,Rump [18]
;
Katrina,Tatton-Brown [19]
;
Michael J,Parker [20]
;
Alex,Henderson [21]
;
Sally A,Lynch [22]
;
Alan,Fryer [23]
;
Alison,Ross [24]
;
Pradeep,Vasudevan [25]
;
Usha,Kini [26]
;
Ruth,Newbury-Ecob [27]
;
Kate,Chandler [28]
;
Alison,Male [29]
;
DDD Study [30]
;
Sybe,Dijkstra [31]
;
Jolanda,Schieving [32]
;
Jacques,Giltay [32]
;
Koen L I,van Gassen [1]
;
Janneke,Schuurs-Hoeijmakers [2]
;
Perciliz L,Tan [2]
;
Igor,Pediaditakis [33]
;
Stefan A,Haas [3]
;
Kyle,Retterer [3]
;
Patrick,Reed [3]
;
Kristin G,Monaghan [3]
;
Eden,Haverfield [34]
;
Marvin,Natowicz [35]
;
Angela,Myers [36]
;
Michael C,Kruer [37]
;
Quinn,Stein [38]
;
Kevin A,Strauss [38]
;
Karlla W,Brigatti [39]
;
Katherine,Keating [39]
;
Barbara K,Burton [39]
;
Katherine H,Kim [39]
;
Joel,Charrow [40]
;
Jennifer,Norman [41]
;
Audrey,Foster-Barber [42]
;
Antonie D,Kline [42]
;
Amy,Kimball [43]
;
Elaine,Zackai [43]
;
Margaret,Harr [44]
;
Joyce,Fox [44]
;
Julie,McLaughlin [45]
;
Kristin,Lindstrom [46]
;
Katrina M,Haude [10]
;
Kees,van Roozendaal [47]
;
Han,Brunner [48]
;
Wendy K,Chung [6]
;
R Frank,Kooy [1]
;
Rolph,Pfundt [15]
;
Vera,Kalscheuer [49]
;
Sarju G,Mehta [50]
;
Nicholas,Katsanis [51]
;
Tjitske,Kleefstra
作者单位：
Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
[1]
Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA.
[2]
GeneDx, Gaithersburg, MD 20877, USA.
[3]
Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK.
[4]
Nijmegen Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
[5]
Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, 2650 Antwerp, Belgium.
[6]
Department of Genome Sciences, University of Washington, Seattle, WA 98195-5065, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA.
[7]
Pediatrics and Medical Genetics, IRCCS Associazione Oasi Maria Santissima, 94018 Troina, Italy.
[8]
Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.
[9]
Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht UMC+, 6202 AZ Maastricht, the Netherlands.
[10]
Department of Pediatrics, Atrium-Orbis Medical Center, 6162 BG Sittard, the Netherlands.
[11]
Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5006, Australia.
[12]
School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5006, Australia.
[13]
School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5006, Australia; South Australian Clinical Genetics Service, SA Pathology, Adelaide, SA 5006, Australia.
[14]
Department of Human Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
[15]
Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.
[16]
Department of Genetics, University Medical Center Groningen, 9700 RB Groningen, the Netherlands.
[17]
Faculty of Medicine, Carl Gustav Carus TU Dresden, 01307 Dresden, Germany.
[18]
St George's University of London, London SW17 0RE, UK.
[19]
Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK.
[20]
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.
[21]
National Centre for Medical Genetics, Temple Street Children's Hospital, Crumlin, Dublin 12, Ireland.
[22]
Department of Clinical Genetics, Liverpool Women's Hospital and Alder Hey Children's Hospital, Liverpool L8 7SS, UK.
[23]
North of Scotland Regional Genetics Service, Clinical Genetics Centre, Aberdeen AB25 2ZA, UK.
[24]
Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester LE1 5WW, UK.
[25]
Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford OX3 7LE, UK.
[26]
Department of Clinical Genetics, University Hospitals, Bristol BS1 3NU, UK.
[27]
Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK.
[28]
North East Thames Regional Genetics Service, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK.
[29]
ORO, Organisation for People with Intellectual Disabilities, 5751 PH Deurne, the Netherlands.
[30]
Department of Child Neurology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
[31]
Department of Medical Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands.
[32]
Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
[33]
Pathology & Laboratory Medicine and Genomic Medicine Institutes, Cleveland Clinic, Cleveland, OH 44195, USA.
[34]
Sanford Children's Specialty Clinic, Sioux Falls, SD 57105, USA.
[35]
Sanford Children's Specialty Clinic, Sioux Falls, SD 57105, USA; Barrow Neurological Institute and Ronald A. Matricaria Institute of Molecular Medicine, Phoenix Children's Hospital, Phoenix, AZ 57117, USA.
[36]
Barrow Neurological Institute and Ronald A. Matricaria Institute of Molecular Medicine, Phoenix Children's Hospital, Phoenix, AZ 57117, USA.
[37]
Clinic for Special Children, Franklin & Marshall College, Pennsylvania, PA 17579, USA.
[38]
Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
[39]
Integris Pediatric Neurology, Oklahoma City, OK 73112, USA.
[40]
Child Neurology and Palliative Care, Benioff Children's Hospital, San Francisco, CA 94925, USA.
[41]
The Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD 21204, USA.
[42]
Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
[43]
Division of Medical Genetics, Cohen Children's Medical Center, New Hyde Park, NY 11040, USA.
[44]
Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85006, USA.
[45]
University of Rochester Medical Center, Rochester, NY 14642, USA.
[46]
Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht UMC+, 6202 AZ Maastricht, the Netherlands.
[47]
Departments of Pediatrics & Medicine, Columbia University Medical Center, New York, NY 10032, USA.
[48]
East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
[49]
Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA. Electronic address: nicholas.katsanis@duke.edu.
[50]
Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: tjitske.kleefstra@radboudumc.nl.
[51]
医学主题词
氨基酸取代(Amino Acid Substitution);动物(Animals);碱基序列(Base Sequence);DEAD-box RNA解旋酶类(DEAD-box RNA Helicases);胚胎, 非哺乳动物(Embryo, Nonmammalian);女(雌)性(Female);基因剂量(Gene Dosage);人类(Humans);男(雄)性(Male);分子序列数据(Molecular Sequence Data);突变, 误义(Mutation, Missense);表型(Phenotype);序列分析, DNA(Sequence Analysis, DNA);性征(Sex Characteristics);斑马鱼(Zebrafish)
DOI
10.1016/j.ajhg.2015.07.004
PMID
26235985
发布时间
2022-03-21
- 浏览27
American journal of human genetics
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