换一批
换一批De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
作者：
Margot R F,Reijnders [1]
;
Kerry A,Miller [2]
;
Mohsan,Alvi [3]
;
Jacqueline A C,Goos [4]
;
Melissa M,Lees [5]
;
Anna,de Burca [6]
;
Alex,Henderson [7]
;
Alison,Kraus [8]
;
Barbara,Mikat [9]
;
Bert B A,de Vries [1]
;
Bertrand,Isidor [10]
;
Bronwyn,Kerr [11]
;
Carlo,Marcelis [12]
;
Caroline,Schluth-Bolard [13]
;
Charu,Deshpande [14]
;
Claudia A L,Ruivenkamp [15]
;
Dagmar,Wieczorek [16]
;
Deciphering Developmental Disorders Study [17]
;
Diana,Baralle [18]
;
Edward M,Blair [6]
;
Hartmut,Engels [19]
;
Hermann-Josef,Lüdecke [16]
;
Jacqueline,Eason [20]
;
Gijs W E,Santen [15]
;
Jill,Clayton-Smith [11]
;
Kate,Chandler [11]
;
Katrina,Tatton-Brown [21]
;
Katelyn,Payne [22]
;
Katherine,Helbig [23]
;
Kelly,Radtke [23]
;
Kimberly M,Nugent [24]
;
Kirsten,Cremer [19]
;
Tim M,Strom [25]
;
Lynne M,Bird [26]
;
Margje,Sinnema [27]
;
Maria,Bitner-Glindzicz [28]
;
Marieke F,van Dooren [29]
;
Marielle,Alders [30]
;
Marije,Koopmans [31]
;
Lauren,Brick [32]
;
Mariya,Kozenko [32]
;
Megan L,Harline [33]
;
Merel,Klaassens [34]
;
Michelle,Steinraths [35]
;
Nicola S,Cooper [36]
;
Patrick,Edery [13]
;
Patrick,Yap [37]
;
Paulien A,Terhal [38]
;
Peter J,van der Spek [39]
;
Phillis,Lakeman [30]
;
Rachel L,Taylor [11]
;
Rebecca O,Littlejohn [24]
;
Rolph,Pfundt [1]
;
Saadet,Mercimek-Andrews [40]
;
Alexander P A,Stegmann [27]
;
Sarina G,Kant [15]
;
Scott,McLean [24]
;
Shelagh,Joss [41]
;
Sigrid M A,Swagemakers [39]
;
Sofia,Douzgou [11]
;
Steven A,Wall [42]
;
Sébastien,Küry [43]
;
Eduardo,Calpena [2]
;
Nils,Koelling [2]
;
Simon J,McGowan [44]
;
Stephen R F,Twigg [2]
;
Irene M J,Mathijssen [4]
;
Christoffer,Nellaker [45]
;
Han G,Brunner [46]
;
Andrew O M,Wilkie [47]
作者单位：
Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, 6500 HB, the Netherlands.
[1]
Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.
[2]
Visual Geometry Group, Department of Engineering Science, University of Oxford, Oxford OX1 2JD, UK.
[3]
Department of Plastic and Reconstructive Surgery, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA Rotterdam, the Netherlands.
[4]
Department of Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK.
[5]
Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK.
[6]
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.
[7]
Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds LS7 4SA, UK.
[8]
Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45147 Essen, Germany.
[9]
CHU de Nantes, Service de Génétique Médicale, Nantes 44093 Cedex 1, France; INSERM, UMR-S 957, 1 Rue Gaston Veil, Nantes 44035, France.
[10]
Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK.
[11]
Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
[12]
Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, 69500 Bron, France; INSERM U1028, CNRS UMR5292, UCB Lyon 1, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, 69500 Bron, France.
[13]
South East Thames Regional Genetics Service, Guy's Hospital, London SE1 9RT, UK.
[14]
Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands.
[15]
Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45147 Essen, Germany; Institute of Human Genetics, Heinrich-Heine-University, Medical Faculty, 40225 Düsseldorf, Germany.
[16]
Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.
[17]
Human Development and Health, Duthie Building, University of Southampton, Southampton SO16 6YD, UK; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK.
[18]
Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, 53127 Bonn, Germany.
[19]
Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Hucknall Road, Nottingham NG5 1PB, UK.
[20]
Southwest Thames Regional Genetics Centre, St George's University Hospitals NHS Foundation Trust, St George's University of London, London SW17 0RE, UK.
[21]
Riley Hospital for Children, Indianapolis, Indiana, IN 46202, USA.
[22]
Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.
[23]
Department of Pediatrics, Baylor College of Medicine, The Children's Hospital of San Antonio, San Antonio, TX 78207, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
[24]
Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
[25]
University of California, San Diego, Department of Pediatrics; Genetics and Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA 92123, USA.
[26]
Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, Maastricht 6229 ER, the Netherlands.
[27]
Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
[28]
Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 21455, 3001 AL Rotterdam, the Netherlands.
[29]
Department of Clinical Genetics, Academic Medical Center, PO Box 22660, 1100 DD Amsterdam, the Netherlands.
[30]
Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands.
[31]
Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, ON L8N 3Z5, Canada.
[32]
Department of Pediatrics, Baylor College of Medicine, The Children's Hospital of San Antonio, San Antonio, TX 78207, USA.
[33]
Department of Paediatrics, Maastricht University Medical Center, Maastricht 6229 ER, the Netherlands.
[34]
Department of Medical Genetics, University of British Columbia, Vancouver, BC V8Z 6R5, Canada.
[35]
West Midlands Regional Clinical Genetics Unit, Birmingham Women's & Children's NHS Foundation Trust, Mindelsohn Way, Birmingham B15 2TG, UK.
[36]
Genetic Health Service New Zealand, Auckland 1142, New Zealand; Victorian Clinical Genetic Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Auckland, Auckland 1142, New Zealand.
[37]
Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands.
[38]
Department of Pathology & Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA Rotterdam, the Netherlands.
[39]
Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada; Institute of Medical Sciences, University of Toronto, Toronto, ON M5G 1X8, Canada.
[40]
West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
[41]
Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK.
[42]
CHU de Nantes, Service de Génétique Médicale, 44093 Nantes Cedex 1, France.
[43]
Computational Biology Research Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.
[44]
Nuffield Department of Women's and Reproductive Health, University of Oxford, Women's Centre, John Radcliffe Hospital, Oxford OX3 9DS, UK; Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford OX3 7FZ, UK; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7FZ, UK.
[45]
Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, 6500 HB, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, Maastricht 6229 ER, the Netherlands. Electronic address: han.brunner@radboudumc.nl.
[46]
Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address: andrew.wilkie@imm.ox.ac.uk.
[47]
主题词
青少年(Adolescent);成年人(Adult);碱基序列(Base Sequence);细胞系(Cell Line);儿童(Child);儿童, 学龄前(Child, Preschool);面容(Facies);女(雌)性(Female);遗传关联研究(Genetic Association Studies);人类(Humans);婴儿(Infant);遗传方式(Inheritance Patterns);男(雄)性(Male);蛋白激酶类(Protein Kinases);RNA, 信使(RNA, Messenger);易位, 遗传(Translocation, Genetic);青年人(Young Adult)
DOI
10.1016/j.ajhg.2018.04.014
PMID
29861108
发布时间
2024-03-06
- 浏览8
American journal of human genetics
American journal of human genetics
1195-1203页
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