换一批
换一批Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in <i>SCN1A</i>.
作者：
Charles A,Steward [1]
;
Jolien,Roovers [2]
;
Marie-Marthe,Suner [3]
;
Jose M,Gonzalez [4]
;
Barbara,Uszczynska-Ratajczak [2]
;
Dmitri,Pervouchine [5]
;
Stephen,Fitzgerald [2]
;
Margarida,Viola [5]
;
Hannah,Stamberger [6]
;
Fadi F,Hamdan [7]
;
Berten,Ceulemans [8]
;
Patricia,Leroy [9]
;
Caroline,Nava [2]
;
Anne,Lepine [3]
;
Electra,Tapanari [4]
;
Don,Keiller [3]
;
Stephen,Abbs [4]
;
Alba,Sanchis-Juan [10]
;
Detelina,Grozeva [11]
;
Anthony S,Rogers [12]
;
Mark,Diekhans [13]
;
Roderic,Guigó [14]
;
Robert,Petryszak [15]
;
Berge A,Minassian [16]
;
Gianpiero,Cavalleri [2]
;
Dimitrios,Vitsios [5]
;
Slavé,Petrovski [17]
;
Jennifer,Harrow [18]
;
Paul,Flicek [19]
;
F,Lucy Raymond [20]
;
Nicholas J,Lench [1]
;
Peter De,Jonghe [21]
;
Jonathan M,Mudge [6]
;
Sarah,Weckhuysen [7]
;
Sanjay M,Sisodiya [5]
;
Adam,Frankish [22]
作者单位：
Congenica Ltd, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1DR UK.
[1]
2Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA UK.
[2]
3Neurogenetics Group, Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.
[3]
4Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
[4]
5European Molecular Biology Laboratory, European Bioinformatics Institute, EMBL-EBI, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD UK.
[5]
6Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology, Dr. Aiguader 88, 08003 Barcelona, Spain.
[6]
7Universitat Pompeu Fabra (UPF), Barcelona, Spain.
[7]
8Centre of New Technologies, University of Warsaw, Warsaw, Poland.
[8]
Skolkovo Institute for Science and Technology 3 Nobel St., Skolkovo Innovation Centre, Moscow, Russia.
[9]
10Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.
[10]
11Molecular Diagnostic Laboratory and Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, H3T 1C5 Canada.
[11]
12Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.
[12]
Department of Neuropediatrics, CHR Citadelle, CHU Sart-Tilman, Liège, Belgium.
[13]
14Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
[14]
15Sorbonne Universities, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France.
[15]
16Pediatric Neurology Department, Timone Hospital, APHM, Marseille, France.
[16]
17Anglia Ruskin University, Cambridge, CB1 1PT UK.
[17]
18Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ UK.
[18]
19Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge, CB2 0PT UK.
[19]
20Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY UK.
[20]
21Center for Biomolecular Science and Engineering, University of California, Santa Cruz, CA USA.
[21]
22The Hospital for Sick Children, Toronto, Canada.
[22]
23Department of Pediatrics (Neurology), University of Texas Southwestern, Dallas, Texas USA.
[23]
24The FutureNeuro Research Centre, Royal College of Surgeons in Ireland, Dublin, Ireland.
[24]
25Centre for Genomics Research, Precision Medicine and Genomics, IMED Biotech Unit, AstraZeneca, Cambridge, CB2 0AA UK.
[25]
26Illumina Inc, Great Chesterford, Essex, CB10 1XL UK.
[26]
27North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
[27]
28Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG UK.
[28]
Chalfont Centre for Epilepsy, Bucks, SL9 0RJ UK.
[29]
DOI
10.1038/s41525-019-0106-7
PMID
31814998
发布时间
2021-01-10
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NPJ genomic medicine
2019年4卷
31页
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