换一批
换一批Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
作者：
Nadia,Akawi [1]
;
Jeremy,McRae [1]
;
Morad,Ansari [2]
;
Meena,Balasubramanian [3]
;
Moira,Blyth [4]
;
Angela F,Brady [5]
;
Stephen,Clayton [1]
;
Trevor,Cole [6]
;
Charu,Deshpande [7]
;
Tomas W,Fitzgerald [1]
;
Nicola,Foulds [8]
;
Richard,Francis [9]
;
George,Gabriel [10]
;
Sebastian S,Gerety [11]
;
Judith,Goodship [11]
;
Emma,Hobson [1]
;
Wendy D,Jones [12]
;
Shelagh,Joss [4]
;
Daniel,King [1]
;
Nikolai,Klena [13]
;
Ajith,Kumar [1]
;
Melissa,Lees [11]
;
Chris,Lelliott [14]
;
Jenny,Lord [14]
;
Dominic,McMullan [1]
;
Mary,O'Regan [1]
;
Deborah,Osio [6]
;
Virginia,Piombo [13]
;
Elena,Prigmore [15]
;
Diana,Rajan [1]
;
Elisabeth,Rosser [1]
;
Alejandro,Sifrim [1]
;
Audrey,Smith [14]
;
Ganesh J,Swaminathan [1]
;
Peter,Turnpenny [4]
;
James,Whitworth [1]
;
Caroline F,Wright [15]
;
Helen V,Firth [6]
;
Jeffrey C,Barrett [1]
;
Cecilia W,Lo [16]
;
David R,FitzPatrick [1]
;
Matthew E,Hurles [11]
;
DDD study [2]
作者单位：
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
[1]
Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Western General Hospital, Edinburgh, UK.
[2]
Sheffield Regional Genetics Services, Sheffield Children's National Health Service (NHS) Trust, Western Bank, Sheffield, UK.
[3]
Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK.
[4]
North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow, UK.
[5]
West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
[6]
South East Thames Regional Genetics Centre, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, UK.
[7]
Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, UK.
[8]
Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, UK.
[9]
Faculty of Medicine, University of Southampton, Southampton, UK.
[10]
Department of Developmental Biology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
[11]
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK.
[12]
West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute of Medical Genetics, Yorkhill Hospital, Glasgow, UK.
[13]
North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, London, UK.
[14]
Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Clinical Genetics Department, Royal Devon and Exeter Hospital (Heavitree), Exeter, UK.
[15]
East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
[16]
主题词
细胞周期蛋白质类(Cell Cycle Proteins);发育障碍(Developmental Disabilities);家庭卫生(Family Health);女(雌)性(Female);基因, 隐性(Genes, Recessive);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);遗传变异(Genetic Variation);基因型(Genotype);人类(Humans);男(雄)性(Male);基质金属蛋白酶类, 分泌(Matrix Metalloproteinases, Secreted);系谱(Pedigree);表型(Phenotype);蛋白质精氨酸N-甲基转移酶(Protein-Arginine N-Methyltransferases);序列分析, DNA(Sequence Analysis, DNA);泛素蛋白连接酶类(Ubiquitin-Protein Ligases)
DOI
10.1038/ng.3410
PMID
26437029
发布时间
2022-04-09
- 浏览28
Nature genetics
Nature genetics
1363-9页
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