Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype.

导出 OA

翻译打印收藏纠错

第一作者： Farah,Qaiser

第一单位： Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.

作者： Farah,Qaiser ^[1] ; Yue,Yin ^[2] ; Carolyn B,Mervis ^[2] ; Colleen A,Morris ^[3] ; Bonita P,Klein-Tasman ^[4] ; Elaine,Tam ^[5] ; Lucy R,Osborne ^[6] ; Ryan K C,Yuen ^[1]

作者单位： Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. ^[1] Genetics & Genome Biology Program, The Hospital for Sick Children, 686 Bay St., Toronto, ON, M5G 0A4, Canada. ^[2] Department of Psychological and Brain Sciences, University of Louisville, Louisville, KY, USA. ^[3] Department of Pediatrics, UNLV School of Medicine, Las Vegas, NV, USA. ^[4] Department of Psychology, University of Wisconsin-Milwaukee, Milwaukee, WI, USA. ^[5] Department of Medicine, University of Toronto, Toronto, ON, Canada. ^[6] Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. ryan.yuen@sickkids.ca. ^[7] Genetics & Genome Biology Program, The Hospital for Sick Children, 686 Bay St., Toronto, ON, M5G 0A4, Canada. ryan.yuen@sickkids.ca. ^[8]

关键词 7q11.23 duplication syndrome Autism spectrum disorder Copy number variant Phenotypic variability Single nucleotide variant Whole genome sequencing

主题词染色体缺失(Chromosome Deletion);DNA拷贝数变异(DNA Copy Number Variations);女(雌)性(Female);基因组学(Genomics);人类(Humans);表型(Phenotype);妊娠(Pregnancy)

DOI 10.1186/s13023-020-01648-6

PMID 33407644

发布时间 2024-05-01

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交