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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.

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第一作者： Elizabeth A,Normand

第一单位： Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

作者： Elizabeth A,Normand ^[1] ; Alicia,Braxton ^[2] ; Salma,Nassef ^[1] ; Patricia A,Ward ^[2] ; Francesco,Vetrini ^[3] ; Weimin,He ^[3] ; Vipulkumar,Patel ^[3] ; Chunjing,Qu ^[3] ; Lauren E,Westerfield ^[1] ; Samantha,Stover ^[1] ; Avinash V,Dharmadhikari ^[3] ; Donna M,Muzny ^[4] ; Richard A,Gibbs ^[4] ; Hongzheng,Dai ^[1] ; Linyan,Meng ^[2] ; Xia,Wang ^[2] ; Rui,Xiao ^[2] ; Pengfei,Liu ^[2] ; Weimin,Bi ^[2] ; Fan,Xia ^[2] ; Magdalena,Walkiewicz ^[5] ; Ignatia B,Van den Veyver ^[6] ; Christine M,Eng ^[2] ; Yaping,Yang ^[7]

作者单位： Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. ^[1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Baylor Genetics, Houston, TX, USA. ^[2] Baylor Genetics, Houston, TX, USA. ^[3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. ^[4] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Baylor Genetics, Houston, TX, USA.;Present address: The National Institute of Allergy and Infectious Disease, NIH, Bethesda, MD, USA. ^[5] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, USA. ^[6] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. yapingy@bcm.edu.;Baylor Genetics, Houston, TX, USA. yapingy@bcm.edu. ^[7]

关键词 Exome sequencing Fetal structural abnormalities Mendelian disease Prenatal Single-gene disorder

医学主题词家庭(Family);胎儿(Fetus);遗传性疾病, 先天性(Genetic Diseases, Inborn);人类(Humans);遗传方式(Inheritance Patterns);表型(Phenotype);超声检查, 产前(Ultrasonography, Prenatal)

DOI 10.1186/s13073-018-0582-x

PMID 30266093

发布时间 2022-12-07

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