Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests.

Zhang, Yue; Li, Ying; Guo, Ruolan; Xu, Wenjian; Liu, Xuanshi; Zhao, Chunlin; Guo, Qi; Xu, Wenshan; Ni, Xin; Hao, Chanjuan; Cui, Yonghua; Li, Wei

Zhang, Yue; Li, Ying; Guo, Ruolan; Xu, Wenjian; Liu, Xuanshi; Zhao, Chunlin; Guo, Qi; Xu, Wenshan; Ni, Xin; Hao, Chanjuan; Cui, Yonghua; Li, Wei.

Afiliação

Zhang Y; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Li Y; Department of Psychiatry, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Guo R; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Xu W; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Liu X; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Zhao C; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Guo Q; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Xu W; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Ni X; National Center for Children's Health, Beijing, China.
Hao C; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Cui Y; Department of Psychiatry, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Li W; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Front Genet ; 14: 1108440, 2023.

Article em En | MEDLINE | ID: mdl-37035742

Palavras-chave

RNA sequencing; autism spectrum disorder; copy number variation; single nucleotide variation; whole-genome sequencing

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Front Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China

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