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De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
An, Yu; Zhang, Linna; Liu, Wenwen; Jiang, Yunyun; Chen, Xue; Lan, Xiaoping; Li, Gan; Hang, Qiang; Wang, Jian; Gusella, James F; Du, Yasong; Shen, Yiping.
Affiliation
  • An Y; Human Phenome Institute, Fudan University, 825 Zhangheng Road, Shanghai, 201203, China. anyu@fudan.edu.cn.
  • Zhang L; Huangpu District Mental Health Center, 1162 Qu Xi Road, Shanghai, 200023, China.
  • Liu W; Shanghai Mental Health Center, Shanghai Jiaotong University School of Medicine, 600 Wan ping Nan Road, Shanghai, 200013, China.
  • Jiang Y; Maternal and Child Health Hospital, Children's Hospital and Birth Defect Prevention Research Institute of Guangxi Zhuang Autonomous Region, 59 Xiangzhu Avenue, Nanning, 530002, Guangxi, China.
  • Chen X; Maternal and Child Health Hospital, Children's Hospital and Birth Defect Prevention Research Institute of Guangxi Zhuang Autonomous Region, 59 Xiangzhu Avenue, Nanning, 530002, Guangxi, China.
  • Lan X; Children's Hospital of Shanghai, Shanghai Jiaotong University School of Medicine, Shanghai, China.
  • Li G; State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, 200438, China.
  • Hang Q; State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, 200438, China.
  • Wang J; Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
  • Gusella JF; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Du Y; Department of Genetics, Harvard Medical School, Boston, MA, USA.
  • Shen Y; Shanghai Mental Health Center, Shanghai Jiaotong University School of Medicine, 600 Wan ping Nan Road, Shanghai, 200013, China.
Hum Genet ; 139(4): 499-512, 2020 Apr.
Article in En | MEDLINE | ID: mdl-31980904
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Full text: 1 Database: MEDLINE Main subject: Phenotype / Transcription Factors / Tuberous Sclerosis / Rett Syndrome / Codon, Nonsense / Mutation, Missense / DNA-Binding Proteins / Autism Spectrum Disorder / Fragile X Syndrome / Language Development Disorders Type of study: Prognostic_studies / Risk_factors_studies Limits: Child / Female / Humans / Male Language: En Journal: Hum Genet Year: 2020 Type: Article Affiliation country: China
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Phenotype / Transcription Factors / Tuberous Sclerosis / Rett Syndrome / Codon, Nonsense / Mutation, Missense / DNA-Binding Proteins / Autism Spectrum Disorder / Fragile X Syndrome / Language Development Disorders Type of study: Prognostic_studies / Risk_factors_studies Limits: Child / Female / Humans / Male Language: En Journal: Hum Genet Year: 2020 Type: Article Affiliation country: China