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Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong, Xinran; Liu, Bo; Yang, Lin; Wang, Huijun; Wu, Bingbing; Liu, Renchao; Chen, Hongbo; Chen, Xiang; Yu, Sha; Chen, Bin; Wang, Sujuan; Xu, Xiu; Zhou, Wenhao; Lu, Yulan.
Afiliación
  • Dong X; Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
  • Liu B; Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
  • Yang L; Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
  • Wang H; Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
  • Wu B; Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
  • Liu R; Clinical Genetic Center, Children's Hospital of Fudan University, Shanghai, China.
  • Chen H; Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
  • Chen X; Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
  • Yu S; Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
  • Chen B; Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
  • Wang S; Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
  • Xu X; Department of Rehabilitation, Children's Hospital of Fudan University, Shanghai, China.
  • Zhou W; Division of Child Health Care, Children's Hospital of Fudan University, Shanghai, China.
  • Lu Y; Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
J Med Genet ; 57(8): 558-566, 2020 08.
Article en En | MEDLINE | ID: mdl-32005694
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Proteína 2 de Unión a Metil-CpG / Canal de Sodio Activado por Voltaje NAV1.1 / Canal de Sodio Activado por Voltaje NAV1.2 / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Med Genet Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Proteína 2 de Unión a Metil-CpG / Canal de Sodio Activado por Voltaje NAV1.1 / Canal de Sodio Activado por Voltaje NAV1.2 / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Med Genet Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido