Associated Papers
Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations.
Wang Z et al.
Genetics Research, 2025
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
An Y et al.
Human Genetics, 2020
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.
Watkins WS et al.
Nature Communications, 2019
31624253 (PubMed )
Supplement: 41467_2019_12582_MOESM7_ESM.xlsx › SuppData6.Sanger_confirmations
Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing.
Wu J et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2018
Identification of a rare variant in CHD8 that contributes to schizophrenia and autism spectrum disorder susceptibility.
Kimura H et al.
Schizophrenia Research, 2016
Select a paper to view details