Associated Papers
Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder.
Srinath S et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Dingemans AJM et al.
Translational Psychiatry, 2022
36182950 (PubMed )
Supplement: 41398_2022_2189_MOESM1_ESM.xlsx › Sheet1
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
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