Associated Papers
Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability.
Liao B et al.
Frontiers in Neurology, 2025
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder.
Cordova I et al.
Genes, 2024
38674358 (PubMed )
Supplement: genes-15-00423-s001.zip › genes-2896901-supplementary.xlsx › SupplementalTable1
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Stessman HA et al.
Nature Genetics, 2017
28191889 (PubMed )
Supplement: NIHMS846201-supplement-1.pdf
Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism.
Luhrs K et al.
Autism Research and Treatment, 2017
29250444 (PubMed )
Supplement: 9371964.f1.xlsx › SI_Table3
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
27824329 (PubMed )
Supplement: ncomms13316-s7.xlsx › Supplementary_Data_6
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