Associated Papers
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Pavinato L et al.
Brain : a Journal of Neurology, 2023
Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.
Vilela J et al.
Frontiers in Molecular Neuroscience, 2022
36061363 (PubMed )
Supplement: Table_7.xlsx › Rare_de_novo_LoF
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
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
CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks.
Deneault E et al.
Elife, 2019
mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications.
Li Z et al.
Human Mutation, 2017
Genome-wide characteristics of de novo mutations in autism.
Yuen RK et al.
Npj Genomic Medicine, 2016
27525107 (PubMed )
Supplement: npjgenmed201627-s3.xlsx › Table_S10
Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.
Jiang YH et al.
Critical Reviews in Clinical Laboratory Sciences, 2014
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
Jiang YH et al.
American Journal of Human Genetics, 2013
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