Associated Papers
MED13L-related disorder characterized by severe motor speech impairment.
Mitchel MW et al.
Journal of Neurodevelopmental Disorders, 2025
MED13L-related disorder characterized by severe motor speech impairment.
Mitchel MW et al.
Research Square, 2024
Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.
Hudac CM et al.
Journal of Autism and Developmental Disorders, 2024
37031308 (PubMed )
Supplement: 10803_2023_5897_MOESM2_ESM.xlsx › SITable2
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
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
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Guo H et al.
Nature Communications, 2019
31616000 (PubMed )
Supplement: 41467_2019_12435_MOESM2_ESM.xls › Supp._Data_1
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Guo H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Smol T et al.
Neurogenetics, 2018
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
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
O'Roak BJ et al.
Nature Communications, 2014
25418537 (PubMed )
Supplement: NIHMS636245-supplement-2.xlsx › Sheet_1
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