Associated Papers
Expanding the Phenotypic Spectrum of SCN2A: Generalized Dystonia without Epilepsy or Encephalopathy.
Altamirano JM et al.
Movement Disorders Clinical Practice, 2025
Generation and characterization of human-induced pluripotent stem cell lines from patients with autism spectrum disorder and SCN2A variants.
Santos JLS et al.
Human Cell, 2025
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China.
Hu C et al.
Genes, 2022
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.
Crawford K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33731876 (PubMed )
Supplement: 41436_2021_1120_MOESM1_ESM.pdf
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM11_ESM.xlsx › Supplementary_Data_9
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
Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency.
Sampaio GLA et al.
Stem Cell Research, 2019
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo H et al.
Molecular Autism, 2018
30564305 (PubMed )
Supplement: 13229_2018_247_MOESM5_ESM.xlsx › LGD
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Coe BP et al.
Nature Genetics, 2014
25217958 (PubMed )
Supplement: NIHMS622928-supplement-1.pdf
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