Associated Papers
Decoding SCN2A Variants: Bridging Genetics and Phenotypes in Autism Spectrum Disorder.
DiStefano N et al.
Journal of Clinical Medicine, 2025
Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population.
Dong R et al.
Journal of Human Genetics, 2024
Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests.
Zhang Y et al.
Frontiers in Genetics, 2023
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X et al.
Nature Genetics, 2022
35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs
Further delineation of phenotypic spectrum of SCN2A-related disorder.
Richardson R et al.
American Journal of Medical Genetics. Part A, 2022
[Autism spectrum disorder/development delay in siblings with SCN2A mutations caused by germline mosaicism].
Zhang P et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
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_MOESM10_ESM.xlsx › Supplementary_Data_8
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.
Kothur K et al.
Seizure, 2018
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
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