Associated Papers
Decoding SCN2A Variants: Bridging Genetics and Phenotypes in Autism Spectrum Disorder.
DiStefano N et al.
Journal of Clinical Medicine, 2025
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
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.
Abdi M et al.
Genome Medicine, 2023
Further delineation of phenotypic spectrum of SCN2A-related disorder.
Richardson R et al.
American Journal of Medical Genetics. Part A, 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
Distinct genetic patterns of shared and unique genes across four neurodevelopmental disorders.
Zhang Y et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2021
Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.
Yao R et al.
Frontiers in Genetics, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy.
Miao P et al.
Molecular Genetics & Genomic Medicine, 2020
VariCarta: A Comprehensive Database of Harmonized Genomic Variants Found in Autism Spectrum Disorder Sequencing Studies.
Belmadani M et al.
Autism Research : Official Journal of the International Society for Autism 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