Associated Papers
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.
Stein D et al.
Genome Medicine, 2023
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
36053979 (PubMed )
Supplement: CGE-102-414-s009.xlsx › Blad1
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
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
Data on mutations and Clinical features in SCN1A or SCN2A gene.
Kong Y et al.
Data in Brief, 2019
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Corbett MA et al.
Neurology, 2016
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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