Associated Papers
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.
Ribeiro-Constante J et al.
Frontiers in Cell and Developmental Biology, 2024
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
Frisk S et al.
Molecular Genetics & Genomic Medicine, 2022
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
Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression.
Jimenez-Gomez A et al.
Journal of Neurodevelopmental Disorders, 2019
31395010 (PubMed )
Supplement: 11689_2019_9276_MOESM1_ESM.xlsx › Sheet1
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S et al.
Scientific Reports, 2017
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
Mignot C et al.
Journal of Medical Genetics, 2016
Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.
Tan CA et al.
Clinical Genetics, 2016
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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