Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
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
[Autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations: a report of 8 cases and literature review].
Wang XL et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023
Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations.
Wang Y et al.
Frontiers in Genetics, 2022
Phenotypes in Children With SYNGAP1 Encephalopathy in China.
Zhang H et al.
Frontiers in Neuroscience, 2021
Twenty Years of SynGAP Research: From Synapses to Cognition.
Gamache TR et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2020
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
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
Mignot C et al.
Journal of Medical Genetics, 2016
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
Parker MJ et al.
American Journal of Medical Genetics. Part A, 2015
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