Associated Papers
Genetic Characterization of 128 Chinese Individuals with Neurodevelopmental Disorders via Whole-Exome Sequencing.
Qin Y et al.
Developmental Neuroscience, 2025
Analysis of retrospective natural history data collected from patients with SYNGAP1-related disorders: a preliminary examination of the Citizen database.
Scott MR et al.
Orphanet Journal of Rare Diseases, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
Wiltrout K et al.
Epilepsia, 2024
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B et al.
Epilepsia Open, 2023
[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
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
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
Xiong J et al.
Frontiers in Neuroscience, 2019
31031587 (PubMed )
Supplement: Table_1.XLSX › ASD_group
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
Chérot E et al.
Clinical Genetics, 2018
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
Mignot C et al.
Journal of Medical Genetics, 2016
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