Associated Papers
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
Proband-Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights.
Ghalamkari S et al.
American Journal of Medical Genetics. Part A, 2025
Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
Wiltrout K et al.
Epilepsia, 2024
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
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF
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
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
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC et al.
Human Mutation, 2019
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
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM et al.
Neurology, 2019
SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits.
Michaelson SD et al.
Nature Neuroscience, 2018
30455457 (PubMed )
Supplement: NIHMS1508741-supplement-Sup_Table_2.xlsx › Supplemental_Table_2
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
27824329 (PubMed )
Supplement: ncomms13316-s7.xlsx › Supplementary_Data_6
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