Associated Papers
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.
Ribeiro-Constante J et al.
Frontiers in Cell and Developmental Biology, 2024
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
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Gibson KM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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
26079862 (PubMed )
Supplement: AJMG-167-2231-s002.xls › Table_1
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.
Volk A et al.
Molecular Syndromology, 2015
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Berryer MH et al.
Human Mutation, 2013
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
Hamdan FF et al.
Biological Psychiatry, 2011
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
Hamdan FF et al.
American Journal of Human Genetics, 2011
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
Hamdan FF et al.
The New England Journal of Medicine, 2009
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