Condition: Mental Retardation, Autosomal Dominant 5


rs1554121189 in MIR5004;SYNGAP1 gene and Mental Retardation, Autosomal Dominant 5 PMID 23161826 2013 Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

rs1131691979 in SYNGAP1 gene and Mental Retardation, Autosomal Dominant 5 PMID 25418537 2014 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

PMID 21237447 2011 De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

PMID 26989088 2016 Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

PMID 23161826 2013 Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 19196676 2009 Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 28554332 2017 Genomic diagnosis for children with intellectual disability and/or developmental delay.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.