Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

(2012) Myriam Srour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Inhibition and Termination of Physiological Responses by GTPase Activating Proteins

(2012) Erzsébet Ligeti et al.   PHYSIOLOGICAL REVIEWS

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

(2011) Fadi F. Hamdan et al.   BIOLOGICAL PSYCHIATRY

A balanced translocation disruptsSYNGAP1in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)

(2011) Laura L. Klitten et al.   EPILEPSIA

A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation

(2010) Ana Cristina V. Krepischi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome

(2010) Marcella Zollino et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disruption of hippocampus-regulated behavioural and cognitive processes by heterozygous constitutive deletion of SynGAP

(2010) Mary Muhia et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Reduced Expression of the NMDA Receptor-Interacting Protein SynGAP Causes Behavioral Abnormalities that Model Symptoms of Schizophrenia

(2009) Xiaochuan Guo et al.   NEUROPSYCHOPHARMACOLOGY

Mutations inSYNGAP1in Autosomal Nonsyndromic Mental Retardation

(2009) Fadi F. Hamdan et al.   NEW ENGLAND JOURNAL OF MEDICINE

The C2 domain of SynGAP is essential for stimulation of the Rap GTPase reaction

(2008) Vladimir Pena et al.   EMBO REPORTS

SynGAP Regulates Steady-State and Activity-Dependent Phosphorylation of Cofilin

(2008) H. J. Carlisle et al.   JOURNAL OF NEUROSCIENCE