Genetic and neurodevelopmental spectrum ofSYNGAP1-associated intellectual disability and epilepsy

De novo, heterozygous, loss-of-function mutations inSYNGAP1cause a syndromic form of intellectual disability

(2015) Michael J. Parker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Syngap1 Haploinsufficiency Damages a Postnatal Critical Period of Pyramidal Cell Structural Maturation Linked to Cortical Circuit Assembly

(2015) Massimiliano Aceti et al.   BIOLOGICAL PSYCHIATRY

SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG

(2015) Claudia Funke et al.   NEUROPEDIATRICS

Sensitive and critical periods during neurotypical and aberrant neurodevelopment: A framework for neurodevelopmental disorders

(2015) R.M. Meredith   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

(2014) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

(2014) Caroline Nava et al.   NATURE GENETICS

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

(2014) B. J. O'Roak et al.   Nature Communications

6p21.3 microdeletion involving theSYNGAP1gene in a patient with intellectual disability, seizures, and severe speech impairment

(2013) Karin Writzl et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Activity-dependent neuronal signalling and autism spectrum disorder

(2013) Daniel H. Ebert et al.   NATURE

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine Synapses

(2012) James P. Clement et al.   CELL

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

(2012) Martin H. Berryer et al.   HUMAN MUTATION

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

SynGAP isoforms exert opposing effects on synaptic strength

(2012) A.C. McMahon et al.   Nature Communications

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

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

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

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

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

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

(2010) Roberto Toro et al.   TRENDS IN GENETICS

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