The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

SHANK proteins: roles at the synapse and in autism spectrum disorder

(2017) Patricia Monteiro et al.   NATURE REVIEWS NEUROSCIENCE

The spectrum of epilepsy and electroencephalographic abnormalities due toSHANK3loss-of-function mutations

(2016) J. Lloyd Holder et al.   EPILEPSIA

Genetic and neurodevelopmental spectrum ofSYNGAP1-associated intellectual disability and epilepsy

(2016) Cyril Mignot et al.   JOURNAL OF MEDICAL GENETICS

Prioritizing the development of mouse models for childhood brain disorders

(2016) Kevin K. Ogden et al.   NEUROPHARMACOLOGY

Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function

(2016) Martin H. Berryer et al.   Nature Communications

A model for regulation by SynGAP-α1 of binding of synaptic proteins to PDZ-domain 'Slots' in the postsynaptic density

(2016) Ward G Walkup et al.   eLife

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

Glutamate Synapses in Human Cognitive Disorders

(2015) Lenora Volk et al.   Annual Review of Neuroscience

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

(2015) Massimiliano Aceti et al.   BIOLOGICAL PSYCHIATRY

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis

(2015) Robert A. Kozol et al.   HUMAN MOLECULAR GENETICS

Convergence of Hippocampal Pathophysiology in Syngap+/- and Fmr1-/y Mice

(2015) S. A. Barnes et al.   JOURNAL OF NEUROSCIENCE

Dysregulation of Mammalian Target of Rapamycin Signaling in Mouse Models of Autism

(2015) K. M. Huber et al.   JOURNAL OF NEUROSCIENCE

Dysregulation and restoration of translational homeostasis in fragile X syndrome

(2015) Joel D. Richter et al.   NATURE REVIEWS NEUROSCIENCE

Rapid Dispersion of SynGAP from Synaptic Spines Triggers AMPA Receptor Insertion and Spine Enlargement during LTP

(2015) Yoichi Araki et al.   NEURON

Phosphorylation of Synaptic GTPase-activating Protein (synGAP) by Ca2+/Calmodulin-dependent Protein Kinase II (CaMKII) and Cyclin-dependent Kinase 5 (CDK5) Alters the Ratio of Its GAP Activity toward Ras and Rap GTPases

(2014) Ward G. Walkup et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome

(2014) Yong-Seok Lee et al.   NATURE NEUROSCIENCE

Reduced Cognition in Syngap1 Mutants Is Caused by Isolated Damage within Developing Forebrain Excitatory Neurons

(2014) Emin D. Ozkan et al.   NEURON

SynGAP Regulates Protein Synthesis and Homeostatic Synaptic Plasticity in Developing Cortical Networks

(2014) Chih-Chieh Wang et al.   PLoS One

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

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

SYNGAP1 Links the Maturation Rate of Excitatory Synapses to the Duration of Critical-Period Synaptic Plasticity

(2013) J. P. Clement et al.   JOURNAL OF NEUROSCIENCE

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

(2013) Kihoon Han 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

De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

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

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

(2010) Dalila Pinto et al.   NATURE

Characterization of the proteome, diseases and evolution of the human postsynaptic density

(2010) Àlex Bayés et al.   NATURE NEUROSCIENCE

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

Neurofibromin Regulation of ERK Signaling Modulates GABA Release and Learning

(2008) Yijun Cui et al.   CELL