De Novo Mutations in Moderate or Severe Intellectual Disability

TBR1is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion

(2014) Orazio Palumbo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

GRIN2Bmutations in west syndrome and intellectual disability with focal epilepsy

(2013) Johannes R. Lemke et al.   ANNALS OF NEUROLOGY

Membrane Fission Reactions of the Mammalian ESCRT Pathway

(2013) John McCullough et al.   Annual Review of Biochemistry

Extended spectrum of MBD5 mutations in neurodevelopmental disorders

(2013) Céline Bonnet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

(2013) Reza Asadollahi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

GATAD2Bloss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth inDrosophila

(2013) Marjolein H Willemsen et al.   JOURNAL OF MEDICAL GENETICS

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

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

(2013) Gemma L Carvill et al.   NATURE GENETICS

GeneMANIA Prediction Server 2013 Update

(2013) Khalid Zuberi et al.   NUCLEIC ACIDS RESEARCH

Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

(2012) Juliane Hoyer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

(2012) Tjitske Kleefstra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

(2012) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

(2012) Gaelle Thierry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Parent-child exome sequencing identifiesade novotruncating mutation inTCF4in non-syndromic intellectual disability

(2012) F F Hamdan et al.   CLINICAL GENETICS

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity

(2012) Kyoko Takano et al.   HUMAN MOLECULAR GENETICS

Ryanodine Receptors: Structure and Function

(2012) Filip Van Petegem   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Novel Ryanodine Receptor 2 Mutation Associated with a Severe Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia

(2012) Martin J. LaPage et al.   JOURNAL OF PEDIATRICS

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

(2012) Anita Rauch et al.   LANCET

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia

(2012) Bin Xu et al.   NATURE GENETICS

Inherited calcium channelopathies in the pathophysiology of arrhythmias

(2012) Luigi Venetucci et al.   Nature Reviews Cardiology

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

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

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

(2011) Christian Wentzel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

(2011) Blake C. Ballif et al.   HUMAN GENETICS

SET Nuclear Oncogene Associates with Microcephalin/MCPH1 and Regulates Chromosome Condensation

(2011) Justin W. Leung et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

(2011) F. Kortum et al.   JOURNAL OF MEDICAL GENETICS

PKA/AKAP1 and PP2A/B 2 Regulate Neuronal Morphogenesis via Drp1 Phosphorylation and Mitochondrial Bioenergetics

(2011) A. S. Dickey et al.   JOURNAL OF NEUROSCIENCE

WAC, a Functional Partner of RNF20/40, Regulates Histone H2B Ubiquitination and Gene Transcription

(2011) Feng Zhang et al.   MOLECULAR CELL

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Genetics of Early Onset Cognitive Impairment

(2010) Hans Hilger Ropers   Annual Review of Genomics and Human Genetics

Cardiac Channel Molecular Autopsy for Sudden Unexpected Death in Epilepsy

(2010) Jonathan N. Johnson et al.   JOURNAL OF CHILD NEUROLOGY

Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome

(2010) I. Filges et al.   JOURNAL OF MEDICAL GENETICS

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

(2010) Sabine Endele et al.   NATURE GENETICS

A de novo paradigm for mental retardation

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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Human ESCRT-III and VPS4 proteins are required for centrosome and spindle maintenance

(2010) E. Morita et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

(2008) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Distinct functions of Egr gene family members in cognitive processes

(2008) Roseline Poirier   Frontiers in Neuroscience