The genetic basis of non-syndromic intellectual disability: a review

Prevalence of Autism among Adolescents with Intellectual Disabilities

(2017) Susan E Bryson et al.   CANADIAN JOURNAL OF PSYCHIATRY-REVUE CANADIENNE DE PSYCHIATRIE

Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Ability

(2010) Dina Ruano et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

(2010) Maila Giannandrea et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan

(2010) MA Rafiq et al.   CLINICAL GENETICS

A Postsynaptic Signaling Pathway that May Account for the Cognitive Defect Due to IL1RAPL1 Mutation

(2010) Alice Pavlowsky et al.   CURRENT BIOLOGY

The prevalence of mental retardation: a critical review of recent literature

(2010) Nel Roeleveld et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

AUTISM SPECTRUM DISORDERS IN CHILDREN WITH PHYSICAL OR MENTAL DISABILITY OR BOTH. I: CLINICAL AND EPIDEMIOLOGICAL ASPECTS

(2010) Viviann Nordin et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A Functional Link between the Histone Demethylase PHF8 and the Transcription Factor ZNF711 in X-Linked Mental Retardation

(2010) Daniela Kleine-Kohlbrecher et al.   MOLECULAR CELL

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

(2010) Dalila Pinto et al.   NATURE

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

(2010) Simone Berkel et al.   NATURE GENETICS

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

(2010) A. Noor et al.   Science Translational Medicine

The Role of MeCP2 in Brain Development and Neurodevelopmental Disorders

(2010) Michael L. Gonzales et al.   Current Psychiatry Reports

Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3

(2009) Abdul Noor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

(2009) Christiane Zweier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

(2009) Orianne Philippe et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

(2009) Asif Mir et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

(2009) Ganeshwaran H. Mochida et al.   AMERICAN JOURNAL OF HUMAN GENETICS

AberrantGRIA3transcripts with multi-exon duplications in a family with X-linked mental retardation

(2009) C. Bonnet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novoSTXBP1mutations in mental retardation and nonsyndromic epilepsy

(2009) Fadi F. Hamdan et al.   ANNALS OF NEUROLOGY

Coincident Pre- and Postsynaptic Activation Induces Dendritic Filopodia via Neurotrypsin-Dependent Agrin Cleavage

(2009) Kazumasa Matsumoto-Miyai et al.   CELL

The Postsynaptic Density Proteins Homer and Shank Form a Polymeric Network Structure

(2009) Mariko Kato Hayashi et al.   CELL

Therapy for neuromuscular disorders

(2009) Andrea LH Arnett et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Motor stereotypies in children with autism and other developmental disorders

(2009) SYLVIE GOLDMAN et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Splice variants of the human ZC3H14 gene generate multiple isoforms of a zinc finger polyadenosine RNA binding protein

(2009) Sara W. Leung et al.   GENE

The Rho-linked mental retardation protein oligophrenin-1 controls synapse maturation and plasticity by stabilizing AMPA receptors

(2009) N. Nadif Kasri et al.   GENES & DEVELOPMENT

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study

(2009) Dominic J. McMullan et al.   HUMAN MUTATION

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Rab3 Dynamically Controls Protein Composition at Active Zones

(2009) Ethan R. Graf et al.   NEURON

Mutations inSYNGAP1in Autosomal Nonsyndromic Mental Retardation

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

Suppression of Nonsense Mutations in Rett Syndrome by Aminoglycoside Antibiotics

(2009) Cornelia Brendel et al.   PEDIATRIC RESEARCH

Mammalian MagT1 and TUSC3 are required for cellular magnesium uptake and vertebrate embryonic development

(2009) H. Zhou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The genetic landscape of intellectual disability arising from chromosome X

(2009) Jozef Gécz et al.   TRENDS IN GENETICS

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

(2008) Abdul Noor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

(2008) Masoud Garshasbi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

(2008) Florence Molinari et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability

(2008) Kavita Bhalla et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

(2008) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel mutation ofIL1RAPL1gene in a nonspecific X-linked mental retardation (MRX) family

(2008) Magdalena Nawara et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel mutation inJARID1C/SMCX in a patient with autism spectrum disorder (ASD)

(2008) Abidemi Adegbola et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CASK Functions as a Mg2+-Independent Neurexin Kinase

(2008) Konark Mukherjee et al.   CELL

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features

(2008) Imen Rejeb et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

MAGUK proteins: New targets for pharmacological intervention in the glutamatergic synapse

(2008) Fabrizio Gardoni   EUROPEAN JOURNAL OF PHARMACOLOGY

Neurotrypsin cleaves agrin locally at the synapse

(2008) Alexander Stephan et al.   FASEB JOURNAL

Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease

(2008) P. A.C. Cloos et al.   GENES & DEVELOPMENT

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

(2008) A. Piton et al.   HUMAN MOLECULAR GENETICS

Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice

(2008) D. G.M. Jugloff et al.   HUMAN MOLECULAR GENETICS

Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

(2008) David A. Koolen et al.   HUMAN MUTATION

Neuroligins and neurexins link synaptic function to cognitive disease

(2008) Thomas C. Südhof   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

(2008) Leanne M Dibbens et al.   NATURE GENETICS

Synaptic vesicle fusion

(2008) Josep Rizo et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation

(2008) Joseph J. Higgins et al.   NEUROGENETICS

Investigating genotype-phenotype relationships in Rett syndrome using an international data set

(2008) A. Bebbington et al.   NEUROLOGY

Differential trafficking of AMPA and NMDA receptors by SAP102 and PSD-95 underlies synapse development

(2008) G. M. Elias et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Common variants underlying cognitive ability: further evidence for association between the SNAP-25 gene and cognition using a family-based study in two independent Dutch cohorts

(2007) M. F. Gosso et al.   GENES BRAIN AND BEHAVIOR

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

(2007) Bradley L. Griggs et al.   GENOMICS