Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

Heterozygous Mutations in MAP3K7 , Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

(2016) Carine Le Goff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

(2016) Emma M. Wade et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

(2016) Anide Johansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification ofC12orf4as a gene for autosomal recessive intellectual disability

(2016) A.K. Philips et al.   CLINICAL GENETICS

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability

(2016) Kirti Mittal et al.   JOURNAL OF HUMAN GENETICS

Genome-wide association study of cognitive functions and educational attainment in UK Biobank (N=112 151)

(2016) G Davies et al.   MOLECULAR PSYCHIATRY

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

(2016) Tarjinder Singh et al.   NATURE NEUROSCIENCE

Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability

(2016) Nasim Vasli et al.   PSYCHIATRIC GENETICS

Health and population effects of rare gene knockouts in adult humans with related parents

(2016) V. M. Narasimhan et al.   SCIENCE

Prenatal, Perinatal and Neonatal Risk Factors for Intellectual Disability: A Systemic Review and Meta-Analysis

(2016) Jichong Huang et al.   PLoS One

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

(2015) Muhammad Arshad Rafiq et al.   BMC Medical Genetics

Psychiatric classification – a developmental perspective

(2015) Jeremy Hall et al.   BRITISH JOURNAL OF PSYCHIATRY

Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait

(2015) Sanja Franić et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

(2015) Iltaf Ahmed et al.   HUMAN MOLECULAR GENETICS

Mutations in the histamineN-methyltransferase gene,HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

(2015) Abolfazl Heidari et al.   HUMAN MOLECULAR GENETICS

Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy

(2015) Katrina Celis et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Erratum: Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database

(2015) Jinchen Li et al.   MOLECULAR PSYCHIATRY

A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability

(2015) T Figueiredo et al.   MOLECULAR PSYCHIATRY

Common polygenic risk for autism spectrum disorder (ASD) is associated with cognitive ability in the general population

(2015) T-K Clarke et al.   MOLECULAR PSYCHIATRY

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

(2015) H Hu et al.   MOLECULAR PSYCHIATRY

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

DNA-methyltransferase1 (DNMT1) binding to CpG rich GABAergic and BDNF promoters is increased in the brain of schizophrenia and bipolar disorder patients

(2015) E. Dong et al.   SCHIZOPHRENIA RESEARCH

Overlapping Requirements for Tet2 and Tet3 in Normal Development and Hematopoietic Stem Cell Emergence

(2015) Cheng Li et al.   Cell Reports

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability

(2014) Rosalind Law et al.   AMERICAN JOURNAL OF HUMAN GENETICS

FSuite: exploiting inbreeding in dense SNP chip and exome data

(2014) Steven Gazal et al.   BIOINFORMATICS

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency

(2014) Monique Van Scherpenzeel et al.   BRAIN

A Proteome-Scale Map of the Human Interactome Network

(2014) Thomas Rolland et al.   CELL

Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family

(2014) Asif Mir et al.   HUMAN GENETICS

Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability

(2014) Marie Bernkopf et al.   HUMAN MOLECULAR GENETICS

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability

(2014) S E McCarthy et al.   MOLECULAR PSYCHIATRY

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

De novo mutations in schizophrenia implicate synaptic networks

(2014) Menachem Fromer et al.   NATURE

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3

(2014) Sofie Metsu et al.   PLoS Genetics

De Novo Mutations in Moderate or Severe Intellectual Disability

(2014) Fadi F. Hamdan et al.   PLoS Genetics

Increased binding of MeCP2 to the GAD1 and RELN promoters may be mediated by an enrichment of 5-hmC in autism spectrum disorder (ASD) cerebellum

(2014) A Zhubi et al.   Translational Psychiatry

Tet1 Regulates Adult Hippocampal Neurogenesis and Cognition

(2013) Run-Rui Zhang et al.   Cell Stem Cell

The Confidential Inquiry into premature deaths of people with intellectual disabilities in the UK: a population-based study

(2013) Pauline Heslop et al.   LANCET

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetics of recessive cognitive disorders

(2013) Luciana Musante et al.   TRENDS IN GENETICS

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

(2012) Muzammil Ahmad Khan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype

(2012) Giuseppe Marangi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly

(2012) Naseebullah Kakar et al.   European Journal of Medical Genetics

Microtubule Plus-End Tracking Proteins SLAIN1/2 and ch-TOG Promote Axonal Development

(2012) B. van der Vaart et al.   JOURNAL OF NEUROSCIENCE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

(2012) Erik G. Puffenberger et al.   PLoS One

Upregulation of TET1 and downregulation of APOBEC3A and APOBEC3C in the parietal cortex of psychotic patients

(2012) E Dong et al.   Translational Psychiatry

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

(2011) Muhammad Arshad Rafiq et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2

(2011) Sietske H.G. Kevelam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

(2011) Muzammil Ahmad Khan et al.   BMC Medical Genetics

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

(2011) Liyun Sang et al.   CELL

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity

(2011) R Abou Jamra et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Temporal dynamics and genetic control of transcription in the human prefrontal cortex

(2011) Carlo Colantuoni et al.   NATURE

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Next-generation sequencing to generate interactome datasets

(2011) Haiyuan Yu et al.   NATURE METHODS

Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk Loci for Autism and Dyslexia

(2010) Alistair T. Pagnamenta et al.   BIOLOGICAL PSYCHIATRY

ZFIN: enhancements and updates to the zebrafish model organism database

(2010) Y. Bradford et al.   NUCLEIC ACIDS RESEARCH

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

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

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