Genetic studies in intellectual disability and related disorders (Q38616789)

4 September 2017

title

Genetic studies in intellectual disability and related disorders (English)

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4 September 2017

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intellectual disability

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disability affecting intellectual abilities

inferred from title

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Joris A Veltman

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Christian Gilissen

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Lisenka E L M Vissers

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4 September 2017

language of work or name

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27 October 2015

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4 September 2017

published in

Nature Reviews Genetics

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4 September 2017

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4 September 2017

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4 September 2017

page(s)

9-18

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Prevalence of intellectual disability: a meta-analysis of population-based studies

4 September 2017

cites work

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Genomics, intellectual disability, and autism

21 January 2018

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Phenotypic heterogeneity of genomic disorders and rare copy-number variants

21 January 2018

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Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

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Genome sequencing identifies major causes of severe intellectual disability

21 January 2018

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Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

21 January 2018

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

21 January 2018

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A de novo paradigm for mental retardation

21 January 2018

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 January 2018

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

21 January 2018

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Genetics of recessive cognitive disorders

21 January 2018

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Comprehensive evaluation of the child with intellectual disability or global developmental delays

21 January 2018

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Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

21 January 2018

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Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

21 January 2018

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Absence of expression of the FMR-1 gene in fragile X syndrome

21 January 2018

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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 January 2018

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Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

21 January 2018

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The epidemiology of mental retardation: challenges and opportunities in the new millennium

21 January 2018

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Fragile X and X-linked intellectual disability: four decades of discovery

21 January 2018

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Microdeletion and microduplication syndromes.

21 January 2018

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Genomic microarrays in human genetic disease and cancer

21 January 2018

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Diagnostic genome profiling in mental retardation

21 January 2018

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Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

21 January 2018

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Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

21 January 2018

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Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

21 January 2018

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A copy number variation morbidity map of developmental delay

21 January 2018

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Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

21 January 2018

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

21 January 2018

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

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Homozygosity mapping in outbred families with mental retardation

21 January 2018

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Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

21 January 2018

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Rare-disease genetics in the era of next-generation sequencing: discovery to translation

21 January 2018

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Resolving the paradox of common, harmful, heritable mental disorders: which evolutionary genetic models work best?

21 January 2018

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Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

21 January 2018

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De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment

21 January 2018

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De novo mutations in human genetic disease

21 January 2018

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De novo mutations in epileptic encephalopathies

21 January 2018

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De novo mutations in schizophrenia implicate synaptic networks

21 January 2018

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Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network

21 January 2018

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

21 January 2018

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

21 January 2018

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Exome sequencing supports a de novo mutational paradigm for schizophrenia.

21 January 2018

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De novo mutations in moderate or severe intellectual disability

21 January 2018

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

21 January 2018

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Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems

21 January 2018

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Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

21 January 2018

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Guidelines for investigating causality of sequence variants in human disease

21 January 2018

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Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease

21 January 2018

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A framework for the interpretation of de novo mutation in human disease

21 January 2018

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Refining analyses of copy number variation identifies specific genes associated with developmental delay

21 January 2018

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XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

21 January 2018

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Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

21 January 2018

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A genotype-first approach to defining the subtypes of a complex disease

21 January 2018

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21 January 2018

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Disruptive CHD8 mutations define a subtype of autism early in development

21 January 2018

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The quest for targeted therapy in fragile X syndrome.

21 January 2018

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Interpreting human genetic variation with in vivo zebrafish assays

21 January 2018

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100 years of Drosophila research and its impact on vertebrate neuroscience: a history lesson for the future

21 January 2018

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Human intellectual disability genes form conserved functional modules in Drosophila.

21 January 2018

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Drosophila models of early onset cognitive disorders and their clinical applications

21 January 2018

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Impact of induced pluripotent stem cells on the study of central nervous system disease

21 January 2018

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High-Throughput Silencing Using the CRISPR-Cas9 System: A Review of the Benefits and Challenges

21 January 2018

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A de novo convergence of autism genetics and molecular neuroscience

21 January 2018

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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

21 January 2018

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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

21 January 2018

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Genetic and epigenetic networks in intellectual disabilities.

21 January 2018

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Autism-associated neuroligin-3 mutations commonly impair striatal circuits to boost repetitive behaviors

21 January 2018

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Deregulated Ras signaling in developmental disorders: new tricks for an old dog.

21 January 2018

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Rho GTPase signaling at the synapse: implications for intellectual disability.

21 January 2018

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Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

21 January 2018

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The discovery of integrated gene networks for autism and related disorders

21 January 2018

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Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system

21 January 2018

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Prioritization of neurodevelopmental disease genes by discovery of new mutations

21 January 2018

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Epidemiological trends in rates of autism.

21 January 2018

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The role of de novo mutations in the genetics of autism spectrum disorders

21 January 2018

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Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

21 January 2018

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SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

21 January 2018

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

21 January 2018

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De novo mutations in HCN1 cause early infantile epileptic encephalopathy

21 January 2018

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Pathway-driven discovery of epilepsy genes.

21 January 2018

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Somatic mutation, genomic variation, and neurological disease

21 January 2018

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Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

21 January 2018

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Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

21 January 2018

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

21 January 2018

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Somatic mutations in cerebral cortical malformations

21 January 2018

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A mosaic activating mutation in AKT1 associated with the Proteus syndrome

21 January 2018

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Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain

21 January 2018

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Mosaic copy number variation in human neurons

21 January 2018

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Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

21 January 2018

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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

21 January 2018

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

21 January 2018

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

21 January 2018

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A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders

21 January 2018

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Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

21 January 2018

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An integrated encyclopedia of DNA elements in the human genome

21 January 2018

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Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

21 January 2018

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Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

21 January 2018

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A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

21 January 2018

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Structural variations, the regulatory landscape of the genome and their alteration in human disease

21 January 2018

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Next-generation sequencing: does the next generation still have a right to an open future?

21 January 2018

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Rate of de novo mutations and the importance of father's age to disease risk

21 January 2018

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New innovations: therapeutic opportunities for intellectual disabilities

21 January 2018

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KDM6A point mutations cause Kabuki syndrome

21 January 2018

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Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome

21 January 2018

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Genetic syndromes caused by mutations in epigenetic genes

21 January 2018

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The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders

21 January 2018

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GABAA receptor antagonism ameliorates behavioral and synaptic impairments associated with MeCP2 overexpression

21 January 2018

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A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome

21 January 2018

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Molecular basis for prospective pharmacological treatment strategies in intellectual disability syndromes

21 January 2018

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Subtle chromosomal rearrangements in children with unexplained mental retardation

21 January 2018

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Aetiology of mild mental retardation

21 January 2018

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Large-scale discovery of novel genetic causes of developmental disorders

21 January 2018

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Increased exonic de novo mutation rate in individuals with schizophrenia

31 March 2020

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31 March 2020

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The Catalogue of Somatic Mutations in Cancer (COSMIC)

31 March 2020

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Update on Kleefstra Syndrome

31 March 2020

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12 December 2020

Chromosomic diagnosis of mongolism

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12 December 2020

The recurrence risks for mild idiopathic mental retardation

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12 December 2020

A marker X chromosome

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12 December 2020

Identifiers

DOI

10.1038/NRG3999

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Dimensions Publication ID

4 September 2017

1003600258

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