(Q33830995)

29 July 2017

title

Prioritization of neurodevelopmental disease genes by discovery of new mutations (English)

1 reference

neurodevelopmental disorder

29 July 2017

main subject

1 reference

1 reference

Alexander Hoischen

1 reference

29 July 2017

Evan E Eichler

1 reference

29 July 2017

Niklas Krumm

1 reference

29 July 2017

language of work or name

English

0 references

publication date

27 May 2014

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29 July 2017

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29 July 2017

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29 July 2017

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29 July 2017

page(s)

764-772

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

29 July 2017

cites work

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4 July 2018

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A general framework for estimating the relative pathogenicity of human genetic variants

4 July 2018

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A polygenic burden of rare disruptive mutations in schizophrenia

4 July 2018

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De novo mutations in schizophrenia implicate synaptic networks

4 July 2018

1 reference

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A comprehensive assessment of parental age and psychiatric disorders

4 July 2018

1 reference

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CNVs conferring risk of autism or schizophrenia affect cognition in controls

4 July 2018

1 reference

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Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism

4 July 2018

1 reference

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Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism

4 July 2018

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Integrative annotation of variants from 1092 humans: application to cancer genomics

4 July 2018

1 reference

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

4 July 2018

1 reference

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Clinical significance of de novo and inherited copy-number variation

4 July 2018

1 reference

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Transmission disequilibrium of small CNVs in simplex autism

4 July 2018

1 reference

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Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes

4 July 2018

1 reference

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Signatures of mutational processes in human cancer

4 July 2018

1 reference

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De novo mutations in epileptic encephalopathies

4 July 2018

1 reference

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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

4 July 2018

1 reference

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

4 July 2018

1 reference

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Genetics. Genome mosaicism--one human, multiple genomes

4 July 2018

1 reference

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Somatic SETBP1 mutations in myeloid malignancies

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Identifying Mendelian disease genes with the variant effect scoring tool

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

De novo mutations in histone-modifying genes in congenital heart disease.

4 July 2018

1 reference

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A systematic genome-wide analysis of zebrafish protein-coding gene function

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

From neural development to cognition: unexpected roles for chromatin

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Using population admixture to help complete maps of the human genome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Using whole-exome sequencing to identify inherited causes of autism

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Recurrent SETBP1 mutations in atypical chronic myeloid leukemia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Common genetic variants, acting additively, are a major source of risk for autism

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

De novo mutations in human genetic disease

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

De Novo Gene Disruptions in Children on the Autistic Spectrum

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Digital RNA sequencing minimizes sequence-dependent bias and amplification noise with optimized single-molecule barcodes

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

NOTCH2 mutations in Alagille syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Detection of structural variants and indels within exome data

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Mutations in EZH2 cause Weaver syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

A copy number variation morbidity map of developmental delay

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

A conditional knockout resource for the genome-wide study of mouse gene function

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Hallmarks of Cancer: The Next Generation

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Diversity of human copy number variation and multicopy genes

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Characterising and predicting haploinsufficiency in the human genome.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

International network of cancer genome projects

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

FlyBase: enhancing Drosophila Gene Ontology annotations

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Large recurrent microdeletions associated with schizophrenia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Identifying autism loci and genes by tracing recent shared ancestry

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Patterns of somatic mutation in human cancer genomes

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Noonan syndrome and related disorders: genetics and pathogenesis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Advancing paternal age and the risk of schizophrenia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

minibrain: a new protein kinase family involved in postembryonic neurogenesis in Drosophila

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

Diagnostic exome sequencing in persons with severe intellectual disability

4 July 2018

1 reference

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

21 January 2018

1 reference

Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis

21 January 2018

1 reference

Activity-dependent neuroprotective protein snippet NAP reduces tau hyperphosphorylation and enhances learning in a novel transgenic mouse model.

21 January 2018

1 reference

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

21 January 2018

1 reference

New brain-specific beta-synuclein isoforms show expression ratio changes in Lewy body diseases.

21 January 2018

1 reference

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

21 January 2018

1 reference

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

21 January 2018

1 reference

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

21 January 2018

1 reference

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4077789

29 October 2018

Identifiers

DOI

10.1038/NN.3703

1 reference

29 July 2017

1 reference

29 July 2017

1 reference