(Q46033466)

8 January 2018

title

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. (English)

1 reference

8 January 2018

neurodevelopmental disorder

main subject

1 reference

18

1 reference

18 December 2017

Corrado Romano

33

1 reference

18 December 2017

Frank Kooy

34

1 reference

18 December 2017

Jozef Gécz

37

1 reference

18 December 2017

Gabriel Heymann

Gabriel Heymann

2

0 references

Tychele N Turner

Tychele N Turner

5

0 references

Larry S Zweifel

Larry S Zweifel

39

0 references

Jacob J Michaelson

Jacob J Michaelson

27

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Magnus Nordenskjöld

Magnus Nordenskjöld

36

0 references

Karen Pierce

25

Karen Pierce

1 reference

8 January 2018

17

Ann Nordgren

1 reference

8 January 2018

32

Eric Courchesne

1 reference

8 January 2018

31

Hakon Hakonarson

1 reference

8 January 2018

Evan E. Eichler

40

Evan E Eichler

1 reference

8 January 2018

Emanuela Avola

21

Emanuela Avola

1 reference

8 January 2018

23

Stefania Giusto

1 reference

8 January 2018

26

Srinivasa Nalabolu

1 reference

8 January 2018

PMCID

5539915

Madeleine R Geisheker

1

Madeleine R Geisheker

1 reference

8 January 2018

29

Gijs W E Santen

1 reference

8 January 2018

22

Mirella Vinci

1 reference

8 January 2018

19

Geert Vandeweyer

1 reference

8 January 2018

11

Jan Liebelt

1 reference

8 January 2018

Tianyun Wang

3

1 reference

8 January 2018

Bradley P Coe

4

1 reference

8 January 2018

Holly A F Stessman

6

1 reference

8 January 2018

Kendra Hoekzema

7

1 reference

8 January 2018

Malin Kvarnung

8

1 reference

8 January 2018

Marie Shaw

9

1 reference

8 January 2018

Kathryn Friend

10

1 reference

8 January 2018

Christopher Barnett

12

1 reference

8 January 2018

Elizabeth M Thompson

13

1 reference

8 January 2018

Eric Haan

14

1 reference

8 January 2018

Hui Guo

15

1 reference

8 January 2018

Britt-Marie Anderlid

16

1 reference

8 January 2018

Antonino Alberti

20

1 reference

8 January 2018

Tiziano Pramparo

24

1 reference

8 January 2018

Zdenek Sedlacek

28

1 reference

8 January 2018

Hilde Peeters

30

1 reference

8 January 2018

Raphael A Bernier

35

1 reference

8 January 2018

Kun Xia

38

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8 January 2018

language of work or name

English

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publication date

19 June 2017

1 reference

8 January 2018

published in

Nature Neuroscience

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8 January 2018

volume

20

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8 January 2018

issue

8

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8 January 2018

page(s)

1043-1051

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8 January 2018

https://scigraph.springernature.com/pub.10.1038/nn.4589

exact match

0 references

cites work

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Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

24 May 2018

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Whole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation Pathways to Autism Spectrum Disorders

24 May 2018

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Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

24 May 2018

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De novo mutations from sporadic schizophrenia cases highlight important signaling genes in an independent sample

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24 May 2018

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

24 May 2018

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Whole-genome sequencing of quartet families with autism spectrum disorder

24 May 2018

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Recurrent de novo mutations implicate novel genes underlying simplex autism risk

24 May 2018

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The contribution of de novo coding mutations to autism spectrum disorder

24 May 2018

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Synaptic, transcriptional and chromatin genes disrupted in autism

24 May 2018

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

24 May 2018

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Disruptive CHD8 mutations define a subtype of autism early in development

24 May 2018

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Whole-genome sequence variation, population structure and demographic history of the Dutch population

24 May 2018

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Multiple evidence strands suggest that there may be as few as 19,000 human protein-coding genes

24 May 2018

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24 May 2018

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

24 May 2018

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De novo SCN2A splice site mutation in a boy with Autism spectrum disorder

24 May 2018

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Genetic aspects of autism spectrum disorders: insights from animal models

24 May 2018

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24 May 2018

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24 May 2018

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Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation

24 May 2018

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

24 May 2018

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De novo mutations in schizophrenia implicate synaptic networks

24 May 2018

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

24 May 2018

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The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes

24 May 2018

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De novo mutations in epileptic encephalopathies

24 May 2018

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

24 May 2018

1 reference

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

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

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24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

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

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

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

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

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

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

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24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

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

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

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

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

SynaptomeDB: an ontology-based knowledgebase for synaptic genes

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Rate, molecular spectrum, and consequences of human mutation

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Targeted capture and massively parallel sequencing of 12 human exomes

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Fast and accurate short read alignment with Burrows-Wheeler transform

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Death and survival of heterozygous Lurcher Purkinje cells in vitro

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Synaptic AMPA receptor plasticity and behavior.

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Mice lacking the AMPA GluR1 receptor exhibit striatal hyperdopaminergia and 'schizophrenia-related' behaviors

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Neuroligins determine synapse maturation and function

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Conserved structural and functional control of N-methyl-D-aspartate receptor gating by transmembrane domain M3.

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Impaired regulation of synaptic strength in hippocampal neurons from GluR1-deficient mice

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Mutation of a glutamate receptor motif reveals its role in gating and delta2 receptor channel properties.

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

DSM-5 and psychiatric genetics - round hole, meet square peg.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Large-scale discovery of novel genetic causes of developmental disorders

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Diagnostic exome sequencing in persons with severe intellectual disability

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Effects of the lurcher mutation on GluR1 desensitization and activation kinetics.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

Neurodegeneration in Lurcher mice caused by mutation in delta2 glutamate receptor gene.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5539915

A new growth deficiency syndrome

15 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNN.4589

inferred from DOI database lookup

7 January 2021

based on heuristic

The Lurcher mutation of an alpha-amino-3-hydroxy-5-methyl- 4-isoxazolepropionic acid receptor subunit enhances potency of glutamate and converts an antagonist to an agonist

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNN.4589

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NN.4589

1 reference

8 January 2018

PMCID

5539915

1 reference

8 January 2018

PubMed ID

28628100

1 reference

8 January 2018