(Q47863557)

15 June 2018

title

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes. (English)

1 reference

15 June 2018

neurodevelopmental disorder

main subject

1 reference

3

1 reference

15 June 2018

Laurens Wiel

Laurens Wiel

2

0 references

Joris A Veltman

Joris A Veltman

6

0 references

Han G. Brunner

7

Han G Brunner

1 reference

15 June 2018

Lisenka Vissers

8

Lisenka E L M Vissers

1 reference

15 June 2018

author name string

Stefan H Lelieveld

1

1 reference

15 June 2018

Rolph Pfundt

4

1 reference

15 June 2018

Gerrit Vriend

5

1 reference

15 June 2018

Christian Gilissen

9

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15 June 2018

language of work or name

English

0 references

publication date

31 August 2017

1 reference

15 June 2018

American Journal of Human Genetics

published in

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15 June 2018

volume

101

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15 June 2018

page(s)

478-484

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15 June 2018

issue

3

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15 June 2018

Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation

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Prevalence and architecture of de novo mutations in developmental disorders

16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

16 June 2018

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Mutations in HECW2 are associated with intellectual disability and epilepsy

16 June 2018

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Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment

16 June 2018

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Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.

16 June 2018

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16 June 2018

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Comprehensive assessment of cancer missense mutation clustering in protein structures

16 June 2018

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

16 June 2018

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Excess of rare, inherited truncating mutations in autism

16 June 2018

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Toward understanding the role of the neuron-specific BAF chromatin remodeling complex in memory formation.

16 June 2018

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The contribution of de novo coding mutations to autism spectrum disorder

16 June 2018

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Prioritizing genes for X-linked diseases using population exome data

16 June 2018

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

16 June 2018

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Genome sequencing identifies major causes of severe intellectual disability

16 June 2018

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Status quo of annotation of human disease variants.

16 June 2018

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GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

16 June 2018

1 reference

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

16 June 2018

1 reference

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

16 June 2018

1 reference

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GENCODE: the reference human genome annotation for The ENCODE Project

16 June 2018

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

Variation in genome-wide mutation rates within and between human families

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

Characterising and predicting haploinsufficiency in the human genome.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

Dendritic assembly of heteromeric gamma-aminobutyric acid type B receptor subunits in hippocampal neurons

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

Loss of protein structure stability as a major causative factor in monogenic disease.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

Brain-specific expression of the nuclear actin-related protein ArpNalpha and its involvement in mammalian SWI/SNF chromatin remodeling complex

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

Increasing the precision of comparative models with YASARA NOVA-a self-parameterizing force field

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

GABA(B) receptors function as a heteromeric assembly of the subunits GABA(B)R1 and GABA(B)R2.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

The molecular basis of genetic dominance

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

WHAT IF: a molecular modeling and drug design program

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

Accurate prediction of the stability and activity effects of site-directed mutagenesis on a protein core

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

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

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

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

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

Large-scale discovery of novel genetic causes of developmental disorders

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

Diagnostic exome sequencing in persons with severe intellectual disability

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

Missing heritability: paternal age effect mutations and selfish spermatogonia

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591029

GABA(B2) is essential for g-protein coupling of the GABA(B) receptor heterodimer

29 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28867141

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2017.08.004

1 reference

15 June 2018

PMCID

5591029

1 reference

15 June 2018

PubMed ID

28867141

1 reference

15 June 2018