Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease (Q44731605)

5 December 2017

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

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5 December 2017

2

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5 December 2017

4

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5 December 2017

Jacob Gratten

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author name string

Bryan J Mowry

series ordinal

3

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PubMed ID

23438595

5 December 2017

language of work or name

English

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publication date

1 March 2013

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5 December 2017

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5 December 2017

45

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5 December 2017

234-238

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5 December 2017

3

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https://scigraph.springernature.com/pub.10.1038/ng.2555

5 December 2017

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cites work

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

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

21 January 2018

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

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

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A de novo paradigm for mental retardation.

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

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Exome sequencing supports a de novo mutational paradigm for schizophrenia.

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

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Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

21 January 2018

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

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The causality of de novo copy number variants is overestimated

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Exome sequencing as a tool for Mendelian disease gene discovery

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A map of human genome variation from population-scale sequencing

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Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

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An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

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Evolution and functional impact of rare coding variation from deep sequencing of human exomes

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Carrier testing for severe childhood recessive diseases by next-generation sequencing

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A systematic survey of loss-of-function variants in human protein-coding genes

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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

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Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

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Common genetic variants on 5p14.1 associate with autism spectrum disorders

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Genetic architectures of psychiatric disorders: the emerging picture and its implications

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

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Variation in the mutation rate across mammalian genomes

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Cryptic variation in the human mutation rate

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Transcription-associated mutational asymmetry in mammalian evolution

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Exome sequencing and the genetic basis of complex traits

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Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia

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Penetrance for copy number variants associated with schizophrenia.

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A unified genetic theory for sporadic and inherited autism

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Schizophrenia: a common disease caused by multiple rare alleles

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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood

21 January 2018

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Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study

21 January 2018

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Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

21 January 2018

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Clinical application of exome sequencing in undiagnosed genetic conditions

21 January 2018

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Schizophrenia genetics: where next?

21 January 2018

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21 January 2018

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Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies

21 January 2018

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An integrated encyclopedia of DNA elements in the human genome

21 January 2018

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Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.

21 January 2018

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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

21 January 2018

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Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

21 January 2018

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Increased exonic de novo mutation rate in individuals with schizophrenia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23438595

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.2555

1 reference

release_dgbjvj6c5rchppo6wqi4kvxpla

5 December 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/dgbjvj6c5rchppo6wqi4kvxpla

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

23438595

1 reference

PubMed ID

23438595