(Q36815646)

16 August 2017

Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database (English)

1 reference

16 August 2017

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Chunyu Liu

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Zhong Sheng Sun

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Zhongsheng Sun

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

author name string

Jinchen Li

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Yi Jiang

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Huiqian Chen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Xin He

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Chao Chen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Xianfeng Li

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Qianzhi Shao

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Xia Ran

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Zhongshan Li

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Kun Xia

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Jinyu Wu

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

language of work or name

English

0 references

publication date

7 April 2015

1 reference

16 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

page(s)

290-297

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/mp.2015.40

8 June 2020

exact match

0 references

cites work

The discovery of integrated gene networks for autism and related disorders

1 reference

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The contribution of de novo coding mutations to autism spectrum disorder

29 September 2017

1 reference

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Synaptic, transcriptional and chromatin genes disrupted in autism

29 September 2017

1 reference

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

29 September 2017

1 reference

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Disruptive CHD8 mutations define a subtype of autism early in development

29 September 2017

1 reference

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Brain-specific knockdown of miR-29 results in neuronal cell death and ataxia in mice

29 September 2017

1 reference

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Serotonin-prefrontal cortical circuitry in anxiety and depression phenotypes: pivotal role of pre- and post-synaptic 5-HT1A receptor expression

29 September 2017

1 reference

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One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.

29 September 2017

1 reference

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Prioritization of neurodevelopmental disease genes by discovery of new mutations

29 September 2017

1 reference

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

29 September 2017

1 reference

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Guidelines for investigating causality of sequence variants in human disease

29 September 2017

1 reference

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Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

29 September 2017

1 reference

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Transcriptional landscape of the prenatal human brain

29 September 2017

1 reference

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Micro spies from the brain to the periphery: new clues from studies on microRNAs in neuropsychiatric disorders

29 September 2017

1 reference

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

29 September 2017

1 reference

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29 September 2017

1 reference

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De novo mutations in schizophrenia implicate synaptic networks

29 September 2017

1 reference

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

29 September 2017

1 reference

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A de novo convergence of autism genetics and molecular neuroscience

29 September 2017

1 reference

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GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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The enhancer landscape during early neocortical development reveals patterns of dense regulation and co-option

29 September 2017

1 reference

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De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder

29 September 2017

1 reference

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

29 September 2017

1 reference

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De novo mutations in epileptic encephalopathies

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations

29 September 2017

1 reference

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Sequencing studies in human genetics: design and interpretation.

29 September 2017

1 reference

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

29 September 2017

1 reference

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WEB-based GEne SeT AnaLysis Toolkit (WebGestalt): update 2013

29 September 2017

1 reference

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Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

29 September 2017

1 reference

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Using whole-exome sequencing to identify inherited causes of autism

29 September 2017

1 reference

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Activity-dependent neuronal signalling and autism spectrum disorder

29 September 2017

1 reference

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

29 September 2017

1 reference

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Allen Brain Atlas: an integrated spatio-temporal portal for exploring the central nervous system

29 September 2017

1 reference

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Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

29 September 2017

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

Systematic localization of common disease-associated variation in regulatory DNA

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

De novo mutations in human genetic disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

De Novo Gene Disruptions in Children on the Autistic Spectrum

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

MicroRNA dysregulation in neuropsychiatric disorders and cognitive dysfunction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

A high-resolution map of human evolutionary constraint using 29 mammals

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

Exome sequencing as a tool for Mendelian disease gene discovery

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

Predicting the functional impact of protein mutations: application to cancer genomics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

MutationTaster evaluates disease-causing potential of sequence alterations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

A method and server for predicting damaging missense mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

Detection of nonneutral substitution rates on mammalian phylogenies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

Evolution of the neocortex: a perspective from developmental biology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

Identification of deleterious mutations within three human genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

Identifying novel constrained elements by exploiting biased substitution patterns

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

The distribution of fitness effects of new mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

A microRNA array reveals extensive regulation of microRNAs during brain development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

The origins, patterns and implications of human spontaneous mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

Diagnostic exome sequencing in persons with severe intellectual disability

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4837654

5 September 2018

Identifiers

DOI

10.1038/MP.2015.40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25849321%20AND%20SRC:MED&resulttype=core&format=json