(Q30454132)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

0 references

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Shawn Levy

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

2

Iuliana Ionita-Laza

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

8

Joseph A Gogos

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

author name string

Bin Xu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Braden Boone

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Scarlet Woodrick

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Yan Sun

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Maria Karayiorgou

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

language of work or name

English

0 references

publication date

3 October 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

volume

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

page(s)

1365-1369

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json

The best of times, the worst of times for psychiatric disease

10 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

De Novo Gene Disruptions in Children on the Autistic Spectrum

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

High frequencies of de novo CNVs in bipolar disorder and schizophrenia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Genetic and cognitive windows into circuit mechanisms of psychiatric disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Cognition in schizophrenia: core psychological and neural mechanisms

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

The Genetic Architecture of Schizophrenia: New Mutations and Emerging Paradigms

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Temporal dynamics and genetic control of transcription in the human prefrontal cortex

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Spatio-temporal transcriptome of the human brain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Genome-wide association study identifies five new schizophrenia loci

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Beta-alanine as a small molecule neurotransmitter.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

A method and server for predicting damaging missense mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

New directions in the epidemiology of schizophrenia.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Strong association of de novo copy number mutations with sporadic schizophrenia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Thrombospondins are astrocyte-secreted proteins that promote CNS synaptogenesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

A comparison study of early non-psychotic deviant behavior in Afrikaner and US patients with schizophrenia or schizoaffective disorder

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Essential role of alpha 6 integrins in cortical and retinal lamination

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Amino acid difference formula to help explain protein evolution

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556813

Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2446

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2446

Increased exonic de novo mutation rate in individuals with schizophrenia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23042115

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.2446

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

PubMed publication ID

23042115

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23042115%20AND%20SRC:MED&resulttype=core&format=json