(Q40145512)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

meta-analysis

0 references

title

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

0 references

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

Andrew McIntosh

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

Michael J. Gandal

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

Michael C O'Donovan

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

Jeffrey C Barrett

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

Tarjinder Singh

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

James Walters

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

Mandy Johnstone

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

David Curtis

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

Elliott Rees

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

Douglas Blackwood

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

Robin Murray

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

Elvira Bramon

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

Michael Owen

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

12

Daniel Geschwind

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

22

Patrick F Sullivan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

18

Pamela Sklar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

17

Christina M Hultman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

14

Marta Di Forti

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

8

Conrad Iyegbe

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

author name string

Minna Torniainen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

Georg Kirov

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

INTERVAL Study

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

UK10K Consortium

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

Aarno Palotie

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

language of work or name

English

0 references

publication date

26 June 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

volume

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

page(s)

1167-1173

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng.3903

23 March 2020

exact match

0 references

cites work

Prevalence and architecture of de novo mutations in developmental disorders

1 reference

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

17 June 2018

1 reference

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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

Analysis of protein-coding genetic variation in 60,706 humans

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

Schizophrenia risk from complex variation of complement component 4

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

New approaches to psychiatric diagnostic classification

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

The contribution of de novo coding mutations to autism spectrum disorder

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

Synaptic, transcriptional and chromatin genes disrupted in autism

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

A framework for the interpretation of de novo mutation in human disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

Biological insights from 108 schizophrenia-associated genetic loci

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

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

17 June 2018

1 reference

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Copy number variation in schizophrenia in Sweden

17 June 2018

1 reference

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

17 June 2018

1 reference

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A polygenic burden of rare disruptive mutations in schizophrenia

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

De novo mutations in schizophrenia implicate synaptic networks

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

Analysis of copy number variations at 15 schizophrenia-associated loci.

17 June 2018

1 reference

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CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

The penetrance of copy number variations for schizophrenia and developmental delay.

17 June 2018

1 reference

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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

17 June 2018

1 reference

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Definition and description of schizophrenia in the DSM-5

17 June 2018

1 reference

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Genotype-phenotype correlation in 22q11.2 deletion syndrome

17 June 2018

1 reference

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FMRP targets distinct mRNA sequence elements to regulate protein expression

17 June 2018

1 reference

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

17 June 2018

1 reference

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Neurodevelopmental model of schizophrenia: update 2012

17 June 2018

1 reference

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

17 June 2018

1 reference

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Exome sequencing supports a de novo mutational paradigm for schizophrenia.

17 June 2018

1 reference

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

Neurodevelopmental hypothesis of schizophrenia

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

Pooled association tests for rare variants in exon-resequencing studies

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

The dopamine hypothesis of schizophrenia: version III--the final common pathway

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

Rare chromosomal deletions and duplications increase risk of schizophrenia

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

'Pfropfschizophrenie' revisited. Schizophrenia in people with mild learning disability

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

Large-scale discovery of novel genetic causes of developmental disorders

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5533219

20 August 2018

1 reference

21 January 2018

1 reference

HITS-CLIP and integrative modeling define the Rbfox splicing-regulatory network linked to brain development and autism

21 January 2018

1 reference

‘Pfropfschizophrenie’ revisited

21 January 2018

1 reference

21 January 2018

1 reference

7 January 2021

inferred from DOI database lookup

Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection

1 reference

7 January 2021

inferred from DOI database lookup

Increased exonic de novo mutation rate in individuals with schizophrenia

1 reference

7 January 2021

inferred from DOI database lookup

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28650482

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/NG.3903

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

23 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28650482%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

1 reference