A polygenic burden of rare disruptive mutations in schizophrenia (Q34060200)

30 July 2017

A polygenic burden of rare disruptive mutations in schizophrenia (English)

1 reference

30 July 2017

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31

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26

Stacey Gabriel

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30 July 2017

28

Eric S Lander

1 reference

30 July 2017

Stephen J Haggarty

25

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Sarah E Bergen

Sarah E Bergen

9

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Douglas M. Ruderfer

Douglas Ruderfer

4

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Jennifer L. Moran

Jennifer L Moran

2

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Jyoti Choudhary

Jyoti S Choudhary

17

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Patrik K E Magnusson

Patrik K E Magnusson

18

0 references

Christina M. Hultman

29

Christina M Hultman

1 reference

30 July 2017

30

Patrick F Sullivan

1 reference

30 July 2017

32

Pamela Sklar

1 reference

30 July 2017

Shaun M Purcell

1

1 reference

30 July 2017

Menachem Fromer

3

1 reference

30 July 2017

Nadia Solovieff

5

1 reference

30 July 2017

Panos Roussos

6

1 reference

30 July 2017

Colm O'Dushlaine

7

1 reference

30 July 2017

Kimberly Chambert

8

1 reference

30 July 2017

Anna Kähler

10

1 reference

30 July 2017

Laramie Duncan

11

1 reference

30 July 2017

Eli Stahl

12

1 reference

30 July 2017

Giulio Genovese

13

1 reference

30 July 2017

Esperanza Fernández

14

1 reference

30 July 2017

Mark O Collins

15

1 reference

30 July 2017

Noboru H Komiyama

16

1 reference

30 July 2017

Eric Banks

19

1 reference

30 July 2017

Khalid Shakir

20

1 reference

30 July 2017

Kiran Garimella

21

1 reference

30 July 2017

Tim Fennell

22

1 reference

30 July 2017

Mark DePristo

23

1 reference

30 July 2017

Seth G N Grant

24

1 reference

30 July 2017

Edward M Scolnick

27

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30 July 2017

language of work or name

English

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publication date

22 January 2014

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30 July 2017

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30 July 2017

506

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185-190

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30 July 2017

7487

1 reference

https://scigraph.springernature.com/pub.10.1038/nature12975

30 July 2017

0 references

cites work

De novo mutations in schizophrenia implicate synaptic networks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

A population-specific uncommon variant in GRIN3A associated with schizophrenia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Synaptic scaffold evolution generated components of vertebrate cognitive complexity.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Exome sequencing and the genetic basis of complex traits

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Recent explosive human population growth has resulted in an excess of rare genetic variants

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

De Novo Gene Disruptions in Children on the Autistic Spectrum

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Deep resequencing and association analysis of schizophrenia candidate genes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

CNVs: harbingers of a rare variant revolution in psychiatric genetics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Genome-wide association study identifies five new schizophrenia loci

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Rare-variant association testing for sequencing data with the sequence kernel association test

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

A framework for variation discovery and genotyping using next-generation DNA sequencing data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Heads-up: new roles for the fragile X mental retardation protein in neural stem and progenitor cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Characterization of the proteome, diseases and evolution of the human postsynaptic density.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Increased levels of kynurenine and kynurenic acid in the CSF of patients with schizophrenia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Quantitative proteomics of the Cav2 channel nano-environments in the mammalian brain.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Targeted tandem affinity purification of PSD-95 recovers core postsynaptic complexes and schizophrenia susceptibility proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Fast and accurate short read alignment with Burrows-Wheeler transform

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Rare chromosomal deletions and duplications increase risk of schizophrenia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

SynGAP regulates ERK/MAPK signaling, synaptic plasticity, and learning in the complex with postsynaptic density 95 and NMDA receptor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Selective targeting of newly synthesized Arc mRNA to active synapses requires NMDA receptor activation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Enhanced long-term potentiation and impaired learning in mice with mutant postsynaptic density-95 protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Calcium oscillations increase the efficiency and specificity of gene expression

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Diagnostic exome sequencing in persons with severe intellectual disability

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Plasticity of calcium channels in dendritic spines.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Arg3.1/Arc mRNA induction by Ca2+ and cAMP requires protein kinase A and mitogen-activated protein kinase/extracellular regulated kinase activation.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Support for the N -Methyl-D-Aspartate Receptor Hypofunction Hypothesis of Schizophrenia From Exome Sequencing in Multiplex Families

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136494

Increased exonic de novo mutation rate in individuals with schizophrenia

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24463508

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE12975

inferred from DOI database lookup

7 January 2021

based on heuristic

FMRP targets distinct mRNA sequence elements to regulate protein expression

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE12975

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NATURE12975

1 reference

30 July 2017

1 reference

30 July 2017

1 reference