(Q47138547)

9 January 2018

title

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders (English)

1 reference

9 January 2018

neurodevelopmental disorder

main subject

1 reference

1 reference

Dalila Pinto

11

0 references

Sten Linnarsson

12

Sten Linnarsson

1 reference

9 January 2018

17

Christina Hultman

1 reference

PMC publication ID

5738153

9 January 2018

Jens Hjerling-Leffler

15

Jens Hjerling-Leffler

1 reference

9 January 2018

Joseph Buxbaum

16

0 references

Ana Belén Muñoz-Manchado

6

Ana B Munoz-Manchado

1 reference

9 January 2018

Patrick F. Sullivan

22

Patrick F Sullivan

1 reference

9 January 2018

Julien Bryois

2

Julien Bryois

1 reference

9 January 2018

Pamela Sklar

18

Pamela Sklar

1 reference

9 January 2018

Matthijs Verhage

13

Matthijs Verhage

1 reference

9 January 2018

Joseph Buxbaum

16

Joseph D Buxbaum

1 reference

9 January 2018

Amanda Dobbyn

4

Amanda Dobbyn

1 reference

9 January 2018

23

Eli A Stahl

1 reference

9 January 2018

5

Laura M Huckins

1 reference

9 January 2018

Hoang T Nguyen

1

1 reference

9 January 2018

April Kim

3

1 reference

9 January 2018

Douglas M Ruderfer

7

1 reference

9 January 2018

Giulio Genovese

8

1 reference

9 January 2018

Menachem Fromer

9

1 reference

9 January 2018

Xinyi Xu

10

1 reference

9 January 2018

August B Smit

14

1 reference

9 January 2018

Shaun M Purcell

19

1 reference

9 January 2018

Kasper Lage

20

1 reference

9 January 2018

Xin He

21

1 reference

9 January 2018

publication date

20 December 2017

1 reference

9 January 2018

published in

Genome Medicine

1 reference

9 January 2018

volume

9

1 reference

9 January 2018

issue

1

1 reference

9 January 2018

page(s)

114

1 reference

9 January 2018

https://scigraph.springernature.com/pub.10.1186/s13073-017-0497-y

exact match

0 references

cites work

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Pooling across cells to normalize single-cell RNA sequencing data with many zero counts.

23 May 2018

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

23 May 2018

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De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia

23 May 2018

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23 May 2018

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Management of psychiatric and neurological comorbidities in epilepsy

23 May 2018

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Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease

23 May 2018

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23 May 2018

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An atlas of genetic correlations across human diseases and traits

23 May 2018

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Genetic research in autism spectrum disorders

23 May 2018

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Duplications in RB1CC1 are associated with schizophrenia; identification in large European sample sets.

23 May 2018

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

23 May 2018

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

23 May 2018

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

23 May 2018

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Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases

23 May 2018

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Genomic and network patterns of schizophrenia genetic variation in human evolutionary accelerated regions

23 May 2018

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23 May 2018

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23 May 2018

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Synaptic, transcriptional and chromatin genes disrupted in autism

23 May 2018

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De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

23 May 2018

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Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.

23 May 2018

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

23 May 2018

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Describing the genetic architecture of epilepsy through heritability analysis

23 May 2018

1 reference

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Biological insights from 108 schizophrenia-associated genetic loci

23 May 2018

1 reference

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Most genetic risk for autism resides with common variation

23 May 2018

1 reference

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Transcriptional landscape of the prenatal human brain

23 May 2018

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

23 May 2018

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The developmental transcriptome of the human brain: implications for neurodevelopmental disorders

23 May 2018

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A polygenic burden of rare disruptive mutations in schizophrenia

23 May 2018

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De novo mutations in schizophrenia implicate synaptic networks

23 May 2018

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Searching for missing heritability: designing rare variant association studies

23 May 2018

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

23 May 2018

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De novo mutations in epileptic encephalopathies

23 May 2018

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

23 May 2018

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CELF4 regulates translation and local abundance of a vast set of mRNAs, including genes associated with regulation of synaptic function

23 May 2018

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Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses

23 May 2018

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23 May 2018

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Allele-biased expression in differentiating human neurons: implications for neuropsychiatric disorders

23 May 2018

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23 May 2018

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23 May 2018

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

23 May 2018

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

23 May 2018

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A copy number variation morbidity map of developmental delay

23 May 2018

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

23 May 2018

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

23 May 2018

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Bayesian statistical methods for genetic association studies

23 May 2018

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Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

23 May 2018

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Common variants conferring risk of schizophrenia

23 May 2018

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

23 May 2018

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

23 May 2018

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Munc18-1 in secretion: lonely Munc joins SNARE team and takes control.

23 May 2018

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Munc18-1 expression levels control synapse recovery by regulating readily releasable pool size

23 May 2018

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23 May 2018

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Systematic discovery of regulatory motifs in human promoters and 3' UTRs by comparison of several mammals

23 May 2018

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Finding community structure in very large networks

23 May 2018

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

23 May 2018

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Synaptic assembly of the brain in the absence of neurotransmitter secretion

23 May 2018

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

23 May 2018

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KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel

23 May 2018

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Importance of the intracellular domain of NR2 subunits for NMDA receptor function in vivo

23 May 2018

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Impaired spatial learning in alpha-calcium-calmodulin kinase II mutant mice

23 May 2018

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De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

23 May 2018

1 reference

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Truncating mutations in RBM12 are associated with psychosis

15 August 2018

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De Novo Coding Variants Are Strongly Associated with Tourette Disorder

15 August 2018

1 reference

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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

15 August 2018

1 reference

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Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

15 August 2018

1 reference

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Large-scale discovery of novel genetic causes of developmental disorders

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5738153

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5738153

Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5738153

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5738153

Detecting differential gene expression with a semiparametric hierarchical mixture method

15 August 2018

1 reference

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Genetic and pharmacological evidence for a novel, intermediate phase of long-term potentiation suppressed by calcineurin.

15 August 2018

1 reference

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The Proof and Measurement of Association between Two Things

15 August 2018

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On the Interpretation of χ 2 from Contingency Tables, and the Calculation of P

21 January 2018

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29262854

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic identification of brain cell types underlying schizophrenia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29262854

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13073-017-0497-Y

1 reference

9 January 2018

Dimensions Publication ID

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/s13073-017-0497-y

PMC publication ID

5738153

1 reference

9 January 2018

PubMed publication ID

29262854

1 reference

9 January 2018