Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders (Q42623377)

3 November 2017

title

Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders (English)

1 reference

3 November 2017

main subject

autism spectrum disorder

0 references

0 references

1 reference

9

1 reference

3 November 2017

10

1 reference

3 November 2017

11

1 reference

3 November 2017

12

1 reference

3 November 2017

13

1 reference

3 November 2017

14

1 reference

3 November 2017

15

1 reference

3 November 2017

S Ennis

8

0 references

Elizabeth A Heron

object named as

E Heron

4

0 references

author name string

E M Kenny

1

1 reference

3 November 2017

P Cormican

2

1 reference

3 November 2017

S Furlong

3

1 reference

3 November 2017

G Kenny

5

1 reference

3 November 2017

C Fahey

6

1 reference

3 November 2017

E Kelleher

7

1 reference

3 November 2017

language of work or name

English

0 references

publication date

15 October 2013

1 reference

3 November 2017

number of pages

8

1 reference

inferred from page(s)

published in

Molecular Psychiatry

1 reference

3 November 2017

volume

19

1 reference

3 November 2017

issue

8

1 reference

3 November 2017

page(s)

872-879

1 reference

Twin studies of schizophrenia: from bow-and-arrow concordances to star wars Mx and functional genomics

3 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

The genetics of autistic disorders and its clinical relevance: a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

11-year follow-up of mortality in patients with schizophrenia: a population-based cohort study (FIN11 study).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Epidemiology of Pervasive Developmental Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Prevalence of autism-spectrum conditions: UK school-based population study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Autism spectrum disorder diagnoses in Stockholm preschoolers

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Data and clinical utility should be the drivers of changes to psychiatric classification

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Family history of schizophrenia and bipolar disorder as risk factors for autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Is schizophrenia on the autism spectrum?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Rare chromosomal deletions and duplications increase risk of schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Large recurrent microdeletions associated with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Association between microdeletion and microduplication at 16p11.2 and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Microduplications of 16p11.2 are associated with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Functional impact of global rare copy number variation in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Copy number variations of chromosome 16p13.1 region associated with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

A copy number variation morbidity map of developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

CNVs: harbingers of a rare variant revolution in psychiatric genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Disruption of neurexin 1 associated with autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Recurrent CNVs disrupt three candidate genes in schizophrenia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

The role of neurexins in schizophrenia and autistic spectrum disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

High frequencies of de novo CNVs in bipolar disorder and schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Functional gene group analysis identifies synaptic gene groups as risk factor for schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Genomic convergence analysis of schizophrenia: mRNA sequencing reveals altered synaptic vesicular transport in post-mortem cerebellum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

A population genetic approach to mapping neurological disorder genes using deep resequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Sequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a northern Swedish population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Multiplex target enrichment using DNA indexing for ultra-high throughput SNP detection

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Influence of NOS1 on verbal intelligence and working memory in both patients with schizophrenia and healthy control subjects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Lack of association between markers in the ITGA3, ITGAV, ITGA6 and ITGB3 and autism in an Irish sample

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Proteomic analysis of NMDA receptor-adhesion protein signaling complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

The role of neuronal complexes in human X-linked brain diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

A systematic survey of loss-of-function variants in human protein-coding genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

CIPP, a novel multivalent PDZ domain protein, selectively interacts with Kir4.0 family members, NMDA receptor subunits, neurexins, and neuroligins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

The neuronal proteins CIPP, Cypin and IRSp53 form a tripartite complex mediated by PDZ and SH3 domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Regulation of NMDA receptors by the tyrosine kinase Fyn

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Impaired long-term potentiation, spatial learning, and hippocampal development in fyn mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

NCAM-dependent neurite outgrowth is inhibited in neurons from Fyn-minus mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

NMDA receptor GluN2B (GluR epsilon 2/NR2B) subunit is crucial for channel function, postsynaptic macromolecular organization, and actin cytoskeleton at hippocampal CA3 synapses

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Genetic enhancement of learning and memory in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Genetic enhancement of memory and long-term potentiation but not CA1 long-term depression in NR2B transgenic rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Structure and potential function of gamma-aminobutyrate type A receptor-associated protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

par-1, a gene required for establishing polarity in C. elegans embryos, encodes a putative Ser/Thr kinase that is asymmetrically distributed

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Plakins in development and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Identification of loci associated with schizophrenia by genome-wide association and follow-up

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Knockdown of the psychosis susceptibility gene ZNF804A alters expression of genes involved in cell adhesion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

Bias due to selection of rare variants using frequency in controls.

21 January 2018

1 reference

12 December 2020

Increased exonic de novo mutation rate in individuals with schizophrenia

1 reference

12 December 2020

Disruption of the neurexin 1 gene is associated with schizophrenia

1 reference

12 December 2020

Fyn tyrosine kinase is required for normal amygdala kindling

1 reference

12 December 2020

Protein interactome reveals converging molecular pathways among autism disorders

1 reference

12 December 2020

Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration

1 reference

12 December 2020

Defining rare variants by their frequencies in controls may increase type I error

1 reference

12 December 2020

2-year-old boy who has been diagnosed with autism

1 reference

https://api.crossref.org/works/10.1038%2FMP.2013.127

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/MP.2013.127

1 reference

3 November 2017

1 reference