(Q33840498)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

title

Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

main subject

autism spectrum disorder

0 references

0 references

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Joon Yong An

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Alexandre S Cristino

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Qiong-Yi Zhao

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Janette Edson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Andrew Whitehouse

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

author name string

S M Williams

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

D Ravine

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

J Wray

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

V M Marshall

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

A Hunt

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

publication date

3 June 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

published in

Translational Psychiatry

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

page(s)

e394

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

19 March 2020

copyright license

start time

1 June 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

Cytoscape

1 reference

9 June 2022

https://europepmc.org/search?query=(METHODS:'Cytoscape')

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1038/tp.2014.38

0 references

cites work

A de novo convergence of autism genetics and molecular neuroscience

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

5 July 2018

1 reference

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Integrative functional genomic analyses implicate specific molecular pathways and circuits in 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=4080319

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of 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=4080319

Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating 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=4080319

Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

Transsynaptic coordination of synaptic growth, function, and stability by the L1-type CAM Neuroglian

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

Whole-genome sequencing in an autism multiplex family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

Behavior and sleep problems in children with a family history of 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=4080319

Autism spectrum disorder in the genetics clinic: a review.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

Using whole-exome sequencing to identify inherited causes of 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=4080319

Rare complete knockouts in humans: population distribution and significant role 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=4080319

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=4080319

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

Autism genetics: searching for specificity and convergence

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

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=4080319

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in 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=4080319

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=4080319

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=4080319

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=4080319

Genetic architecture in autism spectrum 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=4080319

Prevalence of autism spectrum disorders--Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

A systematic survey of loss-of-function variants in human protein-coding 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=4080319

Predicting the effects of frameshifting indels

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

Detecting false-positive signals in exome sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

miRdSNP: a database of disease-associated SNPs and microRNA target sites on 3'UTRs of human 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=4080319

A multisite study of the clinical diagnosis of different 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=4080319

Exome sequencing as a tool for Mendelian disease gene discovery

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

Genotype and SNP calling from next-generation 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=4080319

Exome sequencing in sporadic autism spectrum disorders identifies severe 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=4080319

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

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=4080319

Genetic basis of autism: is there a way forward?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

Neurexins, neuroligins and LRRTMs: synaptic adhesion getting fishy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

Cytoscape 2.8: new features for data integration and network visualization

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

miRBase: integrating microRNA annotation and deep-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=4080319

Defining the broader, medium and narrow autism phenotype among parents using the Autism Spectrum Quotient (AQ).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

The Genome Analysis Toolkit: A MapReduce framework for analyzing 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=4080319

ANNOVAR: functional annotation of genetic variants from high-throughput 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=4080319

BEDTools: a flexible suite of utilities for comparing genomic features

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

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=4080319

ClueGO: a Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

Neuroligins and neurexins link synaptic function to cognitive disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

Association of the neuronal cell adhesion molecule (NRCAM) gene variants 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=4080319

Defining key features of the broad autism phenotype: a comparison across parents of multiple- and single-incidence autism families

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

Most rare missense alleles are deleterious in humans: implications for complex disease and association 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=4080319

Neural recognition molecules of the immunoglobulin superfamily: signaling transducers of axon guidance and neuronal migration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

Fast and effective prediction of microRNA/target duplexes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

MicroRNA targets in Drosophila

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

The autism-spectrum quotient (AQ): evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of 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=4080319

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4080319

Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system

5 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FTP.2014.38

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTP.2014.38

Brief report: do the nature of communication impairments in autism spectrum disorders relate to the broader autism phenotype in parents?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTP.2014.38

Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTP.2014.38

A prospective study of autistic-like traits in unaffected siblings of probands with autism spectrum disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTP.2014.38

An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTP.2014.38

Association of the alpha4 integrin subunit gene (ITGA4) with autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTP.2014.38

Fine mapping and association studies in a candidate region for autism on chromosome 2q31-q32.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTP.2014.38

Pathological missense mutations of neural cell adhesion molecule L1 affect neurite outgrowth and branching on an L1 substrate

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24893065

12 December 2020

inferred from PubMed ID database lookup

Genome-wide identification of SNPs in microRNA genes and the SNP effects on microRNA target binding and biogenesis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24893065

12 December 2020

inferred from PubMed ID database lookup

Genetics of autism spectrum disorders

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24893065

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/TP.2014.38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

19 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

PubMed publication ID

24893065

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24893065%20AND%20SRC:MED&resulttype=core&format=json