(Q35043091)

6 August 2017

title

Performance of case-control rare copy number variation annotation in classification of autism (English)

1 reference

6 August 2017

0 references

4

Stephen W Scherer

1 reference

6 August 2017

Kiret Dhindsa

2

0 references

Daniele Merico

series ordinal

6

object named as

Daniele Merico

1 reference

6 August 2017

3

Anath C Lionel

1 reference

6 August 2017

1

Worrawat Engchuan

1 reference

6 August 2017

Jonathan H Chan

5

1 reference

6 August 2017

publication date

15 January 2015

1 reference

6 August 2017

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6 August 2017

volume

8 Suppl 1

1 reference

6 August 2017

page(s)

S7

1 reference

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

6 August 2017

cites work

1 reference

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A polygenic burden of rare disruptive mutations in schizophrenia

8 July 2018

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8 July 2018

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8 July 2018

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Data, information, knowledge and principle: back to metabolism in KEGG

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Annotating cancer variants and anti-cancer therapeutics in reactome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Genic intolerance to functional variation and the interpretation of personal genomes

8 July 2018

1 reference

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Identification of candidate intergenic risk loci in autism spectrum disorder

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Using whole-exome sequencing to identify inherited causes of autism

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

FMRP targets distinct mRNA sequence elements to regulate protein expression

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

De Novo Gene Disruptions in Children on the Autistic Spectrum

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Global prevalence of autism and other pervasive developmental disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Genetic architecture in autism spectrum disorder

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Genotype-environment interactions in microsatellite stable/microsatellite instability-low colorectal cancer: results from a genome-wide association study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Reactome: a database of reactions, pathways and biological processes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Characterising and predicting haploinsufficiency in the human genome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Accurate distinction of pathogenic from benign CNVs in mental retardation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

A genome-wide association study of alcohol dependence

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Forging links between human mental retardation-associated CNVs and mouse gene knockout models

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

PID: the Pathway Interaction Database

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Structural variation of chromosomes in autism spectrum disorder

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Bias in random forest variable importance measures: illustrations, sources and a solution

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Feature selection based on mutual information: criteria of max-dependency, max-relevance, and min-redundancy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

A gene atlas of the mouse and human protein-encoding transcriptomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Gene ontology: tool for the unification of biology

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

KEGG: kyoto encyclopedia of genes and genomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Autism diagnostic observation schedule: a standardized observation of communicative and social behavior

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4315323

Autism recurrence in half siblings: strong support for genetic mechanisms of transmission in ASD.

8 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-8-S1-S7

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-8-S1-S7

Identifying Important Risk Factors for Survival in Kidney Graft Failure Patients Using Random Survival Forests

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-8-S1-S7

Unbiased Recursive Partitioning: A Conditional Inference Framework

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-8-S1-S7

Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-8-S1-S7

Predicting disease genes using protein-protein interactions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-8-S1-S7

A Tutorial on Support Vector Machines for Pattern Recognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-8-S1-S7

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/25783485

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1755-8794-8-S1-S7

1 reference

Dimensions Publication ID

6 August 2017

0 references

1 reference

6 August 2017

1 reference