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A genotype-first approach to defining the subtypes of a complex disease
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scholarly article
1 reference
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Europe PubMed Central
PMCID
4076166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24581488%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 March 2020
title
A genotype-first approach to defining the subtypes of a complex disease
(English)
1 reference
stated in
Europe PubMed Central
PMCID
4076166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24581488%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 March 2020
author
Holly A Stessman
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
4076166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24581488%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 March 2020
author name string
Raphael Bernier
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2
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Europe PubMed Central
PMCID
4076166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24581488%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 March 2020
Evan E Eichler
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3
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PMCID
4076166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24581488%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 March 2020
language of work or name
English
0 references
publication date
1 February 2014
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PMCID
4076166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24581488%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 March 2020
published in
Cell
1 reference
stated in
Europe PubMed Central
PMCID
4076166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24581488%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 March 2020
volume
156
1 reference
stated in
Europe PubMed Central
PMCID
4076166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24581488%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 March 2020
issue
5
1 reference
stated in
Europe PubMed Central
PMCID
4076166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24581488%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 March 2020
page(s)
872-877
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PMCID
4076166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24581488%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 March 2020
cites work
Comorbidity clusters in autism spectrum disorders: an electronic health record time-series analysis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Progress in the genetics of polygenic brain disorders: significant new challenges for neurobiology
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Phenotypic heterogeneity of genomic disorders and rare copy-number variants
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
De novo mutations in human genetic disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
De Novo Gene Disruptions in Children on the Autistic Spectrum
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Patterns of developmental trajectories in toddlers with autism spectrum disorder
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Patterns and rates of exonic de novo mutations in autism spectrum disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Six developmental trajectories characterize children with autism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Next-generation sequencing demands next-generation phenotyping
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Genetics in autism diagnosis: adding molecular subtypes to neurobehavioral diagnoses
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Phenotypic variability and genetic susceptibility to genomic disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Research domain criteria (RDoC): toward a new classification framework for research on mental disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Finding the missing heritability of complex diseases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Intellectual disability and its relationship to autism spectrum disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Massively parallel exon capture and library-free resequencing across 16 genomes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Strong association of de novo copy number mutations with autism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Diagnostic genome profiling in mental retardation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Defining the phenotype in human genetic studies: forward genetics and reverse phenotyping
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Autism and intellectual disability: a study of prevalence on a sample of the Italian population
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Rett syndrome and the autistic disorders.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
4 July 2018
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
29 October 2018
Do autistic symptoms persist across time? Evidence of substantial change in symptomatology over a 3-year period in cognitively able children with autism.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
29 October 2018
Cluster analysis of autistic patients based on principal pathogenetic components
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
29 October 2018
An exploratory analysis of the use of cognitive, adaptive and behavioural indices for cluster analysis of ASD subgroups
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
29 October 2018
Outcome at 7 years of children diagnosed with autism at age 2: predictive validity of assessments conducted at 2 and 3 years of age and pattern of symptom change over time.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
29 October 2018
Continuity and change from early childhood to adolescence in autism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
29 October 2018
Evidence of brain overgrowth in the first year of life in autism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076166
retrieved
29 October 2018
Identifiers
DOI
10.1016/J.CELL.2014.02.002
1 reference
stated in
Europe PubMed Central
PMCID
4076166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24581488%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 March 2020
PMCID
4076166
1 reference
stated in
Europe PubMed Central
PMCID
4076166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24581488%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 March 2020
PubMed ID
24581488
1 reference
stated in
Europe PubMed Central
PMCID
4076166
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24581488%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 March 2020
ResearchGate publication ID
260444166
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