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Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape
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PubMed
review article
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Europe PubMed Central
title
Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape
(English)
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PubMed
main subject
autism spectrum disorder
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autism
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author name string
Brenda Finucane
series ordinal
1
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Crossref
Scott M. Myers
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2
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Crossref
language of work or name
English
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PubMed
publication date
2016
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PubMed
published in
Current genetic medicine reports
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Crossref
volume
4
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PubMed
page(s)
147-153
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PubMed
copyright license
Creative Commons Attribution 4.0 International
start time
24 June 2016
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April 2022 Public Data File from Crossref
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copyrighted
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CNVs in neuropsychiatric disorders
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4982889
retrieved
20 March 2017
CNVs: harbingers of a rare variant revolution in psychiatric genetics
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4982889
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20 March 2017
Identification and Evaluation of Children With Autism Spectrum Disorders
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4982889
retrieved
20 March 2017
Synaptic, transcriptional and chromatin genes disrupted 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=4982889
retrieved
20 March 2017
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
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=4982889
retrieved
20 March 2017
Autism and diagnostic substitution: evidence from a study of adults with a history of developmental language 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=4982889
retrieved
20 March 2017
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4982889
retrieved
20 March 2017
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=4982889
retrieved
7 April 2017
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services
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=4982889
retrieved
9 May 2017
Risk of Psychiatric and Neurodevelopmental Disorders Among Siblings of Probands With 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=4982889
retrieved
29 September 2017
Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years--Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2012.
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=4982889
retrieved
29 September 2017
Molecular subtyping and improved treatment of neurodevelopmental 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=4982889
retrieved
29 September 2017
A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain 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=4982889
retrieved
29 September 2017
Heritability of autism spectrum disorders: a meta-analysis of twin studies
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=4982889
retrieved
29 September 2017
Clinical application of whole-exome sequencing across clinical indications
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=4982889
retrieved
29 September 2017
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications
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=4982889
retrieved
29 September 2017
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
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=4982889
retrieved
29 September 2017
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children 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=4982889
retrieved
29 September 2017
From the genetic architecture to synaptic plasticity in 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=4982889
retrieved
29 September 2017
Evaluating Changes in the Prevalence of the Autism Spectrum Disorders (ASDs)
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=4982889
retrieved
29 September 2017
Comorbidity of intellectual disability confounds ascertainment of autism: implications for genetic diagnosis
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=4982889
retrieved
29 September 2017
Genetics and genomics of autism spectrum disorder: embracing complexity
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=4982889
retrieved
29 September 2017
Shift happens: family background influences clinical variability in genetic 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=4982889
retrieved
29 September 2017
Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins
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=4982889
retrieved
29 September 2017
The female protective effect in autism spectrum disorder is not mediated by a single genetic locus.
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=4982889
retrieved
29 September 2017
Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database
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=4982889
retrieved
29 September 2017
Rare copy number variants are common in young children 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=4982889
retrieved
29 September 2017
New approaches to psychiatric diagnostic classification
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=4982889
retrieved
29 September 2017
Clinical exome sequencing for genetic identification of rare Mendelian 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=4982889
retrieved
29 September 2017
Molecular findings among patients referred for clinical whole-exome sequencing
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=4982889
retrieved
29 September 2017
Most genetic risk for autism resides with common variation
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=4982889
retrieved
29 September 2017
The familial risk of 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=4982889
retrieved
29 September 2017
Convergence of genes and cellular pathways dysregulated 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=4982889
retrieved
29 September 2017
A higher mutational burden in females supports a "female protective model" in 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=4982889
retrieved
29 September 2017
Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome
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=4982889
retrieved
29 September 2017
A de novo convergence of autism genetics and molecular neuroscience
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=4982889
retrieved
29 September 2017
From Kanner to DSM-5: autism as an evolving diagnostic concept
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=4982889
retrieved
29 September 2017
Autism at 70--redrawing the boundaries
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=4982889
retrieved
29 September 2017
Recurrence of autism spectrum disorders in full- and half-siblings and trends over time: a population-based cohort study
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=4982889
retrieved
29 September 2017
Distribution of disease-associated copy number variants across distinct disorders of cognitive development
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=4982889
retrieved
29 September 2017
Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
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=4982889
retrieved
29 September 2017
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts
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=4982889
retrieved
29 September 2017
The genetic variability and commonality of neurodevelopmental 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=4982889
retrieved
29 September 2017
Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research
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=4982889
retrieved
29 September 2017
Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study
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=4982889
retrieved
29 September 2017
Sibling recurrence and the genetic epidemiology of 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=4982889
retrieved
29 September 2017
Clinical genetic testing for patients with 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=4982889
retrieved
29 September 2017
Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple 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=4982889
retrieved
29 September 2017
Language and reading abilities of children with autism spectrum disorders and specific language impairment and their first-degree relatives
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=4982889
retrieved
29 September 2017
Trends in autism prevalence: diagnostic substitution revisited
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=4982889
retrieved
29 September 2017
Increased female autosomal burden of rare copy number variants in human populations and in autism families.
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=4982889
retrieved
2 June 2018
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions
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=4982889
retrieved
2 June 2018
DSM-5
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1007%2FS40142-016-0099-9
retrieved
21 January 2018
Autism spectrum disorders in young children: effect of changes in diagnostic practices.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1007%2FS40142-016-0099-9
retrieved
21 January 2018
Explaining the increase in the prevalence of autism spectrum disorders: the proportion attributable to changes in reporting practices
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1007%2FS40142-016-0099-9
retrieved
21 January 2018
CNVs in Epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1007%2FS40142-016-0099-9
retrieved
21 January 2018
Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1007%2FS40142-016-0099-9
retrieved
21 January 2018
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1007%2FS40142-016-0099-9
retrieved
21 January 2018
Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: which guidelines to implement?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1007%2FS40142-016-0099-9
retrieved
21 January 2018
The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1007%2FS40142-016-0099-9
retrieved
21 January 2018
Sibling risk of pervasive developmental disorder estimated by means of an epidemiologic survey in Nagoya, Japan
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1007%2FS40142-016-0099-9
retrieved
21 January 2018
DSM-5 and psychiatric genetics - round hole, meet square peg.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1007%2FS40142-016-0099-9
retrieved
21 January 2018
Medicine. Brain disorders? Precisely
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1007%2FS40142-016-0099-9
retrieved
21 January 2018
Identifiers
DOI
10.1007/S40142-016-0099-9
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4747433
Dimensions Publication ID
1040564430
0 references
OpenCitations bibliographic resource ID
4747433
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4747433
PMC publication ID
4982889
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4747433
PubMed publication ID
27570713
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4747433
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