(Q35892626)

English

Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience

scientific article published on 20 March 2012

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience (English)

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Erin Rooney Riggs

1

object named as

Erin Rooney Riggs

0 references

Steven van Vooren

object named as

Steven Van Vooren

4

0 references

David T. Miller

3

object named as

David T Miller

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

author name string

Erin Rooney Riggs

1

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Laird Jackson

2

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

publication date

20 March 2012

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

33

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

5

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

787-796

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Towards an evidence-based process for the clinical interpretation of copy number variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

A copy number variation morbidity map of developmental delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

The value of data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

Accurate distinction of pathogenic from benign CNVs in mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

The human phenotype ontology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

Entity/quality-based logical definitions for the human skeletal phenome using PATO

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

Mining phenotypes for gene function prediction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

Integration of curated databases to identify genotype-phenotype associations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

Cri du Chat syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

Passive consent for clinical research in the age of HIPAA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

Variations among Institutional Review Board reviews in a multisite health services research study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

Cri du chat syndrome: genotype-phenotype correlations and recommendations for clinical management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

Association of genes to genetically inherited diseases using data mining

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327820

11 July 2018

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22052

21 January 2018

American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22052

21 January 2018

16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22052

21 January 2018

Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22052

21 January 2018

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22052

21 January 2018

Registries and Informed Consent

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22052

21 January 2018

Identifiers

10.1002/HUMU.22052

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

ResearchGate publication ID

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