American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants (Q50310344)

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scientific article published in July 2011

Language	Label	Description	Also known as
English	American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants	scientific article published in July 2011

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21681106

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

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21681106

medical genetics

0 references

author name string

Hutton M Kearney

1

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21681106

Erik C Thorland

2

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21681106

Kerry K Brown

3

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21681106

Fabiola Quintero-Rivera

4

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21681106

Sarah T South

5

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21681106

Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee

6

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21681106

language of work or name

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publication date

1 July 2011

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21681106

Genetics in Medicine

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21681106

13

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21681106

7

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21681106

680-685

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21681106

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Emerging themes and new challenges in defining the role of structural variation in human disease

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

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/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Novel microdeletion syndromes detected by chromosome microarrays

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Duplication hotspots, rare genomic disorders, and common disease

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Population analysis of large copy number variants and hotspots of human genetic disease

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Long-range control of gene expression: emerging mechanisms and disruption in disease

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Detection of large-scale variation in the human genome

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

The fine-scale and complex architecture of human copy-number variation

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Diet and the evolution of human amylase gene copy number variation

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Duty to re-contact.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Genomic heterogeneity and instability of the AZF locus on the human Y chromosome

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Public data archives for genomic structural variation

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Hotspots of large rare deletions in the human genome

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182217A3A

21 January 2018

Identifiers

10.1097/GIM.0B013E3182217A3A

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21681106

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21681106

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