(Q50310344)

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

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scholarly article

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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

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author name string

Hutton M Kearney

1

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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

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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

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Europe PubMed Central

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2 March 2018

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

Genetics in Medicine

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Europe PubMed Central

PubMed publication ID

2 March 2018

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

13

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Europe PubMed Central

PubMed publication ID

2 March 2018

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

7

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Europe PubMed Central

PubMed publication ID

2 March 2018

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

680-685

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Europe PubMed Central

PubMed publication ID

2 March 2018

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

https://scigraph.springernature.com/pub.10.1097/gim.0b013e3182217a3a

0 references

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

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21 January 2018

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

1 reference

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21 January 2018

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

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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

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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

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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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