Concepedia

Clinical Utility of Chromosomal Microarray Analysis

Jay W. Ellison, J. Britt Ravnan, Jill A. Rosenfeld, S. Annie Morton, Nicholas J. Neill, Marc S. Williams, J. Lewis, Beth S. Torchia, Cathryn Walker, Ryan N. Traylor,

PEDIATRICS · 2012 · 55 citations · 94 references

DOI

Abstract

The disorders diagnosed by chromosomal microarray analysis frequently have clinical features that need medical attention, and physicians respond to the diagnoses with specific clinical actions, thus arguing that microarray testing provides clinical utility for a significant number of patients tested.

References

94

Screening for Lung Cancer: U.S. Preventive Services Task Force Recommendation Statement

Virginia A. Moyer · Annals of Internal Medicine · 2013 · 2.6K citations

Spectrum of Mutations in Long-QT Syndrome Genes

Igor Splawski, Jiaxiang Shen, Katherine W. Timothy et al. · Circulation · 2000 · 1.2K citations · Full text

Practice parameter: Evaluation of the child with global developmental delay [RETIRED]

Michael Shevell, Stephen Ashwal, Dorothy E. Donley et al. · Neurology · 2003 · 822 citations · Full text

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker et al. · New England Journal of Medicine · 2008 · 803 citations · Full text

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper et al. · Nature Genetics · 2010 · 669 citations · Full text

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