Concepedia

Experience Using a Rapid Assay for Aneuploidy and Microdeletion/Microduplication Detection in over 2,900 Prenatal Specimens

Jill A. Rosenfeld, S. Anne Morton, Cathryn Hummel, Scott G. Sulpizio, Lisa D. McDaniel, Roger A. Schultz, Beth S. Torchia, J. Britt Ravnan, Jay W. Ellison, Allan J. Fisher

Fetal Diagnosis and Therapy · 2014 · 10 citations · 33 references

DOI

Abstract

When combined with karyotyping, this assay provides increased interrogation of specific chromosomal regions, while limiting VOUS identification.

References

33

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

Ronald J. Wapner, Brynn Levy, Blake C. Ballif et al. · New England Journal of Medicine · 2012 · 1.4K citations · Full text

A copy number variation morbidity map of developmental delay

Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan et al. · Nature Genetics · 2011 · 1.4K citations · Full text

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

Erin B. Kaminsky, Vineith Kaul, Justin Paschall et al. · Genetics in Medicine · 2011 · 444 citations · Full text

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Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound

Lisa G. Shaffer, Jill A. Rosenfeld, Mindy Preston Dabell et al. · Prenatal Diagnosis · 2012 · 264 citations · Full text

Women’s experiences receiving abnormal prenatal chromosomal microarray testing results

Barbara A. Bernhardt, Danielle Soucier, Karen Hanson et al. · Genetics in Medicine · 2012 · 223 citations · Full text

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