Concepedia

Beth S. Torchia

BS

Statistics

Publications

31

Citations

3.1K

H-Index

27

Active since

1994

Affiliations

Signature Research (United States)(Current)

PerkinElmer (United States)

University of Missouri

Johns Hopkins University

Louisiana State University Health Sciences Center New Orleans

Beth S. Torchia is an author at Signature Research (United States) specializing in medicine, genetics, and developmental biology.

Top concepts

Publications per year

1994–2015

31

Publications

31

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld et al. · Nature Genetics · 2014 · 734 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

Experience with microarray‐based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies

Lisa G. Shaffer, Mindy Preston Dabell, Allan J. Fisher et al. · Prenatal Diagnosis · 2012 · 241 citations · Full text

Whole‐genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray

Justine Coppinger, Sarah Alliman, Allen N. Lamb et al. · Prenatal Diagnosis · 2009 · 173 citations

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders

Jill A. Rosenfeld, Blake C. Ballif, Beth S. Torchia et al. · Genetics in Medicine · 2010 · 169 citations · Full text

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