Concepedia
Statistics
Publications
7
Citations
644
H-Index
Active since
2008
Affiliations
Signature Research (United States)(Current)
Pediatrics and Genetics
University of North Carolina at Chapel Hill
University of Washington
Beth A. Torchia is an author at Signature Research (United States) specializing in genetics, life sciences, and cytogenetics.
Publications per year
2008–2011
Comparison of microarray‐based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens
Lisa G. Shaffer, Justine Coppinger, Sarah Alliman et al. · Prenatal Diagnosis · 2008 · 186 citations
Life Sciences, Genetics, Obstetrics +15
Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome
Jill A. Rosenfeld, Blake C. Ballif, Ann Lucas et al. · PLoS ONE · 2009 · 174 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
aCGH detects partial tetrasomy of 12p in blood from Pallister–Killian syndrome cases without invasive skin biopsy
Aaron Theisen, Jill A. Rosenfeld, Sandra A. Farrell et al. · American Journal of Medical Genetics Part A · 2009 · 113 citations
Life Sciences, Genetics, Molecular Genetics +16
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories
Karen D. Tsuchiya, Lisa G. Shaffer, Swaroop Aradhya et al. · Genetics in Medicine · 2009 · 57 citations · Full text
Life Sciences, Bioinformatics, Good Laboratory Practice +11
Deletion of Hepatocyte Nuclear Factor-1-Beta in an Infant with Prune Belly Syndrome
Sina Haeri, Patricia Devers, Kathleen Kaiser‐Rogers et al. · American Journal of Perinatology · 2010 · 56 citations
Medicine, Genetics, Molecular Genetics +16
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