Beth S. Torchia

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 · 758 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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 · 271 citations · Full text

Medicine, Genetics, Obstetrics +12

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 · 243 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Life Sciences, Genetics, Molecular Genetics +17

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

Life Sciences, Genetics, Molecular Genetics +17