Sarah T. South

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Erin Rooney Riggs, Erica Andersen, Athena M. Cherry et al. · Genetics in Medicine · 2019 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

Hutton M. Kearney, Erik C. Thorland, Kerry K. Brown et al. · Genetics in Medicine · 2011 · 956 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 450 citations

Life Sciences, Genetics, Molecular Genetics +17

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

Sarah T. South, Charles Lee, Allen N. Lamb et al. · Genetics in Medicine · 2013 · 376 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Pex19 Binds Multiple Peroxisomal Membrane Proteins, Is Predominantly Cytoplasmic, and Is Required for Peroxisome Membrane Synthesis

Katherine A. Sacksteder, Jacob M. Jones, Sarah T. South et al. · The Journal of Cell Biology · 2000 · 317 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +15