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Sarah T. South

Observed names: S T South, S.T. South, SARAH T SOUTH, SARAH T. SOUTH, Sarah South, Sarah T South, Sarah T. South, South, Sarah Thornell
Observed institutions: National Institutes of Health, Johns Hopkins University, Inserm, Baylor College of Medicine, University of Zurich, University of Utah, Johns Hopkins Medicine, Huntsman Cancer Institute, National Human Genome Research Institute, 23andMe (United States), Quest Diagnostics (United Kingdom), University Children's Hospital Zurich, National Institute of Allergy and Infectious Diseases, National Institutes of Health Clinical Center, ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories (United States), Quest Diagnostics (United States), Rockefeller University, Icahn School of Medicine at Mount Sinai
OpenAlex ID: A5003907612
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)
2019 · Erin Rooney Riggs, Erica F. Andersen, et al. · Genetics in Medicine · 1,864
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American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
2011 · Hutton M. Kearney, Erik C. Thorland, et al. · Genetics in Medicine · 940
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
2011 · Erin B Kaminsky, Vineith Kaul, et al. · Genetics in Medicine · 450
ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
2013 · Sarah T. South, Charles Lee, et al. · Genetics in Medicine · 377
Pex19 Binds Multiple Peroxisomal Membrane Proteins, Is Predominantly Cytoplasmic, and Is Required for Peroxisome Membrane Synthesis
2000 · Katherine A. Sacksteder, Jacob M. Jones, et al. · The Journal of Cell Biology · 317
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS
2016 · Hye Sun Kuehn, Bertrand Boisson, et al. · New England Journal of Medicine · 255
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Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency
2011 · Alan F. Rope, Kai Wang, et al. · The American Journal of Human Genetics · 251
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Peroxisome Synthesis in the Absence of Preexisting Peroxisomes
1999 · Sarah T. South, Stephen J. Gould · The Journal of Cell Biology · 239
Wolf–Hirschhorn syndrome: A review and update
2015 · Agatino Battaglia, John C. Carey, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 168
Pediatric-type nodal follicular lymphoma: a biologically distinct lymphoma with frequent MAPK pathway mutations
2016 · Abner Louissaint, Kristian T. Schafernak, et al. · Blood · 159
U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements
2009 · L R Rowe, J-Y Lee, et al. · Journal of Medical Genetics · 152
Inhibitors of Copi and Copii Do Not Block PEX3-Mediated Peroxisome Synthesis
2000 · Sarah T. South, Katherine A. Sacksteder, et al. · The Journal of Cell Biology · 149
Metabolic control of peroxisome abundance
1999 · Chia-Che Chang, Sarah South, et al. · Journal of Cell Science · 139
Reevaluating confined placental mosaicism
2004 · Gail Stetten, Cathleen S. Escallon, et al. · American Journal of Medical Genetics Part A · 132
Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations
2007 · Sarah T South, Heidi Whitby, et al. · European Journal of Human Genetics · 117
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes
2011 · Zhishuo Ou, Paweł Stankiewicz, et al. · Genome Research · 102
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Co‐occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf–Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith–Wiedemann or Russell–Silver phenotype
2008 · Sarah T. South, Heidi Whitby, et al. · American Journal of Medical Genetics Part A · 102
American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities
2011 · Hutton M. Kearney, Sarah T. South, et al. · Genetics in Medicine · 100
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Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies
2008 · S T South, A F Rope, et al. · Journal of Medical Genetics · 90
A new genomic mechanism leading to cri‐du‐chat syndrome
2006 · Sarah T. South, Jeffrey J. Swensen, et al. · American Journal of Medical Genetics Part A · 86
Spectrum of epilepsy and electroencephalogram patterns in Wolf–Hirschhorn syndrome: experience with 87 patients
2009 · AGATINO BATTAGLIA, TIZIANA FILIPPI, et al. · Developmental Medicine & Child Neurology · 81
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DNA copy number analysis of Grade II–III and Grade IV gliomas reveals differences in molecular ontogeny including chromothripsis associated with IDH mutation status
2015 · Adam Cohen, Mariko Sato, et al. · Acta Neuropathologica Communications · 79
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Correction: 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)
2021 · Erin Rooney Riggs, Erica F. Andersen, et al. · Genetics in Medicine · 71
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Detecting genomic imbalances in prenatal diagnosis: main hurdles and recent advances
2009 · Sarah T South, Allen N Lamb · Expert Opinion on Medical Diagnostics · 71
Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome
2011 · Peter Hammond, Femke Hannes, et al. · European Journal of Human Genetics · 70
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Works count: 116
Citation count: 7,900
H-index: 38
I10-index: 68
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