Wendy S. Rubinstein

ClinVar: public archive of relationships among sequence variation and human phenotype

Melissa Landrum, Jennifer M. Lee, Wonhee Jang et al. · Nucleic Acids Research · 2013 · 3.7K citations · Full text

Life Sciences, Bioinformatics, Genetics +16

ClinVar: public archive of interpretations of clinically relevant variants

Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2015 · 2.9K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in <i>SDHD</i> , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma

Bora E. Baysal, Robert E. Ferrell, Joan E. Willett-Brozick et al. · Science · 2000 · 1.6K citations

Life Sciences, Genetics, Molecular Genetics +16

Pathology of Breast and Ovarian Cancers among <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Results from the Consortium of Investigators of Modifiers of <i>BRCA1</i> / <i>2</i> (CIMBA)

Nasim Mavaddat, Daniel Barrowdale, Irene L. Andrulis et al. · Cancer Epidemiology Biomarkers & Prevention · 2012 · 668 citations · Full text

Medicine, Genetics, Oncology +15

BRCAPRO Validation, Sensitivity of Genetic Testing of <i>BRCA1/BRCA2</i>, and Prevalence of Other Breast Cancer Susceptibility Genes

Donald A. Berry, Edwin S. Iversen, Daníel F. Guðbjartsson et al. · Journal of Clinical Oncology · 2002 · 506 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17