Rebecca L. Margraf

Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency

Karin Chen, Emily Coonrod, Attila Kumánovics et al. · The American Journal of Human Genetics · 2013 · 260 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

Marc Singleton, Stephen L. Guthery, Karl V. Voelkerding et al. · The American Journal of Human Genetics · 2014 · 195 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Multiple endocrine neoplasia type 2 <i>RET</i> protooncogene database: Repository of MEN2-associated <i>RET</i> sequence variation and reference for genotype/phenotype correlations

Rebecca L. Margraf, David K. Crockett, Patti Krautscheid et al. · Human Mutation · 2009 · 158 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data

Hao Hu, Jared C. Roach, Hilary Coon et al. · Nature Biotechnology · 2014 · 101 citations

Life Sciences, Biostatistics, Genetics +17

A novel germline PIGA mutation in Ferro‐Cerebro‐Cutaneous syndrome: A neurodegenerative X‐linked epileptic encephalopathy with systemic iron‐overload

Kathryn J. Swoboda, Rebecca L. Margraf, John C. Carey et al. · American Journal of Medical Genetics Part A · 2013 · 70 citations

Life Sciences, Genetics, Molecular Genetics +17