VarBin, a novel method for classifying true and false positive variants in NGS data

por Durtschi, Jacob, Margraf, Rebecca L, Coonrod, Emily M, Mallempati, Kalyan C, Voelkerding, Karl V
Publicado 2013

Predicting Phenotypic Severity of Uncertain Gene Variants in the RET Proto-Oncogene

por Crockett, David K., Piccolo, Stephen R., Ridge, Perry G., Margraf, Rebecca L., Lyon, Elaine, Williams, Marc S., Mitchell, Joyce A.
Publicado 2011

Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes

por Margraf, Rebecca L., Durtschi, Jacob, Krock, Bryan, Newcomb, Tara M., Bonkowsky, Joshua L., Voelkerding, Karl V., Bayrak-Toydemir, Pinar, Lutz, Richard E., Swoboda, Kathryn J.
Publicado 2018