Rebecca L Margraf

Translating exome sequencing from research to clinical diagnostics

Karl V Voelkerding, Emily M. Coonrod, Emily M Coonrod, 2011, Clinical chemistry and laboratory medicine.

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

Rong Mao, Carl T Wittwer, Rebecca L Margraf, 2009, Human mutation.

Developing genome and exome sequencing for candidate gene identification in inherited disorders: an integrated technical and bioinformatics approach.

Karl V Voelkerding, Emily M. Coonrod, Emily M Coonrod, 2013, Archives of pathology & laboratory medicine.

Variant identification in multi-sample pools by illumina genome analyzer sequencing.

Shale Dames, Karl V Voelkerding, Jacob D Durtschi, 2011, Journal of biomolecular techniques : JBT.

Clinical analysis of genome next-generation sequencing data using the Omicia platform

Martin G Reese, Archie Russell, Karl V Voelkerding, 2013, Expert review of molecular diagnostics.

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

Gustavo Glusman, Paul Scheet, Mark Yandell, 2014, Nature Biotechnology.