Jacob Durtschi

Amplicon DNA Melting Analysis for Mutation Scanning and Genotyping: Cross-Platform Comparison of Instruments and Dyes

Mark G. Herrmann, Jacob Durtschi, L Kathryn Bromley et al. · Clinical Chemistry · 2006 · 281 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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

Expanded Instrument Comparison of Amplicon DNA Melting Analysis for Mutation Scanning and Genotyping

Mark G. Herrmann, Jacob Durtschi, Carl T. Wittwer et al. · Clinical Chemistry · 2007 · 172 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