Christopher Elzinga

The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy

Christina DiVincenzo, Christopher Elzinga, Adam C. Medeiros et al. · Molecular Genetics & Genomic Medicine · 2014 · 187 citations · Full text

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders

Izabela Karbassi, Glenn A. Maston, Angela Love et al. · Human Mutation · 2015 · 70 citations · Full text

Genetic Testing, Genetics, Polygenic Risk +20

BRCA Share: A Collection of Clinical BRCA Gene Variants

Christophe Béroud, Stanley Letovsky, Corey Braastad et al. · Human Mutation · 2016 · 64 citations · Full text

Genetic Testing, Cancer Pathology, Genetics +23

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory

Charles M. Strom, Steven Rivera, Christopher Elzinga et al. · PLoS ONE · 2015 · 54 citations · Full text

Engineering, Genetics, Brca2 Mutations +17

Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS)

Charles M. Strom, Ben Anderson, David Tsao et al. · PLoS ONE · 2017 · 18 citations · Full text

Genetic Testing, Genetics, Fetal Medicine +22