Christina DiVincenzo

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

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya et al. · Genetics in Medicine · 2023 · 112 citations · Full text

Genome-wide Association Study, Genetic Analysis, Next-generation Sequencing +6

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

Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication

Pengfei Liu, Violet Gelowani, Feng Zhang et al. · The American Journal of Human Genetics · 2014 · 49 citations · Full text

Neurological Disorder, Neuropathic Pain, Neuroscience +5