Izabela Karbassi

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins et al. · The American Journal of Human Genetics · 2023 · 305 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +14

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 · 192 citations · Full text

Medicine, Genetics, Molecular Genetics +17

The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

Philip M. Boone, Bo Yuan, Ian M. Campbell et al. · The American Journal of Human Genetics · 2014 · 101 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

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

Izabela Karbassi, Glenn A. Maston, Angela Love et al. · Human Mutation · 2015 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

BRCA Share: A Collection of Clinical BRCA Gene Variants

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

Life Sciences, Genetics, Molecular Genetics +17