Heather Zimmermann

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 · 254 citations · Full text

Acmg/amp Framework, Systems Biology, Functional Genomics +9

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

Joana Rita Chora, Michael A. Iacocca, Lukáš Tichý et al. · Genetics in Medicine · 2021 · 143 citations · Full text

Clinical Genome Resource, Cardiovascular Disease, Medicine +12

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer

Rachid Karam, Blair R. Conner, Holly LaDuca et al. · JAMA Network Open · 2019 · 76 citations · Full text

Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing

Carolyn Horton, Lily Hoang, Heather Zimmermann et al. · JAMA Oncology · 2023 · 29 citations · Full text

Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer

Carolyn Horton, Ashley Cass, Blair R. Conner et al. · npj Genomic Medicine · 2022 · 26 citations · Full text