Natasha T. Strande
University of North Carolina at Chapel Hill(US)Geisinger Medical Center(US)Mayo Clinic(US)WinnMed(US)Autism & Developmental Medicine Institute(US)Genomic Health (United States)(US)Geisinger Health System(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, RNA modifications and cancer, DNA Repair Mechanisms
Most-Cited Works
- → Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium(2016)573 cited
- → Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource(2017)547 cited
- → Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria(2022)488 cited
- → Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes(2019)443 cited
- → Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup(2023)266 cited
- → Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population