Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation
2021 · The American Journal of Human Genetics · 86 citations
https://doi.org/10.1016/j.ajhg.2021.03.006
S
Susan Rojahn
Claim or correct this author profile
Claim this profile or suggest corrections to the name, affiliation, bio, photo, or paper titles. Approved changes appear as verified CitedEvidence overlays.
25
Papers
617
Citations
11
h-index
11
i10-index
Susan Rojahn is an academic researcher from Natera (United States). The author has contributed to research in topics: Cardiomyopathy and Myosin Studies & BRCA gene mutations in cancer & Cancer Genomics and Diagnostics. The author has an h-index of 11, co-authored 22 publications.
ORCID: 0000-0001-5888-7693Papers by this author
worksEfficacy of National Comprehensive Cancer Network Guidelines in Identifying Pathogenic Germline Variants Among Unselected Patients with Prostate Cancer: The PROCLAIM Trial
2023 · European Urology Oncology · 17 citations
https://doi.org/10.1016/j.euo.2023.07.008
Scalable detection of technically challenging variants through modified next‐generation sequencing
2022 · Molecular Genetics & Genomic Medicine · 11 citations
https://doi.org/10.1002/mgg3.2072
Research topics
topicsChat about Author
Papers
Chat
Click to start Chat