Romy L.S. Mesman

机构：Leiden University Medical Center · ORCID：0000-0001-9783-7138

发表论文 24 篇 · 总被引 296 次 · h-index 7

代表论文

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer (2017 · Cancer Research · 被引 93)
The functional impact of variants of uncertain significance in BRCA2 (2018 · Genetics in Medicine · 被引 90)
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2 (2020 · Genetics in Medicine · 被引 40)
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12 (2020 · Cancer Research · 被引 33)
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. (2017 · White Rose Research Online (University of Leeds, The University of Sheffield, University of York) · 被引 15)
An Efficient Pipeline for the Generation and Functional Analysis of HumanBRCA2Variants of Uncertain Significance (2014 · Human Mutation · 被引 14)