Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification
2019 · Human Mutation · 150 citations
https://doi.org/10.1002/humu.23818
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Gemma Montalban
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Gemma Montalban is an academic researcher from MRC Holland (Netherlands). The author has contributed to research in topics: DNA Repair Mechanisms & BRCA gene mutations in cancer & Genomics and Rare Diseases. The author has an h-index of 14, co-authored 29 publications.
ORCID: 0000-0002-6958-4759Papers by this author
worksCAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
2024 · Genome biology · 54 citations
https://doi.org/10.1186/s13059-023-03113-6
Data from Functional and clinical characterization of variants of uncertain significance identifies a hotspot for inactivating missense variants in RAD51C
2024 · 0 citations
https://doi.org/10.1158/0008-5472.c.6769332.v2
Supplementary Materials, Figure S1-S4, Table S1-S9 from Functional and clinical characterization of variants of uncertain significance identifies a hotspot for inactivating missense variants in RAD51C
2024 · 0 citations
https://doi.org/10.1158/0008-5472.27028045
Supplementary Materials, Figure S1-S4, Table S1-S9 from Functional and clinical characterization of variants of uncertain significance identifies a hotspot for inactivating missense variants in RAD51C
2024 · 0 citations
https://doi.org/10.1158/0008-5472.27028045.v1
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