Gemma Montalban
MRC Holland (Netherlands)(NL)CIBBIM-Nanomedicine(ES)
Publications by Year
Research Areas
DNA Repair Mechanisms, BRCA gene mutations in cancer, Genomics and Rare Diseases, RNA and protein synthesis mechanisms, RNA Research and Splicing
Most-Cited Works
- → RAD51 foci as a functional biomarker of homologous recombination repair and PARP inhibitor resistance in germline BRCA-mutated breast cancer(2018)417 cited
- → Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing(2013)69 cited
- → Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings(2018)65 cited
- → Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?(2018)64 cited
- → A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor(2019)55 cited
- → CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods(2024)54 cited
- → Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples(2016)52 cited
- → Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer(2018)40 cited
- → RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families(2014)34 cited
- → About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants(2013)30 cited