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Lista de obras de Gemma Montalban

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

artículo científico

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

scientific article published on 23 August 2019

BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge

artículo científico publicado en 2019

Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study

artículo científico publicado en 2018

Clinical consequences of BRCA2 hypomorphism

publication published on 09 September 2021

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

artículo científico publicado en 2014

Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes

artículo científico publicado en 2019

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

artículo científico publicado en 2019

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings

article

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

artículo científico publicado en 2016

RAD51 foci as a functional biomarker of homologous recombination repair and PARP inhibitor resistance in germline BRCA mutated breast cancer.

artículo científico publicado en 2018

RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families

article

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

scientific article published on 24 November 2018

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