Gemma Montalban

8PUBLICATIONS
92CO-AUTHORS
Cancer geneticsGene expression (incl. microarray and other genome-wide approaches)
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Publications (8)

|May 14, 2026
Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.

|May 30, 2023
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.

Chunling Hu, Anil Belur Nagaraj, Hermela Shimelis

|Sep 10, 2021
Clinical consequences of BRCA2 hypomorphism.

Laia Castells-Roca, Sara Gutiérrez-Enríquez, Sandra Bonache

|Jul 26, 2019
Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.

Gemma Montalban, Sandra Bonache, Alejandro Moles-Fernández

|Jul 12, 2019
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.

Melissa S Cline, Giulia Babbi, Sandra Bonache

|May 22, 2019
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.

Natàlia Padilla, Alejandro Moles-Fernández, Casandra Riera

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Frequent Collaborators

5 joint publications

Sara Gutiérrez-Enríquez

3 joint publications

Alejandro Moles-Fernández

2 joint publications

Orland Diez

2 joint publications

Sandra Bonache