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Gemma Montalban

ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 7

Top Venues

Human mutation

NPJ breast cancer

Cancer research

Journal of medical genetics

Centre de recherche du CHUL

Universitat de Barcelona (MSC)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Centre de recherche du CHUL

Canada

Postdoctoral researcher :: Molecular medicine

Education History

Universitat de Barcelona

Spain

MSC

Publications

Chunling Hu, Anil Belur Nagaraj, Hermela Shimelis, Gemma Montalban, Kun Y Lee, Huaizhi Huang, Carolyn A Lumby, Jie Na, Lisa R Susswein, Maegan E Roberts, Megan L Marshall, Susan Hiraki, Holly LaDuca, Elizabeth C Chao, Amal Yussuf, Tina Pesaran, Susan L Neuhausen, Christopher A Haiman, Peter Kraft, Sara Lindström, Julie R Palmer, Lauren R Teras, Celine M Vachon, Song Yao, Irene M Ong, Katherine L Nathanson, Jeffrey N Weitzel, Nicholas J Boddicker, Rohan Gnanaolivu, Eric C Polley, Georges Mer, Gaofeng Cui, Rachid Karam, Marcy E Richardson, Susan M Domchek, Siddhartha Yadav, Kathleen S Hruska, Jill S Dolinsky, John S Weroha, Steven N Hart, Jacques Simard, Jean-Yves Masson, Yuan-Ping Pang, Fergus J Couch
Functional and clinical characterization of variants of uncertain significance identifies a hotspot for inactivating missense variants in RAD51C. Cancer research (2023)
Laia Castells-Roca, Sara Gutiérrez-Enríquez, Sandra Bonache, Massimo Bogliolo, Estela Carrasco, Miriam Aza-Carmona, Gemma Montalban, Núria Muñoz-Subirana, Roser Pujol, Cristina Cruz, Alba Llop-Guevara, María J Ramírez, Cristina Saura, Adriana Lasa, Violeta Serra, Orland Diez, Judith Balmaña, Jordi Surralles
Clinical consequences of BRCA2 hypomorphism. NPJ breast cancer 7 (1) (2021)
Natália Padilla, Alejandro Moles-Fernández, Casandra Riera, Gemma Montalban, Selen Özkan, Lars Ootes, Sandra Bonache, Orland Diez, Sara Gutiérrez-Enríquez, Xavier de la Cruz
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge. Human mutation 40 (9) (2019)
Melissa S Cline, Giulia Babbi, Sandra Bonache, Yue Cao, Rita Casadio, Xavier de la Cruz, Orland Díez, Sara Gutiérrez-Enríquez, Panagiostis Katsonis, Carmen Lai, Olivier Lichtarge, Pier Luigi Martelli, Gilad Mishne, Alejandro Moles-Fernández, Gemma Montalban, Sean D Mooney, Robert O'Conner, Lars Ootes, Selen Özkan, Natalia Padilla, Kymberleigh A Pagel, Vikas Pejaver, Predrag Radivojac, Casandra Riera, Castrense Savojardo, Yang Shen, Yuanfei Sun, Scott Topper, Michael T Parsons, Amanda B Spurdle, David E Goldgar, null null
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants. Human mutation 40 (9) (2019)
Gemma Montalban, Sandra Bonache, Alejandro Moles-Fernández, Neus Gadea, Anna Tenés, Sara Torres-Esquius, Estela Carrasco, Judith Balmaña, Orland Diez, Sara Gutiérrez-Enríquez
Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes. Human mutation 40 (12) (2019)
Gemma Montalban, Sandra Bonache, Alejandro Moles-Fernández, Alexandra Gisbert-Beamud, Anna Tenés, Vanessa Bach, Estela Carrasco, Adrià López-Fernández, Neda Stjepanovic, Judith Balmaña, Orland Diez, Sara Gutiérrez-Enríquez
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. Journal of medical genetics 56 (2) (2018)
Gemma Montalban, Eugenia Fraile-Bethencourt, Irene López-Perolio, Pedro Pérez-Segura, Mar Infante, Mercedes Durán, María Concepción Alonso-Cerezo, Adrià López-Fernández, Orland Diez, Miguel de la Hoya, Eladio A Velasco, Sara Gutiérrez-Enríquez
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study. Human mutation 39 (9) (2018)

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Publication Activity (10 Years)

Top Topics

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Gemma Montalban