M. Salvat

Germline promoter hypermethylation in BRCA1 and BRCA2 genes is not present in hereditary breast cancer patients

L. Martorell, B. Roig, J. Borràs, 2018, Clinical and Translational Oncology.

Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients

M. Urioste, R. Andrés, J. Rosell, 2021, Orphanet Journal of Rare Diseases.

Large genomic rearrangements in mutation‐negative BRCA families: a population‐based study

J. Borràs, J. Gumà, A. Torres, 2010, Clinical genetics.

In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample.

E. Vilella, L. Martorell, B. Roig, 2016, Cancer genetics.

Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients.

L. Martorell, B. Roig, J. Borràs, 2019, Clinical biochemistry.

Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer

B. Roig, J. Brunet, J. Borràs, 2023, Journal of Medical Genetics.