Barbara Roig - Publications

Metabolomic-driven prediction of the mutational status of healthy individuals with a family history of hereditary breast and ovarian cancer syndrome: the HRRmet study.

Journal: Scientific reports

Published: August 05, 2025

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.

Journal: Database : the journal of biological databases and curation

Published: April 02, 2024

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

Journal: Journal of medical genetics

Published: May 10, 2023

Utility of ctDNA Liquid Biopsies from Cancer Patients: An Institutional Study of 285 ctDNA Samples.

Journal: Cancers

Published: November 16, 2022

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

Journal: Clinical biochemistry

Published: August 01, 2019

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

Journal: Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico

Published: September 28, 2017

Metabolomics reveals novel blood plasma biomarkers associated to the BRCA1-mutated phenotype of human breast cancer.

Journal: Scientific reports

Published: August 15, 2017

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

Journal: Cancer genetics

Published: June 03, 2016

Genetic study of NRXN1β variants in Spanish patients with schizophrenia.

Journal: Schizophrenia research

Published: June 06, 2014

Mitochondrial DNA (mtDNA) in brain samples from patients with major psychiatric disorders: gene expression profiles, mtDNA content and presence of the mtDNA common deletion.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: February 08, 2012

Increased expression of the spliced DDR1c isoform in brain tissues from schizophrenia patients.

Journal: Journal of psychiatric research

Published: January 17, 2012

The discoidin domain receptor 1 gene has a functional A2RE sequence.

Journal: Journal of neurochemistry

Published: November 15, 2011