Publications by the researcher in collaboration with Maria Desamparados Sarabia Meseguer (10)

2023

  1. Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia

    Advances in Laboratory Medicine, Vol. 4, Núm. 3, pp. 279-287

  2. Variantes genéticas recurrentes y priorización de variantes de significado clínico desconocido asociadas al síndrome de cáncer de mama y ovario hereditario en familias de la Región de Murcia

    Advances in Laboratory Medicine, Vol. 4, Núm. 3, pp. 288-297

2022

  1. Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance

    European Journal of Medical Genetics, Vol. 65, Núm. 4

2021

  1. Utilidad de los algoritmos de priorización de variantes con significado clínico desconocido en el síndrome de cáncer de mama y ovario hereditario

    Revista de Medicina de Laboratorio, Vol. 2, Núm. 1, pp. 21-29

2020

  1. RAD51C y RAD51D en el síndrome de cáncer de mama y ovario hereditario

    Revista de Medicina de Laboratorio, Vol. 1, Núm. 3, pp. 108-119

2018

  1. Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain)

    European Journal of Medical Genetics, Vol. 61, Núm. 6, pp. 355-361

  2. New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer

    Cancer Genetics, Vol. 228-229, pp. 1-4

2017

  1. Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical–pathological features in BRCA carriers and non-carriers

    Familial Cancer, Vol. 16, Núm. 4, pp. 477-489

2014

  1. Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry

    Familial Cancer, Vol. 13, Núm. 3, pp. 431-435

2006

  1. La farmacogenómica en la medicina personalizada

    Análisis clínicos: órgano de expresión científica y profesional de la Asociación Española de Farmacéuticos Analistas, Tomo 31, Núm. 4, pp. 79-84