Publicacións en colaboración con investigadores/as de Hospital de Cruces (18)

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

2022

  1. Applications of Non-Coding RNAs in Patients With Retinoblastoma

    Frontiers in Genetics, Vol. 13

  2. Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes

    Parkinsonism and Related Disorders, Vol. 94, pp. 67-78

  3. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2020

  1. Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia

    Breast cancer research : BCR, Vol. 22, Núm. 1, pp. 108

  2. The role of non-coding RNAs in uveal melanoma

    Cancers, Vol. 12, Núm. 10, pp. 1-22

2019

  1. Molecular and clinical characterization of a novel nonsense variant in exon 1 of the upf3b gene found in a large spanish basque family (Mrx82)

    Frontiers in Genetics, Vol. 10, Núm. OCT

2017

  1. The relevance of precision epitope mapping for accurate oncologic diagnostic based on PTEN protein expression in tumours

    Annals of oncology : official journal of the European Society for Medical Oncology, Vol. 28

2016

  1. Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies

    Scientific Reports, Vol. 6

2013

  1. Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

    PLoS ONE, Vol. 8, Núm. 7

2012

  1. Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

    Breast Cancer Research and Treatment, Vol. 132, Núm. 1, pp. 307-315

2011

  1. Evolutionary analyses of entire genomes do not support the association of mtdna mutations with ras/mapk pathway syndromes

    PLoS ONE, Vol. 6, Núm. 4

  2. Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

    BMC Medical Genetics, Vol. 12

2010

  1. BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

    Clinical Genetics, Vol. 77, Núm. 1, pp. 60-69

  2. Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers

    Breast Cancer Research and Treatment, Vol. 119, Núm. 1, pp. 221-232

  3. The genomics serving pediatrics in the investigation of the multifactorial disease

    Acta Pediatrica Espanola, Vol. 68, Núm. 2, pp. 55-60

2008

  1. The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain

    Clinical Cancer Research, Vol. 14, Núm. 9, pp. 2861-2869

2007

  1. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

    Journal of Clinical Endocrinology and Metabolism, Vol. 92, Núm. 6, pp. 2370-2373