Publicacións en colaboración con investigadores/as de Hospital Clínico San Carlos de Madrid (74)

2024

  1. Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants

    Journal of Pathology, Vol. 262, Núm. 4, pp. 395-409

  2. Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants

    Clinical chemistry, Vol. 70, Núm. 1, pp. 319-338

  3. Trastuzumab deruxtecan in breast cancer

    Critical Reviews in Oncology/Hematology, Vol. 198

2023

  1. HTLV-1-associated myelopathy in Spain

    Journal of Clinical Virology, Vol. 169

  2. Monitoring monkeypox virus in saliva and air samples in Spain: a cross-sectional study

    The Lancet Microbe, Vol. 4, Núm. 1, pp. e21-e28

2022

  1. A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility

    Cancers, Vol. 14, Núm. 19

  2. Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C

    Cancers, Vol. 14, Núm. 12

  3. Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants

    Journal of Pathology, Vol. 258, Núm. 1, pp. 83-101

  4. Novel adcs and strategies to overcome resistance to anti-her2 adcs

    Cancers, Vol. 14, Núm. 1

  5. Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants

    Cancers, Vol. 14, Núm. 18

  6. Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants

    Journal of Pathology, Vol. 256, Núm. 3, pp. 321-334

2021

  1. The first wave of the COVID-19 epidemic in Spain was associated with early introductions and fast spread of a dominating genetic variant

    Nature Genetics, Vol. 53, Núm. 10, pp. 1405-1414

2020

  1. Adaptive resistance to trastuzumab impairs response to neratinib and lapatinib through deregulation of cell death mechanisms

    Cancer Letters, Vol. 470, pp. 161-169

  2. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    Nature Genetics, Vol. 52, Núm. 1, pp. 56-73

  3. GEHEP 010 study: Prevalence and distribution of hepatitis B virus genotypes in Spain (2000–2016)

    Journal of Infection, Vol. 81, Núm. 4, pp. 600-606

  4. Prevalence of SARS-CoV-2 in Spain (ENE-COVID): a nationwide, population-based seroepidemiological study

    The Lancet, Vol. 396, Núm. 10250, pp. 535-544

  5. The situation of infection in the elderly in Spain: A multidisciplinary opinion document

    Revista Espanola de Quimioterapia, Vol. 33, Núm. 5, pp. 327-349

2019

  1. Clinical experience with integrase inhibitors in HIV-2-infected individuals in Spain

    Journal of Antimicrobial Chemotherapy, Vol. 74, Núm. 5, pp. 1357-1362

  2. Clinical presentation of individuals with human T-cell leukemia virus type-1 infection in Spain

    Open Forum Infectious Diseases, Vol. 6, Núm. 2

  3. Cohort profile: Design and methods of the PREDIMED-Plus randomized trial

    International Journal of Epidemiology, Vol. 48, Núm. 2, pp. 387-388o