Publications en collaboration avec des chercheurs de Hospital de la Santa Creu i Sant Pau (33)

2024

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

    Database : the journal of biological databases and curation, Vol. 2024

  2. Urban environment and health: a cross-sectional multiregional project based on population health surveys in Spain (DAS-EP project) - study protocol

    BMJ open, Vol. 14, Núm. 3, pp. e074252

2023

  1. Genetic Architecture of Ischaemic Strokes after COVID-19 Shows Similarities with Large Vessel Strokes

    International Journal of Molecular Sciences, Vol. 24, Núm. 17

2022

  1. SARS-CoV-2 vaccine response and rate of breakthrough infection in patients with hematological disorders

    Journal of hematology & oncology, Vol. 15, Núm. 1, pp. 54

  2. SARS-CoV-2-reactive antibody detection after SARS-CoV-2 vaccination in hematopoietic stem cell transplant recipients: Prospective survey from the Spanish Hematopoietic Stem Cell Transplantation and Cell Therapy Group

    American Journal of Hematology, Vol. 97, Núm. 1, pp. 30-42

2021

  1. Dupilumab provides significant clinical benefit in a phase 3 trial in adolescents with uncontrolled atopic dermatitis irrespective of prior systemic immunosuppressant use

    Acta Dermato-Venereologica, Vol. 101, Núm. 7

  2. 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. Hereditary leiomyomatosis and renal cell cancer syndrome in spain: Clinical and genetic characterization

    Cancers, Vol. 12, Núm. 11, pp. 1-16

2019

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

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

  2. VEGFR2 and OPG genes modify the risk of subclinical coronary atherosclerosis in patients with familial hypercholesterolemia

    Atherosclerosis, Vol. 285, pp. 17-22

2018

  1. Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome

    British Journal of Dermatology, Vol. 178, Núm. 1, pp. 198-206

2017

  1. Drug resistance mutations in HIV-2 patients failing raltegravir and influence on dolutegravir response

    Journal of Antimicrobial Chemotherapy, Vol. 72, Núm. 7, pp. 2083-2088

  2. HIV type 2 epidemic in Spain: Challenges and missing opportunities

    AIDS, Vol. 31, Núm. 10, pp. 1353-1364

  3. Human T-lymphotropic virus type 1 infection and disease in Spain

    AIDS, Vol. 31, Núm. 12, pp. 1653-1663

2014

  1. DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    PLoS Genetics, Vol. 10, Núm. 4

2013

  1. Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles

    Human Mutation, Vol. 34, Núm. 12, pp. 1615-1618

  2. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

    PLoS Genetics, Vol. 9, Núm. 3

  3. The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins

    Carcinogenesis, Vol. 34, Núm. 11, pp. 2505-2511

  4. Viral infections of the central nervous system in Spain: A prospective study

    Journal of Medical Virology, Vol. 85, Núm. 3, pp. 554-562

2011

  1. Characterization of new founder alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype

    Cancer Prevention Research, Vol. 4, Núm. 10, pp. 1546-1555