Publicaciones en colaboración con investigadores/as de Hospital Universitario Marqués de Valdecilla (29)

2024

  1. Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry

    Digestive Diseases, Vol. 42, Núm. 3, pp. 257-264

  2. Serum and Urine Metabolomic Profiling of Newly Diagnosed Treatment-Naïve Inflammatory Bowel Disease Patients

    Inflammatory Bowel Diseases, Vol. 30, Núm. 2, pp. 167-182

2023

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

    Nature

  2. Adaptation, reliability and validity of health-related quality of life questionnaires: Disabkids chronic and specific diabetes disease in children and adolescents with diabetes mellitus type 1

    Endocrinologia, Diabetes y Nutricion, Vol. 70, pp. 18-26

  3. Characteristics and management of patients with SARS-CoV2 infection admitted to pediatric intensive care units: Data analysis of the Spanish national multicenter registry

    Pediatric Pulmonology, Vol. 58, Núm. 10, pp. 2916-2929

  4. Effectiveness and Safety of Ustekinumab in Elderly Patients with Crohn's Disease: Real World Evidence From the ENEIDA Registry

    Journal of Crohn's & colitis, Vol. 17, Núm. 1, pp. 83-91

  5. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973

  6. Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

    PloS one, Vol. 18, Núm. 7, pp. e0287515

2022

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

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

  2. Risk factors and bronchopulmonary dysplasia severity: data from the Spanish Bronchopulmonary Dysplasia Research Network

    European Journal of Pediatrics, Vol. 181, Núm. 2, pp. 789-799

2021

  1. Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study

    Molecular Psychiatry, Vol. 26, Núm. 9, pp. 5307-5319

  2. Outbreak of Enterovirus Infection with Neurological Presentations in a Pediatric Population in Northern Spain: A Clinical Observational Study

    Neuropediatrics, Vol. 52, Núm. 3, pp. 192-200

  3. Quality of life in attention-deficit hyperactivity disorder: Perception of parents and children

    Pediatria de Atencion Primaria, Vol. 23, Núm. 89, pp. e1-e9

2020

  1. A multicenter national survey of children with SARS-CoV-2 infection admitted to Spanish Pediatric Intensive Care Units

    Intensive Care Medicine

  2. Neonatal Infection Due to SARS-CoV-2: An Epidemiological Study in Spain

    Frontiers in Pediatrics, Vol. 8

2019

  1. Clinical Characteristics, Associated Malignancies and Management of Primary Sclerosing Cholangitis in Inflammatory Bowel Disease Patients: A Multicentre Retrospective Cohort Study

    Journal of Crohn's & colitis, Vol. 13, Núm. 12, pp. 1492-1500

  2. Effectiveness and safety of the switch from remicade® to CT-P13 in patients with inflammatory bowel disease

    Journal of Crohn's and Colitis, Vol. 13, Núm. 11, pp. 1380-1386

2018

  1. A polygenic risk score analysis of psychosis endophenotypes across brain functional, structural, and cognitive domains

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 177, Núm. 1, pp. 21-34

  2. Associations between psychosis endophenotypes across brain functional, structural, and cognitive domains

    Psychological Medicine, Vol. 48, Núm. 8, pp. 1325-1340

  3. Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

    BMC Medical Genomics, Vol. 11, Núm. 1