Publicaciones en colaboración con investigadoras/es de University of Groningen (12)

2024

  1. The Human Phenotype Ontology in 2024: phenotypes around the world

    Nucleic acids research, Vol. 52, Núm. D1, pp. D1333-D1346

2023

  1. Clinical and genetic characteristics of Dent's disease type 1 in Europe

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 6, pp. 1497-1507

  2. Treatment and long-term outcome in primary nephrogenic diabetes insipidus

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130

2022

  1. Current clinical practice for thromboprophylaxis management in patients with Cushing’s syndrome across reference centers of the European Reference Network on Rare Endocrine Conditions (Endo-ERN)

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

2020

  1. A two-sample mendelian randomization analysis investigates associations between gut microbiota and celiac disease

    Nutrients, Vol. 12, Núm. 5

2018

  1. DNA methylation in childhood asthma: an epigenome-wide meta-analysis

    The Lancet Respiratory Medicine, Vol. 6, Núm. 5, pp. 379-388

  2. Doxorubicin-induced DNA damage causes extensive ubiquitination of ribosomal proteins associated with a decrease in protein translation

    Molecular and Cellular Proteomics, Vol. 17, Núm. 12, pp. 2297-2308

2014

  1. Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant

    Human Molecular Genetics, Vol. 23, Núm. 9, pp. 2481-2489

  2. Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants

    Gut, Vol. 63, Núm. 3, pp. 415-422

  3. THEMIS and PTPRK in celiac intestinal mucosa: Coexpression in disease and after in vitro gliadin challenge

    European Journal of Human Genetics, Vol. 22, Núm. 3, pp. 358-362

2012

  1. Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

    Nature Genetics

2011

  1. Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

    Nature Genetics, Vol. 43, Núm. 12, pp. 1193-1201