Publicacions en col·laboració amb investigadors/es de Radboud University Nijmegen Medical Centre (15)

2024

  1. Stratified analyses refine association between TLR7 rare variants and severe COVID-19

    Human Genetics and Genomics Advances, Vol. 5, Núm. 4

2023

  1. Germline mutations in WNK2 could be associated with serrated polyposis syndrome

    Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 557-567

2022

  1. Genetics, pathobiology and therapeutic opportunities of polycystic liver disease

    Nature Reviews Gastroenterology and Hepatology, Vol. 19, Núm. 9, pp. 585-604

  2. Targeting NAE1-mediated protein hyper-NEDDylation halts cholangiocarcinogenesis and impacts on tumor-stroma crosstalk in experimental models

    Journal of Hepatology, Vol. 77, Núm. 1, pp. 177-190

2021

  1. Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders

    Nature Genetics, Vol. 53, Núm. 11, pp. 1543-1552

  2. Inhibition of NAE-dependent protein hyper-NEDDylation in cystic cholangiocytes halts cystogenesis in experimental models of polycystic liver disease

    United European Gastroenterology Journal, Vol. 9, Núm. 7, pp. 848-859

  3. Targeting UBC9-mediated protein hyper-SUMOylation in cystic cholangiocytes halts polycystic liver disease in experimental models

    Journal of Hepatology, Vol. 74, Núm. 2, pp. 394-406

2020

  1. Personalised surveillance for serrated polyposis syndrome: Results from a prospective 5-year international cohort study

    Gut, Vol. 69, Núm. 1, pp. 112-121

  2. Proteostasis disturbances and endoplasmic reticulum stress contribute to polycystic liver disease: New therapeutic targets

    Liver International, Vol. 40, Núm. 7, pp. 1670-1685

2019

  1. Low Incidence of Advanced Neoplasia in Serrated Polyposis Syndrome After (Sub)total Colectomy: Results of a 5-Year International Prospective Cohort Study

    American Journal of Gastroenterology, Vol. 114, Núm. 9, pp. 1512-1519

2018

  1. Female-Specific Association Between Variants on Chromosome 9 and Self-Reported Diagnosis of Irritable Bowel Syndrome

    Gastroenterology, Vol. 155, Núm. 1, pp. 168-179

  2. MicroRNAs and extracellular vesicles in cholangiopathies

    Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1864, Núm. 4, pp. 1293-1307

2017

  1. New Advances in Polycystic Liver Diseases

    Seminars in Liver Disease

2016

  1. Ursodeoxycholic acid in advanced polycystic liver disease: A phase 2 multicenter randomized controlled trial

    Journal of Hepatology, Vol. 65, Núm. 3, pp. 601-607

2015

  1. Ursodeoxycholic acid inhibits hepatic cystogenesis in experimental models of polycystic liver disease

    Journal of Hepatology, Vol. 63, Núm. 4, pp. 952-961