Publicacions en col·laboració amb investigadors/es de University Medical Center Utrecht (12)

2024

  1. Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

    Scientific Reports, Vol. 14, Núm. 1

2023

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

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

2022

  1. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Genetics in Medicine, Vol. 24, Núm. 11, pp. 2351-2366

2019

  1. Expert panel diagnosis demonstrated high reproducibility as reference standard in infectious diseases

    Journal of Clinical Epidemiology, Vol. 112, pp. 20-27

2018

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

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

2017

  1. Inhibition of Polo-like kinase 1 during the DNA damage response is mediated through loss of Aurora A recruitment by Bora

    Oncogene, Vol. 36, Núm. 13, pp. 1840-1848

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

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

2010

  1. Effect of nateglinide on the incidence of diabetes and cardiovascular events

    New England Journal of Medicine, Vol. 362, Núm. 16, pp. 1463-1476

  2. Effect of valsartan on the incidence of diabetes and cardiovascular events

    New England Journal of Medicine, Vol. 362, Núm. 16, pp. 1477-1490

2007

  1. Relative predispositional effects of HLA class II DRB1-DQB1 haplotypes and genotypes on type 1 diabetes: A meta-analysis

    Tissue Antigens, Vol. 70, Núm. 2, pp. 110-127