Publicacións en colaboración con investigadores/as de Leiden University Medical Center (6)

2025

  1. Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants

    Journal of the American Society of Nephrology

2023

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

    Nature

2009

  1. Unified criteria for ultrasonographic diagnosis of ADPKD

    Journal of the American Society of Nephrology, Vol. 20, Núm. 1, pp. 205-212

2003

  1. Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

    Journal of the American Society of Nephrology, Vol. 14, Núm. 5, pp. 1164-1174

2000

  1. Location of mutations within the PKD2 gene influences clinical outcome

    Kidney International

1997

  1. A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)

    American Journal of Human Genetics, Vol. 61, Núm. 3, pp. 547-555