Publicaciones en colaboración con investigadores/as de University of Cologne (13)

2023

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

    Nature

  2. Primary Hyperoxaluria

    Pediatric Kidney Disease (Springer International Publishing), pp. 795-819

2021

  1. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

2019

  1. GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

    Nature Communications, Vol. 10, Núm. 1

2018

  1. Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

    Scientific Reports, Vol. 8, Núm. 1

2016

  1. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

2014

  1. Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

    Nature Genetics, Vol. 46, Núm. 11, pp. 1239-1244

2013

  1. Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

    European Journal of Human Genetics, Vol. 21, Núm. 2, pp. 162-172

2012

  1. Guidelines for the use and interpretation of assays for monitoring autophagy

    Autophagy, Vol. 8, Núm. 4, pp. 445-544

  2. Liver cell transplantation in severe infantile oxalosisa potential bridging procedure to orthotopic liver transplantation?

    Nephrology Dialysis Transplantation, Vol. 27, Núm. 7, pp. 2984-2989

2011

  1. Association of a non-synonymous functional variant of the ITGAM gene with systemic sclerosis

    Annals of the Rheumatic Diseases

1996

  1. Regional expression of sodium pump subunit isoforms and Na+-Ca++ exchanger in the human heart

    Journal of Clinical Investigation, Vol. 98, Núm. 7, pp. 1650-1658