Publicaciones en colaboración con investigadoras/es de University College London (6)

2024

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

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

2023

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

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

2016

  1. Reduced risk of pulmonary emboli in children treated with long-term parenteral nutrition

    Clinical Nutrition, Vol. 35, Núm. 6, pp. 1406-1413

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. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Núm. 7, pp. 3105-3110