Publicacions en col·laboració amb investigadors/es de Johns Hopkins University School of Medicine (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. Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH

    European Respiratory Journal, Vol. 61, Núm. 2

2022

  1. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

    American Journal of Human Genetics, Vol. 109, Núm. 10, pp. 1867-1884

2020

  1. Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

    Journal of Intellectual Disability Research, Vol. 64, Núm. 12, pp. 956-969

2018

  1. Further delineation of Malan syndrome

    Human Mutation, Vol. 39, Núm. 9, pp. 1226-1237

2005

  1. Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis

    American Journal of Human Genetics, Vol. 76, Núm. 5, pp. 729-749