Publications en collaboration avec des chercheurs de Hospital Universitario La Fe (9)

2023

  1. Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature

    Genes, Vol. 14, Núm. 10

2021

  1. Spread of a SARS-CoV-2 variant through Europe in the summer of 2020

    Nature, Vol. 595, Núm. 7869, pp. 707-712

  2. The first wave of the COVID-19 epidemic in Spain was associated with early introductions and fast spread of a dominating genetic variant

    Nature Genetics, Vol. 53, Núm. 10, pp. 1405-1414

2007

  1. Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients

    Investigative Ophthalmology and Visual Science, Vol. 48, Núm. 3, pp. 985-990

2006

  1. Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

    Journal of medical genetics, Vol. 43, Núm. 11

  2. Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.

    Human mutation, Vol. 27, Núm. 3, pp. 290-291

2005

  1. Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration

    Molecular Vision, Vol. 11, pp. 922-928

1997

  1. Putative association of a mutant ROM1 allele with retinitis pigmentosa

    Human Genetics, Vol. 99, Núm. 6, pp. 827-830

1995

  1. Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families

    Human Genetics, Vol. 96, Núm. 1, pp. 89-94