Publicacións en colaboración con investigadores/as de Hospital Universitario Virgen del Rocío (10)

2023

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

    Genes, Vol. 14, Núm. 10

2022

  1. SARS-CoV-2 Evolution and Spike-Specific CD4+ T-Cell Response in Persistent COVID-19 with Severe HIV Immune Suppression

    Microorganisms, Vol. 10, Núm. 1

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

  3. 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

2010

  1. New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping

    Molecular Vision, Vol. 16, pp. 137-143

2009

  1. Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations

    Investigative Ophthalmology and Visual Science, Vol. 50, Núm. 3, pp. 1065-1068

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

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

1995

  1. Retinitis pigmentosa in Spain

    Clinical Genetics, Vol. 48, Núm. 3, pp. 120-122