Publicaciones en colaboración con investigadores/as de Hospital Universitario Virgen del Rocío (14)

2024

  1. HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases

    Genes, Vol. 15, Núm. 6

  2. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

2022

  1. A multicriteria decision analysis (MCDA) applied to three long-term prophylactic treatments for hereditary angioedema in Spain

    Global and Regional Health Technology Assessment, Vol. 9, pp. 14-21

  2. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  3. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Frontiers in Genetics, Vol. 13

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. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

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

    Scientific Reports, Vol. 11, Núm. 1

2018

  1. Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus

    Medicine (United States), Vol. 97, Núm. 29

2015

  1. Síndrome cardiofaciocutáneo, un trastorno relacionado con el síndrome de Noonan: hallazgos clínicos y moleculares en 11 pacientes

    Medicina Clinica, Vol. 144, Núm. 2, pp. 67-72

2013

  1. Clinical manifestations in female carriers of mucopolysaccharidosis type II: A spanish cross-sectional study

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

2010

  1. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

    European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962

  2. The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

    Journal of Medical Genetics, Vol. 47, Núm. 9, pp. 640-642