Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (18)

2024

  1. A Systematic Review on Heritability of Sudden Sensorineural Hearing Loss

    Laryngoscope, Vol. 134, Núm. 8, pp. 3447-3457

  2. A Systematic Review on the Genetic Contribution to Tinnitus

    JARO - Journal of the Association for Research in Otolaryngology, Vol. 25, Núm. 1, pp. 13-33

  3. A systematic review on the contribution of DNA methylation to hearing loss

    Clinical Epigenetics, Vol. 16, Núm. 1

  4. An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population

    Human Genetics, Vol. 143, Núm. 3, pp. 423-435

  5. Clinical practice guideline on the management of vestibular schwannoma

    Acta Otorrinolaringologica Espanola, Vol. 75, Núm. 2, pp. 108-128

  6. Cognitive Screening and Hearing Assessment in Patients With Chronic Tinnitus

    Clinical and Experimental Otorhinolaryngology, Vol. 17, Núm. 1, pp. 15-25

  7. Cytokine profiling and transcriptomics in mononuclear cells define immune variants in Meniere Disease

    Genes and Immunity, Vol. 25, Núm. 2, pp. 124-131

  8. Phenotypic spectrum of tinnitus patients bearing rare ANK2 gene variants

    European Archives of Oto-Rhino-Laryngology, Vol. 281, Núm. 8, pp. 4071-4080

  9. Rafael Lorente de Nó (1902–1990)

    Journal of Neurology, Vol. 271, Núm. 7, pp. 4727-4729

  10. Rare Deletions or Large Duplications Contribute to Genetic Variation in Patients with Severe Tinnitus and Meniere Disease

    Genes, Vol. 15, Núm. 1

2023

  1. A systematic review on machine learning approaches in the diagnosis and prognosis of rare genetic diseases

    Journal of Biomedical Informatics, Vol. 143

  2. Domingo Sánchez y Sánchez (1860–1947): Cajal’s man on the nervous system of invertebrates

    Frontiers in Neuroanatomy, Vol. 17

  3. The vestibular system: Contributions of Lorente de Nó

    Journal of Vestibular Research: Equilibrium and Orientation, Vol. 33, Núm. 5, pp. 287-297

  4. Types of Inheritance and Genes Associated with Familial Meniere Disease

    JARO - Journal of the Association for Research in Otolaryngology, Vol. 24, Núm. 3, pp. 269-279

2022

  1. A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss

    European Journal of Human Genetics, Vol. 30, Núm. 11, pp. 1301-1305

  2. Balance Disorders Including Ménière’s Disease

    Comprehensive Pharmacology (Elsevier), pp. 770-782

  3. Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus

    npj Genomic Medicine, Vol. 7, Núm. 1

2008

  1. A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

    Human Mutation, Vol. 29, Núm. 6, pp. 823-831