Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (5)

2024

  1. 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

  2. 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. 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