Publicaciones en las que colabora con José Antonio López Escámez (64)

2024

  1. 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

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

    Human Genetics

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

    Genes and Immunity

  4. 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 crowdsourcing database for the copy-number variation of the Spanish population

    Human Genomics, Vol. 17, Núm. 1

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

    Journal of Biomedical Informatics, Vol. 143

  3. Application of Human Stem Cells to Model Genetic Sensorineural Hearing Loss and Meniere Disease

    Cells, Vol. 12, Núm. 7

  4. Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction

    Genes, Vol. 14, Núm. 4

  5. The statistical analysis plan for the unification of treatments and interventions for tinnitus patients randomized clinical trial (UNITI-RCT)

    Trials, Vol. 24, Núm. 1

  6. 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. Anatomía y fisiología de la faringe

    Manual de otorrinolaringología (Avicam), pp. 299-306

  3. Lesiones y tumores benignos de laringe

    Manual de otorrinolaringología (Avicam), pp. 407-414

  4. Patología quirúrgica glándulas salivares

    Manual de otorrinolaringología (Avicam), pp. 340-348

  5. Patología velopalatina. Roncopatías. Apnea obstructiva del sueño

    Manual de otorrinolaringología (Avicam), pp. 349-358

  6. Tumores de laringe

    Manual de otorrinolaringología (Avicam), pp. 415-424

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

    npj Genomic Medicine, Vol. 7, Núm. 1

2021

  1. Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study

    EBioMedicine, Vol. 66

  2. CSVS, a crowdsourcing database of the Spanish population genetic variability

    Nucleic acids research, Vol. 49, Núm. D1, pp. D1130-D1137

  3. Dna methylation signature in mononuclear cells and proinflammatory cytokines may define molecular subtypes in sporadic meniere disease

    Biomedicines, Vol. 9, Núm. 11