Publicacións nas que colabora con José Antonio López Escámez (105)

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. Cognitive Screening and Hearing Assessment in Patients With Chronic Tinnitus

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

  6. Correction: A systematic review on the contribution of DNA methylation to hearing loss (Clinical Epigenetics, (2024), 16, 1, (88), 10.1186/s13148-024-01697-9)

    Clinical Epigenetics

  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. Multiomic-based immune response profiling in migraine, vestibular migraine and Meniere's disease

    Immunology

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

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

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

    Genes, Vol. 15, Núm. 1

  11. Update on the pathophysiology, diagnosis and management of Meniere’s disease

    Current Opinion in Otolaryngology and Head and Neck Surgery, Vol. 32, Núm. 5, pp. 306-312

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. Balance Disorders Including Ménière’s Disease

    Comprehensive Pharmacology (Elsevier), pp. 770-782

  3. Clasificación del síndrome vestibular. Síndrome vestibular agudo. Neuritis vestibular y otros síndromes

    Manual de otorrinolaringología (Avicam), pp. 153-162