José Antonio López Escámez-rekin lankidetzan egindako argitalpenak (32)

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, Vol. 143, Núm. 3, pp. 423-435

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

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

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

    Cells, Vol. 12, Núm. 7

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

    Trials, Vol. 24, Núm. 1

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. Defective α‐tectorin may involve tectorial membrane in familial Meniere disease

    Clinical and Translational Medicine

  3. 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

  4. Genetic Inheritance and Its Contribution to Tinnitus

    Current Topics in Behavioral Neurosciences (Springer Science and Business Media Deutschland GmbH), pp. 29-47

  5. Identification of Potential Meniere's Disease Targets in the Adult Stria Vascularis

    Frontiers in Neurology, Vol. 12

  6. Towards a unification of treatments and interventions for tinnitus patients: The EU research and innovation action UNITI

    Progress in Brain Research (Elsevier B.V.), pp. 441-451

  7. Unification of Treatments and Interventions for Tinnitus Patients (UNITI): a study protocol for a multi-center randomized clinical trial

    Trials, Vol. 22, Núm. 1

2020

  1. Burden of Rare Variants in the OTOG Gene in Familial Meniere's Disease

    Ear and Hearing, Vol. 41, Núm. 6, pp. 1598-1605

  2. Clinical and molecular genetics of Meniere disease

    Medizinische Genetik, Vol. 32, Núm. 2, pp. 141-148

  3. Enrichment of damaging missense variants in genes related with axonal guidance signalling in sporadic Meniere's disease

    Journal of Medical Genetics, Vol. 57, Núm. 2, pp. 82-88