José Antonio López Escámez-rekin lankidetzan egindako argitalpenak (12)

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

    Genes, Vol. 14, Núm. 4

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. Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease

    Hearing Research, Vol. 409

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

  4. Systematic review of sequencing studies and gene expression profiling in familial meniere disease

    Genes, Vol. 11, Núm. 12, pp. 1-17

2019

  1. Excess of Rare Missence Variants in Hearing Loss Genes in Sporadic Meniere Disease

    Frontiers in Genetics, Vol. 10, Núm. FEB

2018

  1. Genetics of vestibular syndromes

    Current Opinion in Neurology, Vol. 31, Núm. 1, pp. 105-110