FACULTAD DE MEDICINA
Faculty
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (43)
2024
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A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis
Journal of Molecular Diagnostics, Vol. 26, Núm. 1, pp. 17-28
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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
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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
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Clinical and outcome comparison of genetically positive vs. negative patients in a large cohort of suspected familial hypocalciuric hypercalcemia
Endocrine, Vol. 83, Núm. 3, pp. 747-756
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Clinical practice guideline on the management of vestibular schwannoma
Acta Otorrinolaringologica Espanola, Vol. 75, Núm. 2, pp. 108-128
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Cytokine profiling and transcriptomics in mononuclear cells define immune variants in Meniere Disease
Genes and Immunity, Vol. 25, Núm. 2, pp. 124-131
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Rafael Lorente de Nó (1902–1990)
Journal of Neurology
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Rare Deletions or Large Duplications Contribute to Genetic Variation in Patients with Severe Tinnitus and Meniere Disease
Genes, Vol. 15, Núm. 1
2023
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A crowdsourcing database for the copy-number variation of the Spanish population
Human Genomics, Vol. 17, Núm. 1
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A second update on mapping the human genetic architecture of COVID-19
Nature
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A systematic review on machine learning approaches in the diagnosis and prognosis of rare genetic diseases
Journal of Biomedical Informatics, Vol. 143
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Application of Human Stem Cells to Model Genetic Sensorineural Hearing Loss and Meniere Disease
Cells, Vol. 12, Núm. 7
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Domingo Sánchez y Sánchez (1860–1947): Cajal’s man on the nervous system of invertebrates
Frontiers in Neuroanatomy, Vol. 17
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Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDi
Molecular Therapy Nucleic Acids, Vol. 34
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The vestibular system: Contributions of Lorente de Nó
Journal of Vestibular Research: Equilibrium and Orientation, Vol. 33, Núm. 5, pp. 287-297
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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
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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
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
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Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus
npj Genomic Medicine, Vol. 7, Núm. 1
2021
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CSVS, a crowdsourcing database of the Spanish population genetic variability
Nucleic acids research, Vol. 49, Núm. D1, pp. D1130-D1137