Author

Eugenio Aztiria

Consejo Nacional de Investigaciones Científicas y Técnicas

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 1 Organism:mouse· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ezequiel RíasiD· 2 shared Guillermo F. SpitzmauliD· 2 shared Leonardo DionisioiD· 2 shared Camila Carignano· 1 shared Esteban Pablo Barila· 1 shared Gregorietti Franco· 1 shared Leandro Dye· 1 shared Leonardo Onetto L.iD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ezequiel RíasORCID

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2 papers

Recent·Most cited

First report of genetic variants detected in Argentinian patients with clinical Long QT Syndrome diagnosis

Leonardo Dionisio, Stupniki Sofía, Eugenio Aztiria, Ezequiel Rías, Leandro Dye, Leonardo Onetto L., Gregorietti Franco, Roberto O. Keegan, Guillermo F. Spitzmaul

The paper reports genetic variants in LQTS-associated genes from Argentinian patients, identifying a novel exon deletion in KCNQ1 and correlating these with clinical diagnoses.

medRxiv · Feb 15, 2023 · PreprintGenetic & Genomic Medicine

Inner hair cell and neuron degeneration contribute to hearing loss in a DFNA2-like mouse model

Camila Carignano, Esteban Pablo Barila, Ezequiel Rías, Leonardo Dionisio, Eugenio Aztiria, Guillermo F. Spitzmaul

This study shows that inner hair cell and neuron degeneration occur later and faster than outer hair cell loss in Kcnq4-/- mice, mimicking DFNA2 hearing loss.

Neuroscience · May 16, 2019Peer-reviewedNeuroscience