On January 7, 2022, the work of the human genetics line of the laboratory of Physiology and Genetics of Hearing in Scientific Reports (https://www.nature.com/articles/s41598-021-04081-2). This publication is part of the results carried out in the laboratory directed by Dr. Ana Belén Elgoyen, by the doctoral fellow Paula Buonfiglio under the direction of Dr. Viviana Dalamón. In addition, work was done in collaboration with Dr. Carlos David Bruque from the Patagonian Hospital Translational Knowledge Unit (UCTHP), SAMIC El Calafate.

This work deals with the latest generation genetic study (Massive Exomic Sequencing) carried out in a large cohort of patients with hereditary hearing loss. In the work, new genetic variants are identified in various genes and an exhaustive analysis is carried out on the protein structures involved. The results expand the basic and applied knowledge in auditory pathophysiology and are a reflection of the translational study carried out in the laboratory.