Matías Morín

14PUBLICATIONS
60CO-AUTHORS
Gene and molecular therapyPharmacogenomicsEpigenetics (incl. genome methylation and epigenomics)NeurogeneticsCellular nervous system
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Publications (14)

|Aug 28, 2026
Functional assessment of inherited myeloid neoplasm-associated SAMD9L germline variants via Monoallelic CRISPR modelling.

|May 04, 2026
Analytical and Clinical Validation of Action PharmaKitDx: A Comprehensive NGS Panel for the Identification of Pharmacogenetic Variants in Diverse Populations.

|May 28, 2025
Safe and Efficacious Permanent Removal of Large COL7A1 Exons for Gene Reframing as a Reliable Therapeutic Strategy for Recessive Dystrophic Epidermolysis Bullosa.

Sergio López-Manzaneda, Ángeles Mencía, José Bonafont

|Jul 27, 2024
Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.

María Domínguez-Ruiz, Margarita Olarte, Esther Onecha

|Nov 25, 2023
Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects.

María Domínguez-Ruiz, Laura Ruiz-Palmero, Paula I Buonfiglio

|Sep 11, 2023
Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse.

Guang-Jie Zhu, Yuhang Huang, Linqing Zhang

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Frequent Collaborators

12 joint publications

Miguel Ángel Moreno-Pelayo

4 joint publications

Ignacio Del Castillo

3 joint publications

María Domínguez-Ruiz

3 joint publications

Lucia Soletto