Matias Morin
Madrid, MD 28029, Spain
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 27 publications
Analytical and Clinical Validation of Action PharmaKitDx: A Comprehensive NGS Panel for the Identification of Pharmacogenetic Variants in Diverse Populations.
Journal: Pharmaceuticals (Basel, Switzerland)
Published: February 19, 2026
Functional assessment of inherited myeloid neoplasm-associated SAMD9L germline variants via Monoallelic CRISPR modelling.
Journal: British journal of haematology
Published: January 12, 2026
Safe and Efficacious Permanent Removal of Large COL7A1 Exons for Gene Reframing as a Reliable Therapeutic Strategy for Recessive Dystrophic Epidermolysis Bullosa.
Journal: Human gene therapy
Published: May 28, 2025
Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.
Journal: Genes
Published: June 24, 2024
Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects.
Journal: Biomedicines
Published: October 10, 2023
Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse.
Journal: EMBO molecular medicine
Published: February 21, 2023
Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides.
Journal: Frontiers in genome editing
Published: November 21, 2022
Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy.
Journal: Journal of inherited metabolic disease
Published: September 20, 2022
Selective miRNA inhibition in CD8+ cytotoxic T lymphocytes enhances HIV-1 specific cytotoxic responses.
Journal: Frontiers in immunology
Published: July 19, 2022
Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants.
Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants.
Journal: Disease models & mechanisms
Published: July 12, 2022
Evolution of CRISPR-associated endonucleases as inferred from resurrected proteins.
Journal: Nature microbiology
Published: May 24, 2022
Last Updated: 09/26/2026