Miguel A. Pelayo-Moreno

Madrid, MD 28029, Spain

Last Updated: 09/26/2026

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Found 36 publications

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

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.

Functional assessment of inherited myeloid neoplasm-associated SAMD9L germline variants via Monoallelic CRISPR modelling.

Journal: British journal of haematology

Published: January 12, 2026

Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.

Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.

Journal: Cellular and molecular life sciences : CMLS

Published: October 08, 2025

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 09, 2025

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

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

De Novo Heterozygous GATA3 Missense Variant Causes an Unexpected Phenotype of Non-Syndromic Hearing Impairment with Apparently Recessive Inheritance.

De Novo Heterozygous GATA3 Missense Variant Causes an Unexpected Phenotype of Non-Syndromic Hearing Impairment with Apparently Recessive Inheritance.

Journal: International journal of molecular sciences

Published: May 23, 2025

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 24, 2024

Constitutional Mutation of PIK3CA: A Variant of Cowden Syndrome?

Constitutional Mutation of PIK3CA: A Variant of Cowden Syndrome?

Journal: Genes

Published: July 05, 2024

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

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

Journal: Genes

Published: June 24, 2024

Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations.

Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations.

Journal: Genome medicine

Published: March 07, 2024

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

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.

Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse.

Journal: EMBO molecular medicine

Published: February 21, 2023

Showing 1-12 of 36

Last Updated: 09/26/2026