Miguel Ángel Moreno-Pelayo

19PUBLICATIONS
115CO-AUTHORS
Gene and molecular therapyPharmacogenomicsVision scienceNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)
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Publications (19)

|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.

|Jan 13, 2026
Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.

Sander Bervoets, Lonneke Duijkers, Hedwig M Velde

|Jul 12, 2025
De Novo Heterozygous GATA3 Missense Variant Causes an Unexpected Phenotype of Non-Syndromic Hearing Impairment with Apparently Recessive Inheritance.

María Domínguez-Ruiz, Gema Garrido, Paz Martínez-Beneyto

|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

|Sep 28, 2024
Constitutional Mutation of PIK3CA: A Variant of Cowden Syndrome?

Elena Vida-Navas, Verónica Barca-Tierno, Victoria López-Gómez

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Frequent Collaborators

12 joint publications

Matías Morín

7 joint publications

Ignacio Del Castillo

5 joint publications

María Domínguez-Ruiz

3 joint publications

Lucia Soletto