Marta Valero-Del Pozo

Madrid, MD 28029, Spain

Last Updated: 09/26/2026

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Found 25 publications

Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.

Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.

Journal: International journal of molecular sciences

Published: February 12, 2025

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

Journal: NPJ genomic medicine

Published: October 01, 2024

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

Journal: International journal of molecular sciences

Published: February 01, 2024

Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.

Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.

Journal: Clinical genetics

Published: December 20, 2023

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.

Journal: Frontiers in genetics

Published: June 03, 2023

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.

Journal: American journal of ophthalmology

Published: January 27, 2023

Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks.

Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks.

Journal: International journal of molecular sciences

Published: October 30, 2022

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.

Journal: International journal of molecular sciences

Published: June 23, 2022

Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years.

Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years.

Journal: GeroScience

Published: May 13, 2022

Prevalence, multimodal imaging and genotype-phenotype assessment of trauma related subretinal fibrosis in stargardt disease.

Prevalence, multimodal imaging and genotype-phenotype assessment of trauma related subretinal fibrosis in stargardt disease.

Journal: European journal of ophthalmology

Published: April 15, 2022

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Journal: Investigative ophthalmology & visual science

Published: February 04, 2022

Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.

Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.

Journal: Scientific reports

Published: December 30, 2021

Showing 1-12 of 25

Last Updated: 09/26/2026