Gonzalo Moreno-Nunez

Madrid, MD 28040, Spain

Last Updated: 09/26/2026

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Found 15 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

Cas9-targeted-based long-read sequencing for genetic screening of RPE65 locus.

Cas9-targeted-based long-read sequencing for genetic screening of RPE65 locus.

Journal: Frontiers in genetics

Published: May 27, 2024

Annexin A8 deficiency delays atherosclerosis progression.

Annexin A8 deficiency delays atherosclerosis progression.

Journal: Clinical and translational medicine

Published: January 10, 2024

Correction: VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.

Correction: VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.

Journal: Human genetics

Published: July 04, 2023

Comparison of Extracellular Vesicle Isolation Methods for miRNA Sequencing.

Comparison of Extracellular Vesicle Isolation Methods for miRNA Sequencing.

Journal: International journal of molecular sciences

Published: June 02, 2023

Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.

Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.

Journal: Human genomics

Published: March 03, 2023

Analysis of Differentially Expressed MicroRNAs in Serum and Lung Tissues from Individuals with Severe Asthma Treated with Oral Glucocorticoids.

Analysis of Differentially Expressed MicroRNAs in Serum and Lung Tissues from Individuals with Severe Asthma Treated with Oral Glucocorticoids.

Journal: International journal of molecular sciences

Published: December 19, 2022

VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.

VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.

Journal: Human genetics

Published: December 02, 2022

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia.

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia.

Journal: International journal of molecular sciences

Published: December 01, 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

Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.

Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.

Journal: Clinical genetics

Published: May 25, 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 15

Last Updated: 09/26/2026