Raquel Romero
Madrid, MD, Spain
Last Updated: 09/26/2026
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Found 8 publications
Cas9-targeted-based long-read sequencing for genetic screening of RPE65 locus.
Journal: Frontiers in genetics
Published: May 27, 2024
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Journal: American journal of ophthalmology
Published: January 27, 2023
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.
Journal: Clinical genetics
Published: May 25, 2022
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.
Journal: International journal of molecular sciences
Published: September 29, 2021
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.
Journal: NPJ genomic medicine
Published: July 23, 2021
Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia.
Journal: Journal of medical genetics
Published: February 20, 2020
Showing 1-8 of 8
Last Updated: 09/26/2026