Lidia Caballero-Fernandez
Madrid, MD 28029, Spain
Last Updated: 09/26/2026
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Found 15 publications
Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.
Journal: medRxiv : the preprint server for health sciences
Published: February 06, 2026
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs).
Journal: bioRxiv : the preprint server for biology
Published: July 15, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseases.
Journal: American journal of human genetics
Published: June 10, 2025
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Journal: Nature genetics
Published: June 02, 2025
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
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Journal: medRxiv : the preprint server for health sciences
Published: January 20, 2025
Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB.
Journal: Scientific reports
Published: November 08, 2024
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 29, 2024
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.
Journal: American journal of human genetics
Published: September 12, 2024
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.
Journal: Molecular therapy. Nucleic acids
Published: July 11, 2024
Cas9-targeted-based long-read sequencing for genetic screening of RPE65 locus.
Journal: Frontiers in genetics
Published: May 27, 2024
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Journal: International journal of molecular sciences
Published: February 01, 2024
Last Updated: 09/26/2026