Pilar Martinez-Barberan
Valencia, VC, Spain
Last Updated: 09/26/2026
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Found 13 publications
COQ8 chaperones coenzyme Q lipid intermediates through ATP-driven structural gating.
Journal: Science advances
Published: July 29, 2026
Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.
Journal: Research square
Published: July 17, 2026
Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients.
Journal: Investigative ophthalmology & visual science
Published: February 05, 2026
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Journal: The Journal of molecular diagnostics : JMD
Published: September 02, 2025
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
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Journal: Eye (London, England)
Published: March 10, 2025
Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.
Journal: Human genomics
Published: February 10, 2025
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
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.
Journal: European journal of human genetics : EJHG
Published: May 02, 2024
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.
Journal: Frontiers in genetics
Published: December 07, 2023
Last Updated: 09/26/2026