Julien Navarro
Paris, France
Last Updated: 09/26/2026
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Found 16 publications
EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness.
Journal: JAMA ophthalmology
Published: December 04, 2025
Identification and functional validation of a novel disease-causing variant in the noncoding region of NYX.
Journal: Acta ophthalmologica
Published: October 17, 2025
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic retinal degeneration.
Journal: Research square
Published: June 05, 2025
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity.
Journal: NPJ genomic medicine
Published: April 22, 2025
PCARE-Associated Retinopathy - Genetics, Clinical Characteristics, and Natural History.
Journal: Investigative ophthalmology & visual science
Published: April 22, 2025
Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy.
Journal: Investigative ophthalmology & visual science
Published: April 02, 2025
The ITM2B-associated retinal dystrophy mutation modifies BRI23 peptide interactions in the human retina.
Journal: Scientific reports
Published: March 03, 2025
Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 12, 2024
RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes.
Journal: American journal of ophthalmology
Published: December 20, 2023
Last Updated: 09/26/2026