Xavier Zanlonghi

Bretagne, France

Last Updated: 09/26/2026

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Found 58 publications

Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy.

Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy.

Journal: JAMA ophthalmology
Published: April 09, 2026

Expanding phenotypic and genotypic spectrum of PDE6C-associated retinal disorders.

Expanding phenotypic and genotypic spectrum of PDE6C-associated retinal disorders.

Journal: Eye (London, England)
Published: April 02, 2026

Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion.

Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion.

Journal: Ophthalmology science
Published: February 13, 2026

Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.

Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.

Journal: Investigative ophthalmology & visual science
Published: September 02, 2025

RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and women.

RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and women.

Journal: Human genetics
Published: April 23, 2025

Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy.

Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy.

Journal: Investigative ophthalmology & visual science
Published: April 02, 2025

The phenotypic spectrum of CEP250 gene variants.

The phenotypic spectrum of CEP250 gene variants.

Journal: Ophthalmic genetics
Published: November 29, 2024

Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST1.

Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST1.

Journal: Ophthalmic genetics
Published: July 03, 2024

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

Journal: Research square
Published: February 26, 2024

Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.

Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.

Journal: European journal of human genetics : EJHG
Published: February 16, 2024

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

Journal: NPJ genomic medicine
Published: January 17, 2024

Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.

Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.

Journal: American journal of human genetics
Published: January 12, 2024
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Last Updated: 09/26/2026