Christel Condroyer

Paris, France

Last Updated: 09/26/2026

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Found 64 publications

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

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

EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness.

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.

Identification and functional validation of a novel disease-causing variant in the noncoding region of NYX.

Journal: Acta ophthalmologica

Published: October 17, 2025

Autosomal Recessive Bestrophinopathy-Phenotypic Variability, Natural History, and Genotype-Phenotype Correlations.

Autosomal Recessive Bestrophinopathy-Phenotypic Variability, Natural History, and Genotype-Phenotype Correlations.

Journal: American journal of ophthalmology

Published: October 08, 2025

Variants in the ciliopathy gene SCLT1 are associated with non-syndromic retinal degeneration.

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.

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.

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.

Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy.

Journal: Investigative ophthalmology & visual science

Published: April 02, 2025

Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa.

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

Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC lines.

Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC lines.

Journal: Stem cell research

Published: July 08, 2024

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.

Journal: Clinical genetics

Published: May 13, 2024

Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degeneration.

Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degeneration.

Journal: Progress in retinal and eye research

Published: April 14, 2024

Showing 1-12 of 64

Last Updated: 09/26/2026