Daniel F. Schorderet

Lausanne, VD, Switzerland

Last Updated: 09/26/2026

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Found 90 publications

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

Journal: Ophthalmic genetics
Published: March 08, 2026

Exploring the molecular basis of microphthalmia and anophthalmia: Insights from an Egyptian cohort.

Exploring the molecular basis of microphthalmia and anophthalmia: Insights from an Egyptian cohort.

Journal: Molecular vision
Published: August 19, 2025

Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1.

Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1.

Journal: Ophthalmology science
Published: March 03, 2024

Analysis of Suspected Achromatopsia by Multimodal Diagnostic Testing.

Analysis of Suspected Achromatopsia by Multimodal Diagnostic Testing.

Journal: Klinische Monatsblatter fur Augenheilkunde
Published: September 15, 2023

Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.

Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.

Journal: Ophthalmic research
Published: June 07, 2023

New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family.

New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family.

Journal: Investigative ophthalmology & visual science
Published: March 25, 2022

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.

Journal: International journal of molecular sciences
Published: March 07, 2022

Incomplete Recovery of Zebrafish Retina Following Cryoinjury.

Incomplete Recovery of Zebrafish Retina Following Cryoinjury.

Journal: Cells
Published: February 13, 2022

Premature Vertebral Mineralization in hmx1-Mutant Zebrafish.

Premature Vertebral Mineralization in hmx1-Mutant Zebrafish.

Journal: Cells
Published: February 12, 2022

Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography.

Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography.

Journal: Genes
Published: July 26, 2021

Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.

Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.

Journal: Ophthalmic genetics
Published: July 26, 2021

Homozygous mutation in ABCA4 associated with cone rod dystrophy in a patient with Turner syndrome.

Homozygous mutation in ABCA4 associated with cone rod dystrophy in a patient with Turner syndrome.

Journal: La Tunisie medicale
Published: April 26, 2021
Showing 1-12 of 90

Last Updated: 09/26/2026