Frauke Coppieters

Gent, VLG, Belgium

Last Updated: 09/26/2026

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Found 45 publications

Retina-specific long non-coding RNAs associated with inherited retinal disease genes.

Retina-specific long non-coding RNAs associated with inherited retinal disease genes.

Journal: Cellular and molecular life sciences : CMLS
Published: February 13, 2026

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs).

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.

RetiGene, a comprehensive gene atlas for inherited retinal diseases.

Journal: American journal of human genetics
Published: June 10, 2025

Generation of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A];[806_810del] variants in the RDH12 gene.

Generation of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A];[806_810del] variants in the RDH12 gene.

Journal: Stem cell research
Published: March 14, 2025

A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue.

A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue.

Journal: Scientific reports
Published: February 27, 2025

A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.

A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.

Journal: Human molecular genetics
Published: October 25, 2024

Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa.

Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 30, 2024

Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.

Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.

Journal: Genome research
Published: September 24, 2024

A proteogenomic atlas of the human neural retina.

A proteogenomic atlas of the human neural retina.

Journal: Frontiers in genetics
Published: June 18, 2024

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.

Journal: Genome medicine
Published: June 16, 2023

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Journal: Frontiers in cell and developmental biology
Published: November 30, 2022

Differential protease content of mast cells and the processing of IL-33 in Alternaria alternata induced allergic airway inflammation in mice.

Differential protease content of mast cells and the processing of IL-33 in Alternaria alternata induced allergic airway inflammation in mice.

Journal: Frontiers in immunology
Published: September 09, 2022
Showing 1-12 of 45

Last Updated: 09/26/2026