prof. dr. Frauke Coppieters
- ORCID iD
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0000-0001-7224-0992
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- Journal Article
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- open access
A proteogenomic atlas of the human neural retina
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- Journal Article
- A1
- open access
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci
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- Journal Article
- A1
- open access
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
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A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease
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Unraveling the genetic basis of early-onset inherited retinal disease in a Saudi Arabian cohort reveals a novel RIMS2-related family
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.114-114 -
An integrated approach using multi-omics data to dissect cis-regulatory role of ultraconserved non-coding elements (UCNEs) in human retina
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.5-5 -
Identification and characterization of a novel retinaspecific lncRNA upstream ABCA4 with a potential role in ABCA4-associated inherited retinal disease
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.78-79 -
Dual molecular effects of constitutional SF3B2 variants cause a novel dominant spliceosomopathy displaying retinitis pigmentosa or developmental skeletal anomalies
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.71-71 -
Single domain antibodies to study orphan receptors and tackle their mutant counterpart with dominant-negative effect
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- Journal Article
- A1
- open access
Differential protease content of mast cells and the processing of IL-33 in Alternaria alternata induced allergic airway inflammation in mice