prof. dr. Frauke Coppieters
- ORCID iD
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0000-0001-7224-0992
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- Journal Article
- A1
- open access
A rare 5’UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta : a roadmap for RNA therapeutic rescue
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DNA sample tracking for diagnostic exome sequencing : a 1-year experience
(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.962-962 -
- Journal Article
- A1
- open access
Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches
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Cost-effective multiplex digital PCR quantification using universal Rainbow detection probes
(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.965-966 -
Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR variant in the RDH12 gene
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Design and evaluation of universal control antisense oligonucleotides across cellular models
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TurboID proximity interactome mapping reveals NR2E3 association with AP-1 and retinal developmental complexes
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BioID reveals that NR2E3 mediates transcriptional repression through the AP-1 complex
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- Journal Article
- A1
- open access
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)
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- Journal Article
- A1
- open access
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