prof. dr. Frauke Coppieters

Journal Article
A1
open access

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

Osama Essawi (UGent) , Tamara Jarayseh (UGent) , Piyanoot Tapaneeyaphan (UGent) , Manon Bouckaert (UGent) , Sarah Naessens, Fransiska Malfait (UGent) , Frauke Coppieters (UGent) and Paul Coucke (UGent)

(2026) SCIENTIFIC REPORTS. 16(1).

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Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR variant in the RDH12 gene

Manon Bouckaert (UGent) , Kyana Van Acker (UGent) , Birthe Hilgen, Maria Georgiou, Filip Van Den Broeck (UGent) , Edith De Bruycker (UGent) , Alfredo Dueñas Rey, Emma Delanote (UGent) , Hanne Lenaerts (UGent) , Melita Kaltak, et al.

(2025) OTS Annual Meeting 2025, Abstracts.

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Design and evaluation of universal control antisense oligonucleotides across cellular models

Edith De Bruycker (UGent) , Manon Bouckaert (UGent) , Emma Delanote (UGent) , Leander Meuris (UGent) , Hanne Lenaerts (UGent) , Lode Denolf (UGent) , Katrien Remaut (UGent) , An Staes (UGent) , Kris Gevaert (UGent) , Steve Lefever (UGent) , et al.

(2025) Oligonucleotide Therapeutics Society, 21st Annual meeting, Abstracts.

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Miscellaneous

TurboID proximity interactome mapping reveals NR2E3 association with AP-1 and retinal developmental complexes

Edith De Bruycker (UGent) , Olivier Zwaenepoel (UGent) , Georgios Moschonas (UGent) , Delphine De Sutter (UGent) , Eva D'haene (UGent) , Charlotte Matton (UGent) , Laure Vandevelde (UGent) , JULIE VAN DE VELDE (UGent) , Quinten Mahieu (UGent) , Sara Dufour (UGent) , et al.

(2025) BioRxiv.

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BioID reveals that NR2E3 mediates transcriptional repression through the AP-1 complex

Edith De Bruycker (UGent) , Olivier Zwaenepoel (UGent) , Manon Bouckaert (UGent) , Georgios Moschonas (UGent) , Delphine De Sutter (UGent) , Louis Delhaye (UGent) , Frauke Coppieters (UGent) , Sven Eyckerman (UGent) , Jan Gettemans (UGent) and Elfride De Baere (UGent)

(2025) Genetics of Ocular Development (GoOD) 2025 meeting, Abstracts.

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open access

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

Mathieu Quinodoz, Elifnaz Celik, Dhryata Kamdar, Francesca Cancellieri, Karolina Kaminska, Mukhtar Ullah, Pilar Barberán-Martínez, Manon Bouckaert (UGent) , Marta Cortón, Emma Delanote (UGent) , et al.

(2025) AMERICAN JOURNAL OF HUMAN GENETICS. 12(10). p.2253-2265

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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

Manon Bouckaert (UGent) , Filip Van Den Broeck (UGent) , M. Ghazvini, Alfredo Dueñas Rey, Hanne Lenaerts (UGent) , Annelies Dheedene (UGent) , Kathleen Claes (UGent) , Elfride De Baere (UGent) , Bart Leroy (UGent) , Julie De Zaeytijd (UGent) , et al.

(2025) STEM CELL RESEARCH. 86.

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Journal Article
A1
open access

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

Tamar Hayman, Shai Ovadia, Jaya Krishnan, Manon Bouckaert (UGent) , Daan M. Panneman, Milton English, Johanna Valensi, Frans P.M. Cremers, Tamar Ben Yosef, L. Ingeborgh van den Born, et al.

(2025) GENETICS IN MEDICINE. 27(7).

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Journal Article
A1
open access

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

Julio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele (UGent) , Karolina Kaminska, Katarina Jovanovic, Pascal Escher, Filip Van Den Broeck (UGent) , Francesca Cancellieri, Vasileios Toulis, Bart Leroy (UGent) , et al.

(2025) HUMAN MOLECULAR GENETICS. 34(9). p.821-834

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Unravelling the proxisome of photoreceptor-specific nuclear receptor NR2E3 reveals a potential molecular link between transcriptional regulation and splicing in human retina

Edith De Bruycker (UGent) , Olivier Zwaenepoel (UGent) , Manon Bouckaert (UGent) , Georgios Moschonas (UGent) , Delphine De Sutter (UGent) , Louis Delhaye (UGent) , Frauke Coppieters (UGent) , Sven Eyckerman (UGent) , Jan Gettemans (UGent) and Elfride De Baere (UGent)

(2025) BeSHG 25th Anniversary Conference 'Under pressure, the shaping of our genomes', Abstracts. p.22-23

Academic Bibliography

prof. dr. Frauke Coppieters

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

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR variant in the RDH12 gene

Design and evaluation of universal control antisense oligonucleotides across cellular models

TurboID proximity interactome mapping reveals NR2E3 association with AP-1 and retinal developmental complexes

BioID reveals that NR2E3 mediates transcriptional repression through the AP-1 complex

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

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

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

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

Unravelling the proxisome of photoreceptor-specific nuclear receptor NR2E3 reveals a potential molecular link between transcriptional regulation and splicing in human retina

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