Frauke Coppieters

PhD Thesis

Uncovering the role of non-coding regulatory variation in inherited retinal disease

Alfredo Dueñas Rey (UGent)

(2024)

Journal Article
A1
open access

Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

Victor Lopez Soriano (UGent) , Alfredo Dueñas Rey (UGent) , Rajarshi Mukherjee, Frauke Coppieters (UGent) , Miriam Bauwens (UGent) , Andy Willaert (UGent) and Elfride De Baere (UGent)

(2024) NATURE COMMUNICATIONS. 15(1).

Journal Article
A1
open access

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

Alfredo Dueñas Rey (UGent) , Marta del Pozo Valero (UGent) , Manon Bouckaert (UGent) , Katherine A. Wood, Filip Van Den Broeck (UGent) , Malena Daich Varela, Huw B. Thomas, Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , et al.

(2024) GENOME MEDICINE. 16(1).

Journal Article

Identification and characterization of a novel retinaspecific lncRNA upstream ABCA4 with a potential role in ABCA4-associated inherited retinal disease

Alfredo Duenas Rey, Victor Lopez Soriano, Zelia Corradi, Claire-Marie Dhaenens, Manon Bouckaert, Jasper Verwilt, Avril Watson, Majlinda Lako, Eva D'haene, Karla Alejandra Ruiz Ceja, et al.

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. 31. p.78-79

Single domain antibodies to study orphan receptors and tackle their mutant counterpart with dominant-negative effect

Edith De Bruycker (UGent) , Olivier Zwaenepoel (UGent) , Frauke Coppieters (UGent) , Elfride De Baere (UGent) and Jan Gettemans (UGent)

(2023) Nuclear Receptor Research Network, 15th Meeting, Abstracts.

Journal Article

An integrated approach using multi-omics data to dissect cis-regulatory role of ultraconserved non-coding elements (UCNEs) in human retina

Victor Lopez Soriano, Alfredo Duenas Rey, Stijn Van de Sompele, Frauke Coppieters, Andrew Webster, Miriam Bauwens and Elfride De Baere (UGent)

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. 31. p.5-5

Journal Article

Unraveling the genetic basis of early-onset inherited retinal disease in a Saudi Arabian cohort reveals a novel RIMS2-related family

Basamat Almoallem, Marta del Pozo-Valero, Laila Jeddawi, Kristof Van Schil, Toon Rosseel, Sarah De Jaegere, Bart Leroy, Khalid Emara, Frauke Coppieters, Miriam Bauwens, et al.

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. 31. p.114-114

A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease

Alfredo Dueñas Rey (UGent) , Manon Bouckaert (UGent) , Marta del Pozo Valero (UGent) , Marieke De Bruyne (UGent) , Mattias Van Heetvelde (UGent) , Jamie Ellingford, Gavin Arno, Andrew Webster, Carmen Ayuso, Carlo Rivolta, et al.

(2023) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. In Investigative Ophthalmology & Visual Science 64(8).

Journal Article

Dual molecular effects of constitutional SF3B2 variants cause a novel dominant spliceosomopathy displaying retinitis pigmentosa or developmental skeletal anomalies

Stijn Van de Sompele (UGent) , Caroline Van Cauwenbergh, Marjolein Carron, Alfredo Duenas Rey, Frauke Coppieters, Toon Rosseel, Hong Tran, Robrecht Cannoodt, Thalia Van Laethem, Brecht Guillemyn, et al.

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. 31. p.71-71

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

Olga Krysko (UGent) , Darya Korsakova, Andrea Renate Teufelberger, Amse De Meyer (UGent) , Jill Steels (UGent) , Natalie De Ruyck (UGent) , Judith van Ovost (UGent) , Sharon Van Nevel (UGent) , Gabriële Holtappels (UGent) , Frauke Coppieters (UGent) , et al.

(2023) FRONTIERS IN IMMUNOLOGY. 14.

Academic Bibliography