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ARVO Annual Meeting Abstract June 2024

Comprehensive tissue specificity analysis identifies (novel) retina-specific, long non-coding RNAs

Emma Delanote; Alfredo Dueñas Rey; Karla Ruiz; Victor López Soriano; Manon Bouckaert; Kelly Lemeire; Jasper Verwilt; Hanne Lenaerts; Sarah De Keulenaer; Filip Van Nieuwerburgh; Eva D'Haene; Elfride De Baere; Pieter Mestdagh; Steve Lefever; Sandro Banfi; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):639.

ARVO Annual Meeting Abstract June 2024

Identification of long non-coding RNAs co-expressed with Inherited Retinal Disease Genes

Karla Alejandra Ruiz Ceja; Emma Delanote; Dalila Capasso; Alfredo Dueñas Rey; Mario Failli; Diego diBernardo; Frauke Coppieters; Sandro Banfi

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4938.

ARVO Annual Meeting Abstract June 2024

Single nucleotide variations and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

Dror Sharon; Tamar Hayman; Shai Ovadia; Jaya Krishnan; Manon Bouckaert; Daan Panneman; Milton English; Susanne Roosing; Frans Cremers; Tamar Ben-Yosef; Eyal Banin; Ruth Ashery-Padan; Frauke Coppieters; Anand Swaroop

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4936.

ARVO Annual Meeting Abstract June 2024

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

Manon Bouckaert; Kyana Van Acker; Maria Georgiou; Filip Van Den Broeck; Edith De Bruycker; Alfredo Dueñas Rey; Emma Delanote; Hanne Lenaerts; Melita Kaltak; Elfride De Baere; Katrien Remaut; Louis Delhaye; Julie De Zaeytijd; Bart Peter Leroy; Majlinda Lako; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5321.

ARVO Annual Meeting Abstract June 2024

Single domain antibodies to tackle autosomal dominant retinitis pigmentosa caused by NR2E3 mutation G56R

Edith De Bruycker; Olivier Zwaenepoel; Frauke Coppieters; Jan Gettemans; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5309.

ARVO Annual Meeting Abstract June 2023

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

Alfredo Dueñas Rey; Manon Bouckaert; Marta Del Pozo Valero; Marieke De Bruyne; Mattias Van Heetvelde; Jamie Ellingford; Gavin Arno; Andrew R Webster; Carmen Ayuso; Carlo Rivolta; Bart Peter Leroy; Miriam Bauwens; Julie De Zaeytijd; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2851.

ARVO Annual Meeting Abstract June 2022

Integrated multi-omics analysis to dissect a cis -regulatory role of ultraconserved non-coding elements (UCNEs) in human developing and adult retina

Víctor López-Soriano; Alfredo Dueñas Rey; Stijn Van de Sompele; Frauke Coppieters; Andrew R Webster; Miriam Bauwens; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2629.

ARVO Annual Meeting Abstract June 2022

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

Alfredo Dueñas Rey; Víctor López-Soriano; Zelia Corradi; Claire-Marie Dhaenens; Manon Bouckaert; Jasper Verwilt; Avril M Watson; Majlinda Lako; Eva D’haene; Karla Alejandra Ruiz Ceja; Sandro Banfi; Miriam Bauwens; Frans P Cremers; Steve Lefever; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2628.

ARVO Annual Meeting Abstract June 2021

Exploring the role of putative cis -regulatory variants within the 5’UTR of the ABCA4 gene in ~6,900 cases with inherited retinal disease

Alfredo Dueñas Rey; Muhammad Imran Khan; Mubeen Khan; Miriam Bauwens; Toon Rosseel; Dror Sharon; Robert K Koenekoop; Gavin Arno; Andrew Webster; Carmel Toomes; Claire-Marie Dhaenens; Frans P.M. Cremers; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1451.

ARVO Annual Meeting Abstract June 2020

Functional characterization of a Xenopus tropicalis knockout and a human cellular model of RCBTB1 -associated inherited retinal disease shows involvement of RCBTB1 in the cellular response to oxidative stress

Marjolein Carron; Thomas Naert; Giulia Ascari; Suzan Demuynck; Tom Van Nieuwenhuyzen; Toon Rosseel; Dario Priem; Anneke Kremer; Hannes Van Landeghem; Sofie Hoogstoel; Frauke Coppieters; Chris Guerin; Kris Vleminckx; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1125.

ARVO Annual Meeting Abstract June 2020

Targeted next-generation sequencing of the highly repetitive and purine-rich ORF15 region of RPGR, a hotspot for missing heritability in X-linked retinitis pigmentosa, a target for gene therapy

Miriam Bauwens; Annelies De Jaegher; Sarah De Jaegere; Steve Lefever; Frauke Coppieters; Bart Peter Leroy; Toon Rosseel; Kim De Leeneer; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2394.

ARVO Annual Meeting Abstract July 2019

Splice modulation therapy for a variety of ABCA4 mutations underlying Stargardt disease

Rob W J Collin; Mubeen Khan; Riccardo Sangermano; Sarah Naessens; Miriam Bauwens; Carel C B Hoyng; Frauke Coppieters; Silvia Albert; Michael E Cheetham; Elfride De Baere; Frans P Cremers; Alex Garanto

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3401.

ARVO Annual Meeting Abstract July 2019

Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells

Sarah Naessens; Rob W J Collin; Frauke Coppieters; Miriam Bauwens; Lonneke Duijkers; Irina Balikova; Bart P Leroy; Elfride De Baere; Alex Garanto

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4950.

ARVO Annual Meeting Abstract July 2019

Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss.

Giulia Ascari; Frank Peelman; Nina Lambrechts; Thalia Van Laethem; Toon Rosseel; Pietro Farinelli; David Creytens; Irina Balikova; Jan Gerris; Claus Bachert; Carlo Rivolta; Sophie Walraedt; Bart P Leroy; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4951.

ARVO Annual Meeting Abstract July 2019

Whole exome sequencing-based copy number variant detection in inherited retinal disease

Frauke Coppieters; Stijn Van de Sompele; Kristof Van Schil; Thalia Van Laethem; Rani Six; Sarah De Jaegere; Francoise Meire; Meindert De Vries; Irina Balikova; Julie De Zaeytijd; Bart P Leroy; Toon Rosseel; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):385.

Retina September 2018

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

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Dyon Valkenburg; Caroline van Cauwenbergh; Birgit Lorenz; Mies M. van Genderen; Mette Bertelsen; Jan-Willem R. Pott; Frauke Coppieters; Julie de Zaeytijd; Alberta A. H. J. Thiadens; Caroline C. W. Klaver; Hester Y. Kroes; Mary J. van Schooneveld; Markus Preising; Carel B. Hoyng; Bart P. Leroy; L. Ingeborgh van den Born; Rob W. J. Collin

Invest. Ophthalmol. Vis. Sci.. 2018; 59(11):4384-4391. https://doi.org/10.1167/iovs.18-24817

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1 -associated retinal disease

Giulia Ascari; Thomas Naert; Tom Van Nieuwenhuysen; Suzan Demuynck; Chris Guerin; Frauke Coppieters; Kris Vleminckx; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):377.

ARVO Annual Meeting Abstract July 2018

Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees.

Sarah Naessens; Delfien Syx; Frank Peelman; Roosmarijn Vandenbroucke; Sarah De Jaegere; Frédéric Smeets; Julie De Zaeytijd; Bart P Leroy; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5403.

ARVO Annual Meeting Abstract July 2018

Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation: rare novel disease genes and a multitude of novel pathogenic variants in known disease genes

Kristof Van Schil; Sarah Naessens; Stijn Van de Sompele; Marjolein Carron; Laurens Lambrechts; Núria Gruartmoner Roura; Katharina Dannhausen; Frauke Coppieters; Marcus Karlstetter; Thomas Langmann; Reza Maroofian; Andrew Webster; Michel Michaelides; Bart P Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5404.

ARVO Annual Meeting Abstract July 2018

Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes

Frauke Coppieters; Stijn Van de Sompele; Kristof Van Schil; caroline Van Cauwenbergh; Toon Rosseel; Sarah De Jaegere; Thalia Van Laethem; Irina Balikova; Bart P Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5408.

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Comprehensive tissue specificity analysis identifies (novel) retina-specific, long non-coding RNAs

Identification of long non-coding RNAs co-expressed with Inherited Retinal Disease Genes

Single nucleotide variations and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

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

Single domain antibodies to tackle autosomal dominant retinitis pigmentosa caused by NR2E3 mutation G56R

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

Integrated multi-omics analysis to dissect a cis -regulatory role of ultraconserved non-coding elements (UCNEs) in human developing and adult retina

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

Exploring the role of putative cis -regulatory variants within the 5’UTR of the ABCA4 gene in ~6,900 cases with inherited retinal disease

Functional characterization of a Xenopus tropicalis knockout and a human cellular model of RCBTB1 -associated inherited retinal disease shows involvement of RCBTB1 in the cellular response to oxidative stress

Targeted next-generation sequencing of the highly repetitive and purine-rich ORF15 region of RPGR, a hotspot for missing heritability in X-linked retinitis pigmentosa, a target for gene therapy

Splice modulation therapy for a variety of ABCA4 mutations underlying Stargardt disease

Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells

Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss.

Whole exome sequencing-based copy number variant detection in inherited retinal disease

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1 -associated retinal disease

Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees.

Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation: rare novel disease genes and a multitude of novel pathogenic variants in known disease genes

Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes

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