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ARVO Annual Meeting Abstract June 2024

Whole genome sequencing revealed causative deep-intronic PCDH15 and de novo USH2A variants in patients with Usher syndrome

Kim Rodenburg; L. Ingeborgh van den Born; Lonneke Haer-Wigman; Janine Reurink; Christian Gilissen; Frans PM Cremers; Tamar Ben-Yosef; Helger Yntema; Erik Vrieze; Ulrich Zechner; David Rosenkranz; Hannie Kremer; Erwin Wijk; Hanno J. Bolz; Suzanne E. de Bruijn; Susanne Roosing

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4678.

Retina September 2023

ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage

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Jana Sajovic; Andrej Meglič; Zelia Corradi; Mubeen Khan; Aleš Maver; Martina Jarc Vidmar; Marko Hawlina; Frans P. M. Cremers; Ana Fakin
TAGS: abca4 gene, alleles, photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2023; 64(12):33. https://doi.org/10.1167/iovs.64.12.33

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

Multi-omics approaches to identify the genetic defect underlying dominant cystoid macular (CYMD)

Suzanne de Bruijn; Michele Pinelli; Ivan Conte; Kasper Derks; Tabea V. Riepe; Silvia Albert; Frans P Cremers; Carel C B Hoyng; Susanne Roosing

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4541.

ARVO Annual Meeting Abstract June 2023

Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing

Melita Kaltak; Zelia Corradi; Rob W J Collin; Jim Swildens; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4530.

ARVO Annual Meeting Abstract June 2023

Targeted sequencing using single-molecule Molecular Inversion Probes reveals severe bi-allelic ABCA4 alleles in probands diagnosed with Leber congenital amaurosis

Daan Panneman; Susanne Roosing; Erica G.M Boonen; Chris Inglehearn; Martin McKibbin; Elfride De Baere; Thomy de Ravel; Sascha Vermeer; Andrea L Vincent; Robert K Koenekoop; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4518.

ARVO Annual Meeting Abstract June 2023

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with cone-rod dystrophy and macular dystrophy

Maria Rodriguez-Hidalgo; Suzanne de Bruijn; Zelia Corradi; Kim Rodenburg; Araceli Lara-López; Almudena Avila-Fernández; Lidia Fernandez-Caballero; Carmen Ayuso; Cristina Irigoyen; Frans P Cremers; Javier Ruiz-Ederra; Susanne Roosing

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4509.

ARVO Annual Meeting Abstract June 2023

Comprehensive study on late-onset Stargardt: disease characteristics, genetics and progression

Catherina Li; Jeroen A.A.H. Pas; Anne Hoogstede; Zelia Corradi; Rebekkah Hitti-Malin; Esmee H. Runhart; Patty P.A. Dhooge; Frans P Cremers; Rob W J Collin; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3701.

ARVO Annual Meeting Abstract June 2023

Large scale smMIPs-based sequencing of 908 probands to provide a genetic diagnosis for patients with inherited macular diseases.

Rebekkah Hitti-Malin; Claire-Marie Dhaenens; Daan Panneman; Zelia Corradi; Anneke I. den Hollander; G Jane Farrar; Erica G.M Boonen; Christian Gilissen; Alexander Hoischen; Susanne Roosing; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3658.

ARVO Annual Meeting Abstract June 2023

Stargardt disease-associated in-frame exon 17 skipping in ABCA4 results in partial ABCA4 function

Laurie Molday; Melita Kaltak; Rocio Blanco-Garavito; Claire-Marie Dhaenens; Eric Souied; Gerard Platenburg; Jim Swildens; Robert S Molday; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4499.

ARVO Annual Meeting Abstract June 2022

Antisense oligonucleotide-based correction of the splicing defect caused by the c.769-784C>T variant in ABCA4.

Tomasz Zbigniew Tomkiewicz; Sara Nieuwenhuis; Frans P Cremers; Alejandro Garanto; Rob WJ Collin

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):71 – A0044.

ARVO Annual Meeting Abstract June 2022

Revisiting WGS data reveals previously overlooked structural variants disrupting IRD-associated genes

Suzanne de Bruijn; Kornelia Neveling; Rebekkah J Hitti-Malin; Jordi Corominas; Janine Reurink; Hannie Kremer; Ronald J.E. Pennings; Marcel Nelen; Christian Gilissen; Frans P Cremers; Alexander Hoischen; Susanne Roosing

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):5.

ARVO Annual Meeting Abstract June 2022

Scrutinizing pathogenicity of the USH2A c.2276G>T; p.(Cys759Phe) variant

Janine Reurink; Erik de Vrieze; Catherina H.Z. Li; Sanne Broekman; Theo Peters; Kornelia Neveling; Hanka Venselaar; Christian Gilissen; Janneke J.C. van Lith-Verhoeven; Lonneke Haer-Wigman; Carel C B Hoyng; Frans P Cremers; Hannie Kremer; Susanne Roosing; Erwin van Wyk

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):491 – A0068.

ARVO Annual Meeting Abstract June 2022

Single-molecule Molecular Inversion Probes allow cost-effective targeted sequencing of all genes and loci associated with macular diseases.

Rebekkah J Hitti-Malin; Susanne Roosing; Claire-Marie Dhaenens; Anneke I Den Hollander; G.Jane Farrar; Daan Panneman; Erica G.M Boonen; Laura de Rooij; Mariana Guimaraes Ramos; Maartje van de Vorst; Bart de Koning; Christian Gilissen; Alexander Hoischen; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):41.

ARVO Annual Meeting Abstract June 2022

Cost-effective identification of causal variants in 113 genes underlying retinitis pigmentosa and Leber congenital amaurosis

Daan Panneman; Rebekkah J Hitti-Malin; Erica G.M Boonen; Lara K. Holtes; Mariana Guimaraes Ramos; Anna Maria Tracewska; Maartje van de Vorst; Bart de Koning; Christian Gilissen; Alexander Hoischen; Frans P Cremers; Susanne Roosing

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):134 – A0314.

ARVO Annual Meeting Abstract June 2022

Identification of a complex allele in IMPG2 as a cause of adult onset vitelliform macular dystrophy

Susanne Roosing; Irene Vázquez-Domínguez; Catherina H.Z. Li; Zeinab Fadaie; Lonneke Haer-Wigman; Frans P Cremers; Carel C B Hoyng; Alejandro Garanto

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1600 – A0389.

ARVO Annual Meeting Abstract June 2022

Modelling monoallelic Stargardt disease with 3D retinal organoids

Avril M Watson; Birthe Dorgau; Valeria Chichagova; Frans P Cremers; Majlinda Lako

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2432 – F0376.

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 2022

Personalized recurrence risks in Stargardt disease based on ABCA4 variant severity

Stéphanie Susanne Cornelis; Esmee Runhart; Miriam Bauwens; Zelia Corradi; Elfride De Baere; Susanne Roosing; Lonneke Haer-Wigman; Claire-Marie Dhaenens; Anneke T. Vulto-van Silfhout; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3766 – F0187.

ARVO Annual Meeting Abstract June 2022

Antisense oligonucleotide-based rescue of complex splicing defects in ABCA4

Zelia Corradi; Laura de Rooij; Rebekkah J Hitti-Malin; Alejandro Garanto; Rob WJ Collin; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3842.

Genetics May 2022

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy

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Irene Vázquez-Domínguez; Catherina H. Z. Li; Zeinab Fadaie; Lonneke Haer-Wigman; Frans P. M. Cremers; Alejandro Garanto; Carel B. Hoyng; Susanne Roosing
TAGS: adult, alleles, persistent postconcussive syndrome, postpolypectomy coagulation syndrome, vitelliform dystrophy, exons, rna splicing, genes
Invest. Ophthalmol. Vis. Sci.. 2022; 63(5):27. https://doi.org/10.1167/iovs.63.5.27

Includes: Supplemental Content

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Whole genome sequencing revealed causative deep-intronic PCDH15 and de novo USH2A variants in patients with Usher syndrome

ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage

Multi-omics approaches to identify the genetic defect underlying dominant cystoid macular (CYMD)

Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing

Targeted sequencing using single-molecule Molecular Inversion Probes reveals severe bi-allelic ABCA4 alleles in probands diagnosed with Leber congenital amaurosis

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with cone-rod dystrophy and macular dystrophy

Comprehensive study on late-onset Stargardt: disease characteristics, genetics and progression

Large scale smMIPs-based sequencing of 908 probands to provide a genetic diagnosis for patients with inherited macular diseases.

Stargardt disease-associated in-frame exon 17 skipping in ABCA4 results in partial ABCA4 function

Antisense oligonucleotide-based correction of the splicing defect caused by the c.769-784C>T variant in ABCA4.

Revisiting WGS data reveals previously overlooked structural variants disrupting IRD-associated genes

Scrutinizing pathogenicity of the USH2A c.2276G>T; p.(Cys759Phe) variant

Single-molecule Molecular Inversion Probes allow cost-effective targeted sequencing of all genes and loci associated with macular diseases.

Cost-effective identification of causal variants in 113 genes underlying retinitis pigmentosa and Leber congenital amaurosis

Identification of a complex allele in IMPG2 as a cause of adult onset vitelliform macular dystrophy

Modelling monoallelic Stargardt disease with 3D retinal organoids

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

Personalized recurrence risks in Stargardt disease based on ABCA4 variant severity

Antisense oligonucleotide-based rescue of complex splicing defects in ABCA4

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy

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