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Articles August 2019

Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations

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Mays Talib; Mary J. van Schooneveld; Roos J. G. van Duuren; Caroline Van Cauwenbergh; Jacoline B. ten Brink; Elfride De Baere; Ralph J. Florijn; Nicoline E. Schalij-Delfos; Bart P. Leroy; Arthur A. Bergen; Camiel J. F. Boon
TAGS: follow-up, genetics, mutation, phenotype, retinal degeneration, respiratory distress syndrome, newborn, eye, visual impairment
Trans. Vis. Sci. Tech.. 2019; 8(4):24. doi: https://doi.org/10.1167/tvst.8.4.24

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Biallelic loss-of-function alleles of the SCLT1 gene cause a variable phenotypic spectrum of retinal ciliopathies

Kristof Van Schil; Rachel L. Taylor; Giulia Ascari; Brecht Guillemyn; Laurens Lambrechts; Fanny Depasse; Bart P Leroy; Graeme Black; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2810. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Prevalence and phenotypes/genotypes of CRB1 retinal dystrophies

Beatrice BOCQUET; Claire-Marie Dhaenens; Isabelle Perrault; Jean-Michel Rozet; Josseline Kaplan; Anne Francoise Roux; Dalil Hamroun; Gabriel Gardes; Gael Manes; Elfride De Baere; Bart P Leroy; Vasiliki Kalatzis; Isabelle Anne Meunier

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2948. doi: https://doi.org/

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. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

New insights into the phenotypic spectrum of PROM1 -associated retinopathy

Marta del Pozo Valero; Inmaculada Martin Merida; Belen Jimenez Rolando; Ana Arteche; Almudena Avila Fernandez; Fiona Blanco Kelly; Rosa Riveiro Alvarez; Caroline Van Cauwenbergh; Elfride De Baere; Carlo Rivolta; Blanca Garcia Sandoval; Marta Corton; Carmen Ayuso

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4926. doi: https://doi.org/

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. doi: https://doi.org/

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. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

ABCA4 -associated disease as a model for missing heritability in autosomal recessive disorders: novel non-coding splice, cis -regulatory, structural and recurrent hypomorphic variants

Miriam Bauwens; Alex Garanto; Riccardo Sangermano; Sarah Naessens; Nicole Weisschuh; Julie De Zaeytijd; Mubeen Khan; Françoise Sadler; Susanne Kohl; Bernd Wissinger; timothy cherry; Rob W J Collin; Frans P Cremers; Bart P Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):377. doi: https://doi.org/

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. doi: https://doi.org/

Retina August 2018

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene

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Mays Talib; Mary J. van Schooneveld; Caroline Van Cauwenbergh; Jan Wijnholds; Jacoline B. ten Brink; Ralph J. Florijn; Nicoline E. Schalij-Delfos; Gislin Dagnelie; Maria M. van Genderen; Elfride De Baere; Magda A. Meester-Smoor; Julie De Zaeytijd; Frans P. M. Cremers; L. Ingeborgh van den Born; Alberta A. Thiadens; Carel B. Hoyng; Caroline C. Klaver; Bart P. Leroy; Arthur A. Bergen; Camiel J. F. Boon
TAGS: genes, heterozygote, phenotype, signs and symptoms
Invest. Ophthalmol. Vis. Sci.. 2018; 59(10):4123-4133. doi: https://doi.org/10.1167/iovs.17-23453

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Antisense oligonucleotide-based restoration of ABCA4 splicing defects caused by deep-intronic mutations associated with Stargardt disease

Alex Garanto; Riccardo Sangermano; Silvia Albert; Mubeen Khan; Miriam Bauwens; Sarah Naessens; Rando Allikmets; Ingeborgh Born; Carel C B Hoyng; Elfride De Baere; Frans P Cremers; Rob W J Collin

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4532. doi: https://doi.org/

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. doi: https://doi.org/

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. doi: https://doi.org/

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. doi: https://doi.org/

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. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2018

Copy number variations in CNGB3 -linked autosomal recessive achromatopsia

Susanne Kohl; Anja K. Mayer; caroline Van Cauwenbergh; Christine Rother; Britta Baumann; Peggy Reuter; Elfride De Baere; Bernd Wissinger

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):6044. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2017

Hidden genetic variation in Stargardt disease: novel copy number variations, cis -regulatory and deep-intronic splice variants within the ABCA4 locus

Miriam Bauwens; Riccardo Sangermano; Timothy Cherry; Van Cauwenbergh Caroline; José Luis Gómez-Skarmeta; Nicole Weisschuh; Susanne Kohl; Bart Peter Leroy; Frans P Cremers; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):580. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2017

Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene.

Basamat Almoallem; Kristof Van Schil; Laila Jeddawi; Bart Peter Leroy; Frauke Coppieters; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1242. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2017

Sequence analysis of 108 genes associated with non-syndromic inherited retinal diseases in 3,200 probands using molecular inversion probes

Muhammad Khan; Perez-Carro Raquel; Dror Sharon; Robert K Koenekoop; Carlo Rivolta; Elfride De Baere; Chris F Inglehearn; Susanne Kohl; Christian P Hamel; Tamar Ben-Yosef; Berta De la Cerda; Daniel F Schorderet; Sandro Banfi; Carmen Ayuso; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2758. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2017

Identification, RNA splice defect assessment and AON correction of non-coding variants of ABCA4 in Stargardt disease

Silvia Albert; Riccardo Sangermano; Alejandro Garanto; Miriam Bauwens; Ana Fakin; Ingeborgh Van Den Born; Andrew R Webster; Elfride De Baere; Heidi Stoehr; Bernhard HF Weber; Carel C B Hoyng; Rob W J Collin; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):5580. doi: https://doi.org/

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Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations

Biallelic loss-of-function alleles of the SCLT1 gene cause a variable phenotypic spectrum of retinal ciliopathies

Prevalence and phenotypes/genotypes of CRB1 retinal dystrophies

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

New insights into the phenotypic spectrum of PROM1 -associated retinopathy

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.

ABCA4 -associated disease as a model for missing heritability in autosomal recessive disorders: novel non-coding splice, cis -regulatory, structural and recurrent hypomorphic variants

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

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene

Antisense oligonucleotide-based restoration of ABCA4 splicing defects caused by deep-intronic mutations associated with Stargardt 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

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

Copy number variations in CNGB3 -linked autosomal recessive achromatopsia

Hidden genetic variation in Stargardt disease: novel copy number variations, cis -regulatory and deep-intronic splice variants within the ABCA4 locus

Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene.

Sequence analysis of 108 genes associated with non-syndromic inherited retinal diseases in 3,200 probands using molecular inversion probes

Identification, RNA splice defect assessment and AON correction of non-coding variants of ABCA4 in Stargardt disease

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