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Retina October 2019

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles

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Esmee H. Runhart; Dyon Valkenburg; Stéphanie S. Cornelis; Mubeen Khan; Riccardo Sangermano; Silvia Albert; Nathalie M. Bax; Galuh D. N. Astuti; Christian Gilissen; Jan-Willem R. Pott; Joke B. G. M. Verheij; Ellen A. W. Blokland; Frans P. M. Cremers; L. Ingeborgh van den Born; Carel B. Hoyng
TAGS: alleles, introns, penetrance, genetic, stargardt's disease, cohort studies, photoreceptors, age of onset, stem cells
Invest. Ophthalmol. Vis. Sci.. 2019; 60(13):4249-4256. doi: https://doi.org/10.1167/iovs.19-27524

Includes: Supplemental Content

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:

ARVO Annual Meeting Abstract July 2019

Mild deep-intronic ABCA4 variants explain genetically unsolved cases of very late-onset Stargardt disease

E.H. Henrike Runhart; Dyon Valkenburg; Stephanie Cornelis; Mubeen Khan; Riccardo Sangermano; Galuh D.N. Astuti; Silvia Albert; nathalie m bax; Jan-Willem R. Pott; Joke B.G.M. Verheij; Ellen A.W. Blokland; Frans P Cremers; L. Ingeborgh van den Born; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1338. doi:

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:

ARVO Annual Meeting Abstract July 2018

ABCA4 midigenes reveal the full splice spectrum of all reported and newly identified non-canonical splice site variants in Stargardt disease

Mubeen Khan; Riccardo Sangermano; Stéphanie Cornelis; Valerie Richelle; Duaa Elmelik; Silvia Albert; Alex Garanto; Raheel Qamar; Dorien Lugtenberg; Ingeborgh Born; Rob W J Collin; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4503. doi:

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:

Genetics July 2018

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

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Esmee H. Runhart; Riccardo Sangermano; Stéphanie S. Cornelis; Joke B. G. M. Verheij; Astrid S. Plomp; Camiel J. F. Boon; Dorien Lugtenberg; Susanne Roosing; Nathalie M. Bax; Ellen A. W. Blokland; Marlie H. M. Jacobs-Camps; Saskia D. van der Velde-Visser; Jan-Willem R. Pott; Klaus Rohrschneider; Alberta A. H. J. Thiadens; Caroline C. W. Klaver; L. Ingeborgh van den Born; Carel B. Hoyng; Frans P. M. Cremers
TAGS: penetrance, genetic, stargardt's disease, proband, alleles, age of onset
Invest. Ophthalmol. Vis. Sci.. 2018; 59(8):3220-3231. doi: https://doi.org/10.1167/iovs.18-23881

Includes: Supplemental Content

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:

ARVO Annual Meeting Abstract June 2017

Size matters: ABCA4 midigenes facilitate accurate RNA splicing analysis of non-canonical splice site variants in Stargardt disease

Riccardo Sangermano; Mubeen Khan; Valerie Richelle; Stephanie Cornelis; Alejandro Garanto; Rob W J Collin; Silvia Albert; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):5581. doi:

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:

ARVO Annual Meeting Abstract September 2016

Identification and validation of intronic ABCA4 mutations in Stargardt patients by using induced pluripotent stem cell-derived photoreceptor progenitor cells

Silvia Albert; Riccardo Sangermano; Nathalie Bax; Miriam Bauwens; Ingeborgh Van Den Born; Elfride De Baere; Alejandro Garanto; Rob Collin; Carel C B Hoyng; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6590. doi:

ARVO Annual Meeting Abstract June 2015

Recurrence of identical combinations of mutations in MFSD8 or POC1B in persons with cone dysfunctions due to founder effects and putative functional constraints

Riccardo Sangermano; Susanne Roosing; L Ingeborgh Van Den Born; Carel C B Hoyng; Frans Cremers; Lonneke Haer-Wigman

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2895. doi:

ARVO Annual Meeting Abstract June 2015

Towards the identification of deep-intronic ABCA4 mutations in Stargardt patients by using induced pluripotent stem cell-derived photoreceptor progenitor cells

Silvia Albert; Riccardo Sangermano; Nathalie Bax; Susanne Roosing; L. I. van den Born; Anke den Engelsman-van Dijk; Angelique Ramlal; Edwin M Stone; Carel C B Hoyng; Frans Cremers

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3174. doi:

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Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles

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

Mild deep-intronic ABCA4 variants explain genetically unsolved cases of very late-onset Stargardt disease

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

ABCA4 midigenes reveal the full splice spectrum of all reported and newly identified non-canonical splice site variants in Stargardt disease

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

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

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

Size matters: ABCA4 midigenes facilitate accurate RNA splicing analysis of non-canonical splice site variants in Stargardt disease

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

Identification and validation of intronic ABCA4 mutations in Stargardt patients by using induced pluripotent stem cell-derived photoreceptor progenitor cells

Recurrence of identical combinations of mutations in MFSD8 or POC1B in persons with cone dysfunctions due to founder effects and putative functional constraints

Towards the identification of deep-intronic ABCA4 mutations in Stargardt patients by using induced pluripotent stem cell-derived photoreceptor progenitor cells

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