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Journal Articles (3)
Meeting Abstract (2)

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Investigative Ophthalmology & Visual Science (5)

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ARVO Annual Meeting Abstract (2)
Genetics (1)
Letters to the Editor (1)
Retina (1)

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Genetics (3)
Eye Anatomy and Disorders (2)
Retina (2)

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alleles (3)
penetrance, genetic (3)
stargardt's disease (3)
age of onset (2)
cohort studies (1)
introns (1)
photoreceptors (1)
proband (1)
stem cells (1)

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ARVO Annual Meeting Abstract June 2020

Intronic variants in ABCA4 significantly contribute to the pathogenesis of Stargardt disease and cone-rod dystrophy in Ireland.

Laura Whelan; Adrian Dockery; Mubeen Khan; Stéphanie Cornelis; Niamh Wynne; James O'Byrne; Julia Zhu; Jacqueline Turner; Kirk Stephenson; Giuliana Silvestri; David J Keegan; Paul Kenna; Susanne Roosing; Claire Marie Dhaenens; G. Jane Farrar; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):837. doi:

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

Letters to the Editor November 2018

Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease

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Frans P. M. Cremers; Stéphanie S. Cornelis; Esmee H. Runhart; Galuh D. N. Astuti
TAGS: alleles, penetrance, genetic, stargardt's disease
Invest. Ophthalmol. Vis. Sci.. 2018; 59(13):5566-5568. doi: https://doi.org/10.1167/iovs.18-25944

Includes: Supplemental Content

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 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:

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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