Search | IOVS | ARVO Journals

Showing 1 – 13 of 13

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

ARVO Annual Meeting Abstract June 2024

Enhancing Variant Curation Guidelines to Optimize Clinical Genetic Testing for ABCA4 Retinopathies Utilizing the ClinGen Framework

Kristy Lee; Amber Waddell; C. Blair Compton; Stéphanie S. Cornelis; Amy Dameron; Marieke De Bruyne; Miriam Bauwens; Mathieu Quinodoz; Eva Lenassi; Robyn Jamieson; Claire-Marie Dhaenhens; Andrea L Vincent; Abby T Fahim; Frans Cremers; Elfride De Baere; Robert Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):452.

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 2021

Identification and functional analysis of novel deep intronic and structural ABCA4 variants in 876 Stargardt disease cases

Zelia Corradi; Mubeen Khan; Ketan Mishra; Laura Whelan; Rebekkah Hitti-Malin; Stephanie Cornelis; Claire-Marie Dhaenens; G. Jane Farrar; Dror Sharon; Frans P.M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1567.

ARVO Annual Meeting Abstract June 2021

Sequencing of ABCA4 in a large international Stargardt disease cohort reveals novel pathogenic deep intronic variation and a variant enriched in Ireland.

Laura Whelan; Adrian Dockery; Mubeen Khan; Zelia Corradi; Kirk A.J. Stephenson; Julia Zhu; Stephanie Cornelis; Jacqueline Turner; James J O'Byrne; Giuliana Silvestri; David J Keegan; Paul F Kenna; Susanne Roosing; Claire-Marie Dhaenens; Frans P.M. Cremers; G. Jane Farrar

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2.

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.

Retina October 2019

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

PDF

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. https://doi.org/10.1167/iovs.19-27524

Includes: Supplemental Content

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.

ARVO Annual Meeting Abstract July 2019

Towards comprehensive identification and functional characterization of deep-intronic ABCA4 variants in 1000 Stargardt disease cases

Mubeen Khan; Stephanie Cornelis; Marta del Pozo Valero; Muhammad Imran Khan; Heidi Stohr; Felix Grassmann; Marloes Steehouwer; Alexander Hoischen; Carmen Ayuso; Raj Ramesar; Isabelle Anne Meunier; Sabine defoort; Bernhard HF Weber; Claire-Marie Dhaenens; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2813.

Letters to the Editor November 2018

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

PDF

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. https://doi.org/10.1167/iovs.18-25944

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.

Genetics July 2018

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

PDF

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. https://doi.org/10.1167/iovs.18-23881

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

In silico functional meta-analysis of 5,962 ABCA4 variants in 3,928 Stargardt disease and cone-rod dystrophy cases

Frans P Cremers; Stephanie Cornelis; Nathalie Bax; Jana Zernant; Rando Allikmets; Andreas Fritsche; Johan den Dunnen; Muhammad Ajmal; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1241.

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.

NARROW

Content Type

Journal

Article Type

Topics

Tags

Specify Date Range

Enhancing Variant Curation Guidelines to Optimize Clinical Genetic Testing for ABCA4 Retinopathies Utilizing the ClinGen Framework

Personalized recurrence risks in Stargardt disease based on ABCA4 variant severity

Identification and functional analysis of novel deep intronic and structural ABCA4 variants in 876 Stargardt disease cases

Sequencing of ABCA4 in a large international Stargardt disease cohort reveals novel pathogenic deep intronic variation and a variant enriched in Ireland.

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

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

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

Towards comprehensive identification and functional characterization of deep-intronic ABCA4 variants in 1000 Stargardt disease cases

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

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

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

In silico functional meta-analysis of 5,962 ABCA4 variants in 3,928 Stargardt disease and cone-rod dystrophy cases

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

To View More...

You must be signed into an individual account to use this feature.