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European Training Network to Diagnose, Understand and Treat Stargardt Disease, a Frequent Inherited Blinding Disorder

Deliverables

Publications

Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches

Author(s): Pietro De Angeli, Peggy Reuter, Stefan Hauser, Ludger Schöls, Katarina Sting, Bernd Wissinger, Susanne Kohl
Published in: Molecular Therapy. Nucleic acids, Volume 29, 2022, Page(s) 511-524, ISSN 2162-2531
Publisher: Nature Publishing Group
DOI: 10.1016/j.omtn.2022.07.023

AAV-mediated gene therapy improving mitochondrial function provides benefit in age-related macular degeneration models

Author(s): Sophia Millington-Ward, Naomi Chadderton, Laura K Finnegan, Iris J M Post, Matthew Carrigan, Tom Gardiner, Elisa Peixoto, Daniel Maloney, Marian M Humphries, Alan Stitt, Thierry Léveillard, Pete Humphries, Paul F Kenna, Arpad Palfi, G Jane Farrar
Published in: Clinical and Translational Medicine, 12:e952, 2022, Page(s) 1-7, ISSN 2001-1326
Publisher: Wiley
DOI: 10.1002/ctm2.952

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

Author(s): Mubeen Khan, Gavin Arno, Ana Fakin, David A. Parfitt, Patty P.A. Dhooge, Silvia Albert, Nathalie M. Bax, Lonneke Duijkers, Michael Niblock, Kwan L. Hau, Edward Bloch, Elena R. Schiff, Davide Piccolo, Michael C. Hogden, Carel B. Hoyng, Andrew R. Webster, Frans P.M. Cremers, Michael E. Cheetham, Alejandro Garanto, Rob W.J. Collin
Published in: Molecular Therapy - Nucleic Acids, 21, 2020, Page(s) 412-427, ISSN 2162-2531
Publisher: Nature Publishing Group
DOI: 10.1016/j.omtn.2020.06.007

AAV-PHP.eB transduces both the inner and outer retina with high efficacy in mice

Author(s): Arpad Palfi, Naomi Chadderton, Sophia Millington-Ward, Iris Post, Pete Humphries, Paul F. Kenna, G. Jane Farrar
Published in: Molecular Therapy. Methods & Clinical Development, Volume 25, 2022, Page(s) 236-249, ISSN 2329-0501
Publisher: Cell Press
DOI: 10.1016/j.omtm.2022.03.016

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

Author(s): Zelia Corradi; Manar Salameh; Mubeen Khan; Elise Héon; Ketan Mishra; Rebekkah J. Hitti-Malin; Yahya AlSwaiti; Alice Aslanian; Eyal Banin; Brian P. Brooks; Wadih M. Zein; Robert B. Hufnagel; Susanne Roosing; Claire‐Marie Dhaenens; Dror Sharon; Frans P. M. Cremers; Alaa AlTalbishi
Published in: Investigative ophthalmology and visual science, vol.63, 20, 2022, ISSN 0146-0404
Publisher: Association for Research in Vision and Ophthalmology
DOI: 10.1167/iovs.63.4.20

Retinal organoids provide unique insights into molecular signatures of inherited retinal disease throughout retinogenesis

Author(s): Avril Watson; Majlinda Lako
Published in: Journal of Anatomy, 2022 Sep 29, 2022, Page(s) 1-18, ISSN 0021-8782
Publisher: Blackwell Publishing Inc.
DOI: 10.1111/joa.13768

Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4

Author(s): Tomasz Z. Tomkiewicz,Nuria Suárez-Herrera,Frans P. M. Cremers, Rob W. J. Collin and Alejandro Garanto
Published in: International Journal of Molecular Sciences, 22(9):4621, 2021, Page(s) 1-17, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms22094621

Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity

Author(s): Stéphanie S. Cornelis, Esmee H. Runhart, Miriam Bauwens, Zelia Corradi, Elfride De Baere, Susanne Roosing, Lonneke Haer-Wigman, Claire-Marie Dhaenens, Anneke T. Vulto-van Silfhout, Frans P.M. Cremers
Published in: American Journal of Human Genetics, Volume 109, issue 3, 2022, Page(s) 498-507, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2022.01.008

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

Author(s): Sabrina Mechaussier, Basamat Almoallem, Christina Zeitz, Kristof Van Schil, Laila Jeddawi, Jo Van Dorpe, Alfredo Dueñas Rey, Christel Condroyer, Olivier Pelle, Michel Polak, Nathalie Boddaert, Nadia Bahi-Buisson, Mara Cavallin, Jean-Louis Bacquet, Alexandra Mouallem-Bézière, Olivia Zambrowski, José Alain Sahel, Isabelle Audo, Josseline Kaplan, Jean-Michel Rozet, Elfride De Baere, Isabelle Perr
Published in: The American Journal of Human Genetics, 106/6, 2020, Page(s) 859-871, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2020.04.018

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Author(s): Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo-Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere, Sandro Banfi, Eyal Banin, Miriam Bauwens, Tamar Ben-Yosef, Camiel J. F. Boon, L. Ingeborgh van den Born, Sabine Defoort, Aurore Devos, Adrian Dockery, Lubica Dudakova, Ana Fakin, G. Jane Farrar, Juliana Maria Ferraz Sallum, Kaoru
Published in: Genetics in Medicine, 2020, ISSN 1098-3600
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-020-0787-4

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

Author(s): Giulia Ascari, Nanna D Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Mattias Van Heetvelde, Gavin Arno, Julie Jacob, David Creytens, Jo Van Dorpe, Thalia Van Laethem, Toon Rosseel, Tim De Pooter, Peter De Rijk, Wouter De Coster, Björn Menten, Alfredo Dueñas Rey, Mojca Strazisar, Mette Bertelsen, Lisbeth Tranebjaerg, Elfride De Baere
Published in: Front Cell Dev Biol, Volume 9, 2021, Page(s) 664317, ISSN 2296-634X
Publisher: Frontiers Media
DOI: 10.3389/fcell.2021.664317

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Author(s): Stijn Van de Sompele, Kent W Small, Munevver Burcu Cicekdal, Víctor López Soriano, Eva D'haene, Fadi S Shaya, Steven Agemy, Thijs Van der Snickt, Alfredo Dueñas Rey, Toon Rosseel, Mattias Van Heetvelde, Sarah Vergult, Irina Balikova, Arthur A Bergen, Camiel J F Boon, Julie De Zaeytijd, Chris F Inglehearn, Bohdan Kousal, Bart P Leroy, Carlo Rivolta, Veronika Vaclavik, Jenneke van den Ende, Mary
Published in: American Journal of Human Genetics, Volume 109, issue 11, 2022, Page(s) 2029-2048, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2022.09.013

Development and Use of Cellular Systems to Assess and Correct Splicing Defects

Author(s): Nuria Suárez-Herrera, Tomasz Z Tomkiewicz, Alejandro Garanto, Rob W J Collin
Published in: Methods in Molecular Biology, MIMB, volume 2434, 2022, Page(s) 145-165, ISBN 978-1-0716-2010-6
Publisher: Humana Press
DOI: 10.1007/978-1-0716-2010-6_9