Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype–Phenotype Correlations, and Inheritance Models

by Frans P. M. Cremers, Camiel J. F. Boon, Kinga Bujakowska, Christina Zeitz
Published 2018-04-01

The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss

by Suzanne E. de Bruijn, Zeinab Fadaie, Frans P. M. Cremers, Hannie Kremer, Susanne Roosing
Published 2021-03-01

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

by Tomasz Z. Tomkiewicz, Nuria Suárez-Herrera, Frans P. M. Cremers, Rob W. J. Collin, Alejandro Garanto
Published 2021-04-01

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

by Nicole Weisschuh, Britta Feldhaus, Muhammad Imran Khan, Frans P M Cremers, Susanne Kohl, Bernd Wissinger, Ditta Zobor
Published 2018-01-01

Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families

by Naeimeh Tayebi, Oyediran Akinrinade, Muhammad Imran Khan, Arash Hejazifar, Alireza Dehghani, Frans P.M. Cremers, Mohammadreza Akhlaghi
Published 2019-02-01

Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.

by Alejandro Garanto, Sylvia E C van Beersum, Theo A Peters, Ronald Roepman, Frans P M Cremers, Rob W J Collin
Published 2013-01-01

The Molecular Basis of Retinal Dystrophies in Pakistan

by Muhammad Imran Khan, Maleeha Azam, Muhammad Ajmal, Rob W. J. Collin, Anneke I. den Hollander, Frans P. M. Cremers, Raheel Qamar
Published 2014-03-01

Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype.

by Qin Liu, Rob W J Collin, Frans P M Cremers, Anneke I den Hollander, L Ingeborgh van den Born, Eric A Pierce
Published 2012-01-01

The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy

by Sanne K. Verbakel, Zeinab Fadaie, B. Jeroen Klevering, Maria M. van Genderen, Ilse Feenstra, Frans P. M. Cremers, Carel B. Hoyng, Susanne Roosing
Published 2019-06-01

In or Out? New Insights on Exon Recognition through Splice-Site Interdependency

by Mubeen Khan, Stéphanie S. Cornelis, Riccardo Sangermano, Iris J.M. Post, Amber Janssen Groesbeek, Jan Amsu, Christian Gilissen, Alejandro Garanto, Rob W.J. Collin, Frans P.M. Cremers
Published 2020-03-01

Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome

by Karin W. Littink, Patricia T. Y. Stappers, Frans C. C. Riemslag, Herman E. Talsma, Maria M. van Genderen, Frans P. M. Cremers, Rob W. J. Collin, L. Ingeborgh van den Born
Published 2018-01-01

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290

by Susanne Roosing, Frans P. M. Cremers, Frans C. C. Riemslag, Marijke N. Zonneveld-Vrieling, Herman E. Talsma, Francoise J. M. Klessens-Godfroy, Anneke I. den Hollander, L. Ingeborgh van den Born
Published 2017-08-01

Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68

by Karin W. Littink, Patricia T.Y. Stappers, Frans C.C. Riemslag, Herman E. Talsma, Maria M. van Genderen, Frans P.M. Cremers, Rob W.J. Collin, L. Ingeborgh van den Born
Published 2018-03-01

Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis Pigmentosa

by Laura Kuehlewein, Ditta Zobor, Katarina Stingl, Melanie Kempf, Fadi Nasser, Antje Bernd, Saskia Biskup, Frans P.M. Cremers, Muhammad Imran Khan, Pascale Mazzola, Karin Schäferhoff, Tilman Heinrich, Tobias B. Haack, Bernd Wissinger, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl
Published 2021-02-01

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

by Anna Tracewska-Siemiątkowska, Lonneke Haer-Wigman, Danielle G. M. Bosch, Deborah Nickerson, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, Maartje van de Vorst, Nanna Dahl Rendtorff, Claes Möller, Ulrika Kjellström, Sten Andréasson, Frans P. M. Cremers, Lisbeth Tranebjærg
Published 2017-12-01

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

by Zeinab Fadaie, Kornelia Neveling, Tuomo Mantere, Ronny Derks, Lonneke Haer-Wigman, Amber den Ouden, Michael Kwint, Luke O’Gorman, Dyon Valkenburg, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Marcel Nelen, Frans P.M. Cremers, Alexander Hoischen, Susanne Roosing
Published 2021-10-01

Genetic Spectrum of <i>ABCA4</i>-Associated Retinal Degeneration in Poland

by Anna M. Tracewska, Beata Kocyła-Karczmarewicz, Agnieszka Rafalska, Joanna Murawska, Joanna Jakubaszko-Jablonska, Małgorzata Rydzanicz, Piotr Stawiński, Elżbieta Ciara, Muhammad Imran Khan, Arjen Henkes, Alexander Hoischen, Christian Gilissen, Maartje van de Vorst, Frans P. M. Cremers, Rafał Płoski, Krystyna H. Chrzanowska
Published 2019-11-01

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

by Graeme C. Black, Panagiotis Sergouniotis, Andrea Sodi, Bart P. Leroy, Caroline Van Cauwenbergh, Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, Gita Taurina, Marius Sukys, Lonneke Haer-Wigman, Katarzyna Nowomiejska, João Pedro Marques, Dorothée Leroux, Frans P. M. Cremers, Elfride De Baere, Hélène Dollfus, ERN-EYE study group
Published 2021-03-01

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

by Galuh D. N. Astuti, L. Ingeborgh van den Born, M. Imran Khan, Christian P. Hamel, Béatrice Bocquet, Gaël Manes, Mathieu Quinodoz, Manir Ali, Carmel Toomes, Martin McKibbin, Mohammed E. El-Asrag, Lonneke Haer-Wigman, Chris F. Inglehearn, Graeme C. M. Black, Carel B. Hoyng, Frans P. M. Cremers, Susanne Roosing
Published 2018-01-01

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

by 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 2020-09-01