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

Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290

by Lonneke Duijkers, L. Ingeborgh van den Born, John Neidhardt, Nathalie M. Bax, Laurence H. M. Pierrache, B. Jeroen Klevering, Rob W. J. Collin, Alejandro Garanto
Published 2018-03-01

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

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

Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases

by Janine Reurink, Adrian Dockery, Dominika Oziębło, G. Jane Farrar, Monika Ołdak, Jacoline B. ten Brink, Arthur A. Bergen, Tuula Rinne, Helger G. Yntema, Ronald J. E. Pennings, L. Ingeborgh van den Born, Marco Aben, Jaap Oostrik, Hanka Venselaar, Astrid S. Plomp, M. Imran Khan, Erwin van Wijk, Frans P. M. Cremers, Susanne Roosing, Hannie Kremer
Published 2021-06-01

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acylt...

by Hendrik P N Scholl, Anthony T Moore, Robert K Koenekoop, Yuquan Wen, Gerald A Fishman, L Ingeborgh van den Born, Ava Bittner, Kristen Bowles, Emily C Fletcher, Frederick T Collison, Gislin Dagnelie, Simona Degli Eposti, Michel Michaelides, David A Saperstein, Ronald A Schuchard, Claire Barnes, Wadih Zein, Ditta Zobor, David G Birch, Janine D Mendola, Eberhart Zrenner, RET IRD 01 Study Group
Published 2015-01-01