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Retinal Development and Disorders Sign in to save
Papers per year
Papers 149
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Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations2021 Molecular Therapy article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Kalyan Dulla, Ralph W. N. Slijkerman, Hester C. van Diepen, Sílvia Albert, Margo Dona, Wouter Beumer, +19 more
148citations -
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, +67 more
143citations -
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial2022 Nature Medicine article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Stephen R. Russell, Arlene V. Drack, Artur V. Cideciyan, Samuel G. Jacobson, Bart Peter Leroy, Caroline Van Cauwenbergh, +24 more
134citations -
Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies2023 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Xuan‐Thanh‐An Nguyen, Lude Moekotte, Astrid S. Plomp, Arthur A B Bergen, Maria M. van Genderen, Camiel J. F. Boon
123citations -
The retinal pigmentation pathway in human albinism: Not so black and white2022 Progress in Retinal and Eye Research article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Reinier Bakker, Ellie L. Wagstaff, Charlotte C. Kruijt, Eszter Emri, Clara D.M. van Karnebeek, Michael B. Hoffmann, +5 more
82citations -
Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report2021 Nature Medicine article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Artur V. Cideciyan, Samuel G. Jacobson, Allen C. Ho, Alexandra V. Garafalo, Alejandro J. Román, Alexander Sumaroka, +3 more
64citations -
LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED2021 Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Bart Peter Leroy, David G. Birch, Jacque L. Duncan, Byron L. Lam, Robert K. Koenekoop, Fernanda Belga Ottoni Porto, +2 more
61citations -
AAV-mediated gene augmentation therapy of CRB1 patient-derived retinal organoids restores the histological and transcriptional retinal phenotype2023 Stem Cell Reports article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Nanda Boon, Xuefei Lu, Charlotte A. Andriessen, Ioannis Moustakas, Thilo M. Buck, Christiaan H. Arendzen, +4 more
46citations -
CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials2021 American Journal of Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Xuan‐Thanh‐An Nguyen, Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Maria M. van Genderen, Nicoline Elisabeth Schalij-Delfos, +12 more
43citations -
Advantages of robotic assistance over a manual approach in simulated subretinal injections and its relevance for gene therapy2021 Gene Therapy article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Reza Ladha, Thijs C. M. Meenink, Jorrit Smit, Marc D. de Smet
43citations -
The Role of Small Molecules and Their Effect on the Molecular Mechanisms of Early Retinal Organoid Development2021 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Ellie L. Wagstaff, Andrea Heredero Berzal, Camiel J. F. Boon, Peter M. J. Quinn, Anneloor L.M.A. ten Asbroek, Arthur A B Bergen
42citations -
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Manon H. C. A Peeters, Mubeen Khan, Anoek A. M. B Rooijakkers, Timo W. F. Mulders, Lonneke Haer‐Wigman, Camiel J. F. Boon, +7 more
42citations -
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C2023 Molecular Therapy — Nucleic Acids article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Melita Kaltak, Davide Piccolo, Sang‐Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, +5 more
41citations -
RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features2020 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Xuan‐Thanh‐An Nguyen, Mays Talib, Mary J. van Schooneveld, Joost Brinks, Jacoline ten Brink, Ralph J. Florijn, +4 more
40citations -
CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA2020 Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Xuan‐Thanh‐An Nguyen, Mays Talib, Caroline Van Cauwenbergh, Mary J. van Schooneveld, Marta F. Fiocco, Jan Wijnholds, +15 more
39citations -
Syndromic retinitis pigmentosa2024 Progress in Retinal and Eye Research article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Jessica S. Karuntu, Hind Almushattat, Xuan‐Thanh‐An Nguyen, Astrid S. Plomp, Ronald J. A. Wanders, Carel B. Hoyng, +8 more
39citations
Most active Aachen authors
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Camiel J. F. Boon 13,468 citations overall68 papers
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Jan Wijnholds 12,369 citations overall20 papers
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Xuan‐Thanh‐An Nguyen 470 citations overall16 papers
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Gerard J. Platenburg 3,472 citations overall13 papers
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Sandra Johnen 930 citations overall12 papers
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Jim Swildens 565 citations overall12 papers
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Melita Kaltak 108 citations overall12 papers
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Mays Talib 703 citations overall9 papers
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Jessica S. Karuntu 125 citations overall8 papers
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Nicoline Elisabeth Schalij-Delfos 2,344 citations overall7 papers
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Aat A. Mulder 4,867 citations overall6 papers
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Nanda Boon 358 citations overall6 papers
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Walid Albanna 1,218 citations overall5 papers
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Xuefei Lu 204 citations overall5 papers