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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 -
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 -
Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry2021 Acta Ophthalmologica article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Esmee H. Runhart, Patty P.A. Dhooge, Magda A. Meester‐Smoor, Jeroen A. A. H. Pas, Jan Willem R. Pott, Redmer van Leeuwen, +11 more
36citations -
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 12020 American Journal of Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Michalis Georgiou, Anthony G. Robson, Kaoru Fujinami, Shaun M. Leo, Ajoy Vincent, Fadi Nasser, +30 more
33citations -
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 22021 American Journal of Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Michalis Georgiou, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Mauricio E. Vargas, +31 more
29citations -
Mitochondrial retinopathies and optic neuropathies: The impact of retinal imaging on modern understanding of pathogenesis, diagnosis, and management2024 Progress in Retinal and Eye Research article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Enrico Borrelli, Francesco Maria Bandello, Camiel J. F. Boon, Valério Carelli, Guy Lenaers, Michele Reibaldi, +5 more
23citations -
The Road towards Gene Therapy for X-Linked Juvenile Retinoschisis: A Systematic Review of Preclinical Gene Therapy in Cell-Based and Rodent Models of XLRS2024 International Journal of Molecular Sciences review Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Isa van der Veen, Andrea Heredero Berzal, Céline Koster, Anneloor L.M.A. ten Asbroek, Arthur A B Bergen, Camiel J. F. Boon
14citations -
A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR)2024 Graefe s Archive for Clinical and Experimental Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Berith M. Balfoort, Filip Van den Broeck, Marion M. M. G. Brands, Clara D. van Karnebeek, Arthur A B Bergen, L. Ingeborgh van den Born, +6 more
10citations -
CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids2023 Stem Cell Reports article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Thilo M. Buck, Peter M. J. Quinn, Lucie P. Pellissier, Aat A. Mulder, Aldo Jongejan, Xuefei Lu, +15 more
10citations -
Vision on gyrate atrophy: why treat the eye?2023 EMBO Molecular Medicine article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Arthur A B Bergen, Mark J. Buijs, Anneloor L.M.A. ten Asbroek, Berith M. Balfoort, Camiel J. F. Boon, Roselie M.H. Diederen, +13 more
8citations -
The Analysis of Embryoid Body Formation and Its Role in Retinal Organoid Development2024 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Andrea Heredero Berzal, Ellie L. Wagstaff, Anneloor L.M.A. ten Asbroek, Jacoline B. ten Brink, Arthur A B Bergen, Camiel J. F. Boon
2citations -
Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?2025 Acta Ophthalmologica article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Berith M. Balfoort, Marion M. M. G. Brands, Anneloor L.M.A. ten Asbroek, Camiel J. F. Boon, Roselie M.H. Diederen, Corrie Timmer, +6 more
2citations -
Randomised Clinical Trial to Evaluate the Efficacy of Acetazolamide for the Treatment of Cystoid Fluid Collections in X‐Linked Retinoschisis: The AXIS Trial2026 Clinical and Experimental Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Jonathan Hensman, Hind Almushattat, Roselie M.H. Diederen, Tien‐En Tan, Peilun Dai, Coen de Vente, +10 more
2citations -
Embryonic nutritional hyperglycemia decreases cell proliferation in the zebrafish retina2022 Histochemistry and Cell Biology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders
Ismael Hernández‐Núñez, María Vivero-Lopez, Ana Quelle‐Regaldie, Willem J. DeGrip, Laura E. Sanchez, Ángel Concheiro, +3 more
2citations -
Expanding the options for therapeutic exon skipping as a future treatment for USH2A -associated disease by 3D structural modeling of newly formed hybrid domains2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders
Lucija Malinar, Sanne Broekman, Daniel T. Rademaker, Anh Q Le, Theo A. Peters, Erik de Vrieze, +3 more
1citations -
Retinal Proteomics of a Mouse Model of Dystroglycanopathies Points to a Role of KIAA1549 in Ocular Changes Observed in Patients2020 SSRN Electronic Journal preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Mary Luz Uribe, José Martín‐Nieto, Cristina Quereda, Marcos Rubio‐Fernández, Jesús Cruces, George M. C. Janssen, +3 more
0citations -
Embryonic nutritional hyperglycemia decreases cell proliferation in the zebrafish retina2022 Research Square preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Ismael Hernández‐Núñez, María Vivero-Lopez, Ana Quelle‐Regaldie, Willem J. DeGrip, Laura E. Sanchez, Ángel Concheiro, +3 more
0citations -
Mesopic microperimetry in Stargardt disease: Application and reliability2026 Acta Ophthalmologica article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Sybren H. Kootstra, Jeroen A. A. H. Pas, Patty P.A. Dhooge, Steffen Schmitz‐Valckenberg, Maurízio Battaglia Parodi, Philipp Herrmann, +6 more
0citations -
A theoretical and experimental model of flow characteristics in subretinal injections2026 PLoS ONE article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Reza Ladha, Benjamin Merveille, Roland Wyns, Benoit Scheid, François Willermain, Marc D. de Smet
0citations -
Loss of ABCA4 from photoreceptor discs triggers changes in glial cell homeostasis2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Rossella Valenzano, Andrew J. McDonald, Carmen Gallego, Charlotte A. Andriessen, Ioannis Moustakas, Aat A. Mulder, +4 more
0citations -
Crossover to acetazolamide for the treatment of cystoid fluid collections in X-linked retinoschisis: the REAXIS study2026 Ophthalmic Genetics article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Jonathan Hensman, Hind Almushattat, Roselie M.H. Diederen, Tien‐En Tan, Peilun Dai, Coen de Vente, +4 more
0citations
25 results