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Retinal microcirculation alterations in rheumatoid arthritis patients compared to healty volunteers and their correlation to the disease activity and duration of disease
Abdelrahman Assaf, Roman Günthner, Matthias C. Braunisch, Quirin Bachmann, Konstantin E. Kotliar, Christoph Schmaderer, +1 more
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Evaluating the quantity and spatial density of macrophage-like cells in patients with retinal vascular disease and healthy subjects via non-invasive retinal imaging2025 International Journal of Retina and Vitreous article Medicine Retinal Diseases and Treatments Open access
Farhad Ghaseminejad, Thomas J. van Rijssen, Parsa Khatami, Pedro Rissoli, Ricky Chen, Yudan Chen, +4 more
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A stepwise short- and long-read whole genome sequencing strategy resolves previous genetically unresolved inherited retinal disease cases2026 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Kim Rodenburg, Stefanida Shliaga, Lonneke Haer‐Wigman, Anneke T. Vulto‐van Silfhout, Erica G. M. Boonen, Lara K. Holtes, +24 more
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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 -
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease2021 preprint 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
7citations -
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 -
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 -
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium2024 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Pam A T Heutinck, L. Ingeborgh van den Born, Maikel Vermeer, Adriana I. Iglesias Gonzales, Carel B. Hoyng, Jan Willem R. Pott, +13 more
9citations -
CRB1 ‐Associated Inherited Retinal Dystrophies: Prospective Natural History Study With 4 Years of Follow‐Up2026 Clinical and Experimental Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Jessica S. Karuntu, Xuan‐Thanh‐An Nguyen, Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Maria M. van Genderen, +10 more
0citations -
Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies2024 Ophthalmology Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Leo C. Hahn, Isa van der Veen, Michalis Georgiou, Mary J. van Schooneveld, Jacoline B. ten Brink, Ralph J. Florijn, +5 more
6citations -
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function2023 Journal of Translational Medicine article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Melita Kaltak, Rocío Blanco-Garavito, Laurie L. Molday, Claire‐Marie Dhaenens, Eric E. Souied, Gerard J. Platenburg, +3 more
10citations -
Cognitive impairment and microvascular function in end‐stage renal disease2022 International Journal of Methods in Psychiatric Research article Medicine Dementia and Cognitive Impairment Research Open access
Susanne Angermann, Roman Günthner, Henner Hanssen, Georg Lorenz, Matthias C. Braunisch, Dominik Steubl, +9 more
10citations