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Retinal Development and Disorders Sign in to save
Papers per year
Papers 149
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RNA-based therapies in inherited retinal diseases2022 Therapeutic Advances in Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access cited by 1 patent
Aniz Girach, Isabelle S. Audo, David G. Birch, Rachel M. Huckfeldt, Byron L. Lam, Bart Peter Leroy, +6 more
36citations -
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 -
Noninvasive Electrical Stimulation Improves Photoreceptor Survival and Retinal Function in Mice with Inherited Photoreceptor Degeneration2020 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Honghua Yu, Sam Enayati, Karen L. Chang, Kin‐Sang Cho, Seung Woo Lee, Mays Talib, +6 more
36citations -
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy2022 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access cited by 1 patent
Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal, Víctor López-Soriano, Eva D’haene, Fadi S. Shaya, +23 more
33citations -
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 -
CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up2021 British Journal of Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Mays Talib, Caroline Van Cauwenbergh, Julie De Zaeytijd, David Van Wynsberghe, Camiel J. F. Boon, Bart Peter Leroy
32citations -
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 -
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients2024 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Rachael C. Heath Jeffery, Jennifer A. Thompson, Johnny Lo, Enid S. Chelva, Sean Armstrong, Jose S. Pulido, +36 more
28citations -
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences2022 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Charlotte C. Kruijt, Libe Gradstein, Arthur A B Bergen, Ralph J. Florijn, Benoı̂t Arveiler, Eulalie Lasseaux, +10 more
26citations -
Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies2021 Acta Ophthalmologica article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Maria M. van Genderen, Nicoline Elisabeth Schalij-Delfos, Herman E. Talsma, +8 more
24citations -
AAV-CRB2 protects against vision loss in an inducible CRB1 retinitis pigmentosa mouse model2020 Molecular Therapy — Methods & Clinical Development article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Thilo M. Buck, Rogier M. Vos, C. Henrique Alves, Jan Wijnholds
23citations -
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 Natural History of Leber Congenital Amaurosis and Cone–Rod Dystrophy Associated with Variants in the GUCY2D Gene2022 Ophthalmology Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Leo C. Hahn, Michalis Georgiou, Hind Almushattat, Mary J. van Schooneveld, Emanuel Ramos de Carvalho, Nieneke L. Wesseling, +23 more
22citations -
Clinical Phenotype and Course of PDE6A -Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial2020 JAMA Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Laura Kuehlewein, Ditta Zobor, Sten Andréasson, Carmen Ayuso, Sandro Banfi, Béatrice Bocquet, +19 more
20citations -
Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial2022 Ophthalmology Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Artur V. Cideciyan, Samuel G. Jacobson, Allen C. Ho, Arun K. Krishnan, Alejandro J. Román, Alexandra V. Garafalo, +8 more
18citations -
Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide in CEP290-LCA: Replication in two eyes2023 American Journal of Ophthalmology Case Reports article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Artur V. Cideciyan, Samuel G. Jacobson, Allen C. Ho, Małgorzata Świder, Alexander Sumaroka, Alejandro J. Román, +4 more
17citations -
Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis2023 Ophthalmology Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Jonathan Hensman, Leo C. Hahn, Mary J. van Schooneveld, Roselie M.H. Diederen, Jacoline B. ten Brink, Ralph J. Florijn, +10 more
17citations
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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Aniz Girach 3,986 citations overall9 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