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Papers per year
Papers 149
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CRB1-Associated Retinal Dystrophy Patients Have Expanded Lewis Glycoantigen-Positive T Cells2023 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Lude Moekotte, Jonas J. W. Kuiper, Sanne Hiddingh, Xuan‐Thanh‐An Nguyen, Camiel J. F. Boon, L. Ingeborgh van den Born, +2 more
9citations -
Quality of life in patients with CRB1‐associated retinal dystrophies: A longitudinal study2023 Acta Ophthalmologica 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, +9 more
9citations -
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 -
Degenerated Cones in Cultured Human Retinas Can Successfully Be Optogenetically Reactivated2020 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Sizar Kamar, Marcus H. C. Howlett, Wim de Graaff, Tamás Csikós, Martijn J. W. E. Rabelink, Rob C. Hoeben, +1 more
9citations -
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 -
Nystagmus Characteristics in Albinism: Unveiling the Link to Foveal Hypoplasia and Visual Acuity2023 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Herman E. Talsma, Charlotte C. Kruijt, Gerard C. de Wit, Stefan H. L. Zwerver, Maria M. van Genderen
8citations -
QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease2024 Scientific Reports article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Melita Kaltak, Willemijn van Leeuwen, Gerard J. Platenburg, Frans P.M. Cremers, Rob W.J. Collin, Jim Swildens
8citations -
Electrophysiological properties of layer 2/3 pyramidal neurons in the primary visual cortex of a retinitis pigmentosa mouse model (rd10)2023 Frontiers in Cellular Neuroscience article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Claas Halfmann, Thomas Rüland, Frank Ulrich Müller, Kévin Jehasse, Björn M. Kampa
7citations -
Clinical and mutational characteristics of oculocutaneous albinism type 72024 Scientific Reports article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Charlotte C. Kruijt, Gerard C. de Wit, Helena Maria van Minderhout, Nicoline Elisabeth Schalij-Delfos, Maria M. van Genderen
7citations -
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy2024 Scientific Reports article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Cansu de Muijnck, Lonneke Haer‐Wigman, Judith A.M. van Everdingen, Tanya Lushchyk, Pam A T Heutinck, Marieke F. van Dooren, +11 more
7citations -
Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries. An International Survey by the European Vision Institute2024 Ophthalmic Research article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Giacomo Calzetti, Kerstin Schwarzwälder, Giovanni Ottonelli, Karolina Kamińska, Rupert Wolfgang Strauss, Bart Peter Leroy, +17 more
7citations -
The STArgardt Remofuscin Treatment Trial (STARTT): design and baseline characteristics of enrolled Stargardt patients2022 Open Research Europe article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Patty P.A. Dhooge, Philipp T. Möller, Camiel J. F. Boon, Andrew John Lotery, Philipp Herrmann, Maurízio Battaglia Parodi, +9 more
7citations -
Retinal Proteomics of a Mouse Model of Dystroglycanopathies Reveals Molecular Alterations in Photoreceptors2021 Journal of Proteome Research article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access cited by 1 patent
Mary Luz Uribe, José Martín‐Nieto, Cristina Quereda, Marcos Rubio‐Fernández, Jesús Cruces, George M. C. Janssen, +3 more
7citations -
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: genotype–phenotype correlations –KCNV2study group report 32023 British Journal of Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Thales A. C. de Guimarães, Michalis Georgiou, Anthony G. Robson, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, +30 more
6citations -
Artificial intelligence‐quantified schisis volume as a structural endpoint for gene therapy clinical trials in X‐linked retinoschisis2025 Acta Ophthalmologica article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Tien‐En Tan, Peilun Dai, Jonathan Hensman, Petèr Király, Beau James Fenner, Rick Siow Mong Goh, +4 more
6citations -
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 -
Results of a phase 1b/2 trial of intravitreal (IVT) sepofarsen (QR-110) antisense oligonucleotide in Leber congenital amaurosis 10 (LCA10) due to p.Cys998X mutation in the CEP290 gene2020 Investigative Ophthalmology & Visual Science 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, Wanda L. Pfeifer, +9 more
5citations
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