Papers matching “inherited retinal disease” in Retinal Development and Disorders 34
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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 -
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 -
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 -
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 -
Elevated Plasma Complement Factors in CRB1 -associated Inherited Retinal Dystrophies2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Lude Moekotte, Joke H. de Boer, Sanne Hiddingh, Aafke de Ligt, Xuan‐Thanh‐An Nguyen, Carel B. Hoyng, +27 more
0citations -
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies2025 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Lude Moekotte, Joke H. de Boer, Sanne Hiddingh, Aafke de Ligt, Xuan‐Thanh‐An Nguyen, Carel B. Hoyng, +28 more
3citations -
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 -
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 -
Defining Phenotype, Tropism, and Retinal Gene Therapy Using Adeno-Associated Viral Vectors (AAVs) in New-Born Brown Norway Rats with a Spontaneous Mutation in Crb12021 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Nanda Boon, C. Henrique Alves, Aat A. Mulder, Charlotte A. Andriessen, Thilo M. Buck, Peter M. J. Quinn, +4 more
14citations -
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 -
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 -
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 cited by 1 patent
Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, +67 more
143citations -
USH2A High-Capacity Adenoviral Vector Restores usherin, whirlin, and ADGRV1 in Photoreceptor Cells of Retinal Organoids2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Rossella Valenzano, Xuefei Lu, Aat A. Mulder, Elon H C van Dijk, Roman I. Koning, Manuel A.F.V. Gonçalves, +1 more
0citations -
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 -
Loss of ABCA4 from photoreceptor discs is associated with glial transcriptomic changes in retinal organoids2026 Stem Cells article 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 -
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 -
Clinical endpoints special session, ISCEV 2025, Utrecht2026 Documenta Ophthalmologica article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Ruth Hamilton, David G. Birch, Katarína Štingl, K. Fujinami, K. Holopigian, Camiel J. F. Boon, +4 more
0citations -
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 cited by 1 patent
Bart Peter Leroy, David G. Birch, Jacque L. Duncan, Byron L. Lam, Robert K. Koenekoop, Fernanda Belga Ottoni Porto, +2 more
61citations -
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