Papers matching “retinal development” in Retinal Development and Disorders 149
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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 -
The Role of Small Molecules and Their Effect on the Molecular Mechanisms of Early Retinal Organoid Development2021 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Ellie L. Wagstaff, Andrea Heredero Berzal, Camiel J. F. Boon, Peter M. J. Quinn, Anneloor L.M.A. ten Asbroek, Arthur A B Bergen
42citations -
Investigating the Role of Zebrafish Retinoschisin Homologs Rs1a and Rs1b During Retinal Development2025 Developmental Neurobiology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Isa van der Veen, Céline Koster, Jacoline B. ten Brink, Maarten Kamermans, Camiel J. F. Boon
0citations -
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
Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal, Víctor López-Soriano, Eva D’haene, Fadi S. Shaya, +23 more
33citations -
Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis -regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal, Víctor López-Soriano, Eva D’haene, Fadi S. Shaya, +23 more
3citations -
The retinal pigmentation pathway in human albinism: Not so black and white2022 Progress in Retinal and Eye Research article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Reinier Bakker, Ellie L. Wagstaff, Charlotte C. Kruijt, Eszter Emri, Clara D.M. van Karnebeek, Michael B. Hoffmann, +5 more
82citations -
AAV-mediated gene augmentation therapy of CRB1 patient-derived retinal organoids restores the histological and transcriptional retinal phenotype2023 Stem Cell Reports article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Nanda Boon, Xuefei Lu, Charlotte A. Andriessen, Ioannis Moustakas, Thilo M. Buck, Christiaan H. Arendzen, +4 more
46citations -
Characterization and AAV-mediated CRB gene augmentation in human-derived CRB1KO and CRB1KOCRB2+/− retinal organoids2023 Molecular Therapy — Methods & Clinical Development article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Nanda Boon, Xuefei Lu, Charlotte A. Andriessen, M A Orlova, Peter M. J. Quinn, Camiel J. F. Boon, +1 more
11citations -
Molecular and Functional Characterization of BDNF-Overexpressing Human Retinal Pigment Epithelial Cells Established by Sleeping Beauty Transposon-Mediated Gene Transfer2022 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Larissa Mattern, Katrin Otten, Csaba Miskey, Matthias Fuest, Zsuzsanna Izsvák, Zoltán Ivics, +2 more
9citations -
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 -
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 -
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 -
RNA-based therapies in inherited retinal diseases2022 Therapeutic Advances in Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Aniz Girach, Isabelle S. Audo, David G. Birch, Rachel M. Huckfeldt, Byron L. Lam, Bart Peter Leroy, +6 more
36citations -
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 -
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 -
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 -
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 -
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 -
Retinitis Pigmentosa GTPase regulator–Associated Retinal Degeneration: Integrating Patient-Reported Outcomes, Genetic, and Structural Biomarkers2025 Ophthalmology Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Nuno Gouveia, Jessica S. Karuntu, Hind Almushattat, Rufino Martins da Silva, Camiel J. F. Boon, João Pedro Marques
4citations