-
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 -
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 -
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 -
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 -
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 -
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 -
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 -
ABCA4 Versus PRPH2 -Associated Retinopathy: Clinical and Electrophysiological Findings2026 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, Andrea Louise Vincent, Minal Patil, Lorenzo Bianco, +26 more
0citations
9 results