Retinal Dystrophies

Displaying 1 - 7 of 7CSV
Faridi, R., Yousaf, R., Gu, S., Inagaki, S., Turriff, A. E., Pelstring, K., Guan, B., Naik, A., Griffith, A. J., Adadey, S. M., Aboagye, E. T., Awandare, G. A., Morell, R. J., Tsilou, E., Noyes, A. G., Sulmonte, L. A. G., Wonkam, A., Schrauwen, I., Leal, S. M., … Friedman, T. B. (2023). Variants of LRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clinical Genetics, 103(6), 699–703. Portico. https://doi.org/10.1111/cge.14312
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Paavo, M., Lee, W., Parmann, R., Lima de Carvalho, J. R., Zernant, J., Tsang, S. H., Allikmets, R., & Sparrow, J. R. (2023). Insights Into PROM1-Macular Disease Using Multimodal Imaging. Investigative Opthalmology & Visual Science, 64(4), 27. https://doi.org/10.1167/iovs.64.4.27
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Kolesnikova, M., Lima de Carvalho, J. R., Oh, J. K., Soucy, M., Demirkol, A., Kim, A. H., Tsang, S. H., & Breazzano, M. P. (2023). Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes. Investigative Opthalmology & Visual Science, 64(3), 23. https://doi.org/10.1167/iovs.64.3.23
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Oh, J. K., Vargas Del Valle, J. G., Lima de Carvalho, J. R., Sun, Y. J., Levi, S. R., Ryu, J., Yang, J., Nagasaki, T., Emanuelli, A., Rasool, N., Allikmets, R., Sparrow, J. R., Izquierdo, N. J., Duncan, J. L., Mahajan, V. B., & Tsang, S. H. (2022). Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series. Orphanet Journal of Rare Diseases, 17(1). https://doi.org/10.1186/s13023-022-02295-9
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Ganapathi, M., Thomas-Wilson, A., Buchovecky, C., Dharmadhikari, A., Barua, S., Lee, W., Ruan, M. Z. C., Soucy, M., Ragi, S., Tanaka, J., Clark, L. N., Naini, A. B., Liao, J., Mansukhani, M., Tsang, S., & Jobanputra, V. (2022). Clinical exome sequencing for inherited retinal degenerations at a tertiary care center. Scientific Reports, 12(1). https://doi.org/10.1038/s41598-022-13026-2
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Qian, T., Gong, Q., Shen, H., Li, C., Wang, G., Xu, X., Schrauwen, I., & Wang, W. (2022). Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus. BMC Ophthalmology, 22(1). https://doi.org/10.1186/s12886-022-02301-5
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Chiu, N., Lee, W., Liu, P.-K., Levi, S. R., Wang, H.-H., Chen, N., Kang, E. Y.-C., Seo, G. H., Lee, H., Liu, L., Wu, W.-C., Tsai, S. H., & Wang, N.-K. (2021). A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature. Ophthalmic Genetics, 43(3), 378–384. https://doi.org/10.1080/13816810.2021.2010773
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