Cone-Rod Dystrophies

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Soucy, M., Kolesnikova, M., Kim, A. H., & Tsang, S. H. (2023). Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy. Documenta Ophthalmologica, 146(3), 267–272. https://doi.org/10.1007/s10633-022-09916-5
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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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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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