Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration

por Shoshany, Nadav, Weiner, Chen, Safir, Margarita, Einan-Lifshitz, Adi, Pokroy, Russell, Kol, Ayala, Modai, Shira, Shomron, Noam, Pras, Eran
Publicado 2019

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts

por Irum, Bushra, Kabir, Firoz, Shoshany, Nadav, Khan, Shahid Y., Rauf, Bushra, Naeem, Muhammad Asif, Qaiser, Tanveer A., Riazuddin, Sheikh, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Publicado 2022

CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago

por Ma, Yan, Wang, Xun, Shoshany, Nadav, Jiao, Xiaodong, Lee, Adrian, Ku, Gregory, Baple, Emma L., Fasham, James, Nadeem, Raheela, Naeem, Muhammad Asif, Riazuddin, Sheikh, Riazuddin, S. Amer, Crosby, Andrew H., Hejtmancik, J. Fielding
Publicado 2022