Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations

por Lopes da Costa, Bruna, Kolesnikova, Masha, Levi, Sarah R., Cabral, Thiago, Tsang, Stephen H., Maumenee, Irene H., Quinn, Peter M. J.
Publicado 2023

Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis

por Ragi, Sara D., Lima de Carvalho, Jose Ronaldo, Tanaka, Akemi J., Park, Karen Sophia, Mahajan, Vinit B., Maumenee, Irene H., Tsang, Stephen H.
Publicado 2019

Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity

por Liu, Katherine Y., Sengillo, Jesse D., Velez, Gabriel, Jauregui, Ruben, Sakai, Lynn Y., Maumenee, Irene H., Bassuk, Alexander G., Mahajan, Vinit B., Tsang, Stephen H.
Publicado 2018

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

por Abdelhakim, Aliaa H., Dharmadhikari, Avinash V., Ragi, Sara D., de Carvalho, Jose Ronaldo Lima, Xu, Christine L., Thomas, Amanda L., Buchovecky, Christie M., Mansukhani, Mahesh M., Naini, Ali B., Liao, Jun, Jobanputra, Vaidehi, Maumenee, Irene H., Tsang, Stephen H.
Publicado 2020