Genetic testing: Getting it right

por Paredes, Diego I., Haefeli, Lorena M., Okoye, Onochie, Capasso, Jenina E., Wyman, Celeste, Khetan, Vikas, Levin, Alex V.
Publicado 2023

Organophosphate retinopathy

por Pham, Hang, Lingao, Michelle D., Ganesh, Anuradha, Capasso, Jenina E., Keep, Rosanne, Sadagopan, Karthikeyan A., Levin, Alex V.
Publicado 2016

Spectrum of PEX1 and PEX6 variants in Heimler syndrome

por Smith, Claire E L, Poulter, James A, Levin, Alex V, Capasso, Jenina E, Price, Susan, Ben-Yosef, Tamar, Sharony, Reuven, Newman, William G, Shore, Roger C, Brookes, Steven J, Mighell, Alan J, Inglehearn, Chris F
Publicado 2016

Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4

por van der Ende, Sarah R., Meyers, Benjamin S., Capasso, Jenina E., Sasongko, Mario, Yonekawa, Yoshihiro, Pihlblad, Matthew, Huey, Jennifer, Bedoukian, Emma C., Krantz, Ian D., Ngo, Michael H., McMaster, Christopher R., Levin, Alex V., Robitaille, Johane M.
Publicado 2022

Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach

por Petersen-Jones, Simon M., Occelli, Laurence M., Winkler, Paige A., Lee, Winston, Sparrow, Janet R., Tsukikawa, Mai, Boye, Sanford L., Chiodo, Vince, Capasso, Jenina E., Becirovic, Elvir, Schön, Christian, Seeliger, Mathias W., Levin, Alex V., Michalakis, Stylianos, Hauswirth, William W., Tsang, Stephen H.
Publicado 2017