Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder

por Bender, Chelsea, Woo, Elizabeth Geena, Guan, Bin, Ullah, Ehsan, Feng, Eric, Turriff, Amy, Tumminia, Santa J., Sieving, Paul A., Cukras, Catherine A., Hufnagel, Robert B.
Publicado 2022

Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics

por Aguilera, Nancy, Liu, Tao, Bower, Andrew J., Li, Joanne, Abouassali, Sarah, Lu, Rongwen, Giannini, John, Pfau, Maximilian, Bender, Chelsea, Smelkinson, Margery G., Naik, Amelia, Guan, Bin, Schwartz, Owen, Volkov, Andrei, Dubra, Alfredo, Liu, Zhuolin, Hammer, Daniel X., Maric, Dragan, Fariss, Robert, Hufnagel, Robert B., Jeffrey, Brett G., Brooks, Brian P., Zein, Wadih M., Huryn, Laryssa A., Tam, Johnny
Publicado 2022

Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure

por Boobalan, Elangovan, Thompson, Amy H., Alur, Ramakrishna P., McGaughey, David M., Dong, Lijin, Shih, Grace, Vieta-Ferrer, Emile R., Onojafe, Ighovie F., Kalaskar, Vijay K., Arno, Gavin, Lotery, Andrew J., Guan, Bin, Bender, Chelsea, Memon, Omar, Brinster, Lauren, Soleilhavoup, Clement, Panman, Lia, Badea, Tudor C., Minella, Andrea, Lopez, Antonio Jacobo, Thomasy, Sara M., Moshiri, Ala, Blain, Delphine, Hufnagel, Robert B., Cogliati, Tiziana, Bharti, Kapil, Brooks, Brian P.
Publicado 2022