aldh7a1 Regulates Eye and Limb Development in Zebrafish

por Babcock, Holly E., Dutta, Sunit, Alur, Ramakrishna P., Brocker, Chad, Vasiliou, Vasilis, Vitale, Susan, Abu-Asab, Mones, Brooks, Brian P.
Publicado 2014

High‐throughput custom capture sequencing identifies novel mutations in coloboma‐associated genes: Mutation in DNA‐binding domain of retinoic acid receptor beta affects nuclear loc...

por Kalaskar, Vijay K., Alur, Ramakrishna P., Li, LeeAnn K., Thomas, James W., Sergeev, Yuri V., Blain, Delphine, Hufnagel, Robert B., Cogliati, Tiziana, Brooks, Brian P.
Publicado 2019

Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism

por Varela, Malena Daich, Hufnagel, Robert B., Guan, Bin, Blain, Delphine, Sapp, Julie C., Gropman, Andrea L., Alur, Ramakrishna, Johnston, Jennifer J., Biesecker, Leslie G., Brooks, Brian P.
Publicado 2021

Papillorenal Syndrome-Causing Missense Mutations in PAX2/Pax2 Result in Hypomorphic Alleles in Mouse and Human

por Alur, Ramakrishna P., Vijayasarathy, Camasamudram, Brown, Jacob D., Mehtani, Mohit, Onojafe, Ighovie F., Sergeev, Yuri V., Boobalan, Elangovan, Jones, MaryPat, Tang, Ke, Liu, Haiquan, Xia, Chun-hong, Gong, Xiaohua, Brooks, Brian P.
Publicado 2010

Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3

por Onojafe, Ighovie F., Megan, Lucyanne H., Melch, Madeline G., Aderemi, Joseph O., Alur, Ramakrishna P., Abu-Asab, Mones S., Chan, Chi-Chao, Bernardini, Isa M., Albert, Jessica S., Cogliati, Tiziana, Adams, David R., Brooks, Brian P.
Publicado 2018

One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B

por Adams, David R., Menezes, Supriya, Jauregui, Ramon, Valivullah, Zaheer M., Power, Bradley, Abraham, Maria, Jeffrey, Brett G., Garced, Angel, Alur, Ramakrishna P., Cunningham, Denise, Wiggs, Edythe, Merideth, Melissa A., Chiang, Pei-Wen, Bernstein, Shanna, Ito, Shosuke, Wakamatsu, Kazumasa, Jack, Rhona M., Introne, Wendy J., Gahl, William A., Brooks, Brian P.
Publicado 2019

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