Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts von JIANJUN CHEN, ZHIWEI MA, AMER RIAZUDDIN, S, FIELDING HEJTMANCIK, J, XIAODONG JIAO, FARISS, Robert, LEE KANTOROW, Wanda, KANTOROW, Marc, PRAS, Eran, FRYDMAN, Moshe, PRAS, Elon, RIAZUDDIN, Sheikh

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Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy von Riazuddin, S. Amer, Parker, David S., McGlumphy, Elyse J., Oh, Edwin C., Iliff, Benjamin W., Schmedt, Thore, Jurkunas, Ula, Schleif, Robert, Katsanis, Nicholas, Gottsch, John D.

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A single-base substitution in the seed region of miR-184 causes EDICT syndrome von Iliff, Benjamin W, Riazuddin, S Amer, Gottsch, John D

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Null Mutations in LTBP2 Cause Primary Congenital Glaucoma von Ali, Manir, McKibbin, Martin, Booth, Adam, Parry, David A., Jain, Payal, Riazuddin, S. Amer, Hejtmancik, J. Fielding, Khan, Shaheen N., Firasat, Sabika, Shires, Mike, Gilmour, David F., Towns, Katherine, Murphy, Anna-Louise, Azmanov, Dimitar, Tournev, Ivailo, Cherninkova, Sylvia, Jafri, Hussain, Raashid, Yasmin, Toomes, Carmel, Craig, Jamie, Mackey, David A., Kalaydjieva, Luba, Riazuddin, Sheikh, Inglehearn, Chris F.

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Mutations in AGBL1 Cause Dominant Late-Onset Fuchs Corneal Dystrophy and Alter Protein-Protein Interaction with TCF4 von Riazuddin, S. Amer, Vasanth, Shivakumar, Katsanis, Nicholas, Gottsch, John D.

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Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family von Jiao, Xiaodong, Khan, Shahid Y, Kaul, Haiba, Butt, Tariq, Naeem, Muhammad Asif, Riazuddin, Sheikh, Hejtmancik, J Fielding, Riazuddin, S Amer

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Transcriptome Profiling of Developing Murine Lens Through RNA Sequencing von Khan, Shahid Y, Hackett, Sean F, Lee, Mei-Chong W, Pourmand, Nader, Talbot, Jr, C Conover, Riazuddin, S Amer

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Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families von Li, Lin, Chen, Yabin, Jiao, Xiaodong, Jin, Chongfei, Jiang, Dan, Tanwar, Mukesh, Ma, Zhiwei, Huang, Li, Ma, Xiaoyin, Sun, Wenmin, Chen, Jianjun, Ma, Yan, M'hamdi, Oussama, Govindarajan, Gowthaman, Cabrera, Patricia E, Li, Jiali, Gupta, Nikhil, Naeem, Muhammad Asif, Khan, Shaheen N, Riazuddin, Sheikh, Akram, Javed, Ayyagari, Radha, Sieving, Paul A, Riazuddin, S Amer, Hejtmancik, J Fielding

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A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa von Chen, Yabin, Huang, Li, Jiao, Xiaodong, Riazuddin, Sheikh, Riazuddin, S Amer, Fielding Hetmancik, J

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Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma von Rauf, Bushra, Irum, Bushra, Khan, Shahid Y, Kabir, Firoz, Naeem, Muhammad Asif, Riazuddin, Sheikh, Ayyagari, Radha, Riazuddin, S Amer

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma von Rauf, Bushra, Khan, Shahid Y., Jiao, Xiaodong, Irum, Bushra, Ashfaq, Ramla, Zehra, Mubashra, Khan, Asma A., Naeem, Muhammad Asif, Shahzad, Mohsin, Riazuddin, Sheikh, Hejtmancik, J. Fielding, Riazuddin, S. Amer

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Examining the effects of cigarette smoke on mouse lens through a multi OMIC approach von Khan, Shahid Y., Ali, Muhammad, Jang, Yura, Ryu, Taekyung, Schwab, Andrew J., Ingram, Brian O., Cable, Peter H., Na, Chan Hyun, Handa, James T., Riazuddin, S. Amer

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Comparative transcriptome analysis of hESC- and iPSC-derived lentoid bodies von Ali, Muhammad, Kabir, Firoz, Thomson, Jason J., Ma, Yinghong, Qiu, Caihong, Delannoy, Michael, Khan, Shahid Y., Riazuddin, S. Amer

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Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC–RPEs model von Biswas, Pooja, Borooah, Shyamanga, Matsui, Hiroko, Voronchikhina, Marina, Zhou, Jason, Zawaydeh, Qais, Raghavendra, Pongali B., Ferreyra, Henry, Riazuddin, S. Amer, Wahlin, Karl, Frazer, Kelly A., Ayyagari, Radha

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A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa von Riazuddin, S. Amer, Iqbal, Muhammad, Wang, Yue, Masuda, Tomohiro, Chen, Yuhng, Bowne, Sara, Sullivan, Lori S., Waseem, Naushin H., Bhattacharya, Shomi, Daiger, Stephen P., Zhang, Kang, Khan, Shaheen N., Riazuddin, Sheikh, Hejtmancik, J. Fielding, Sieving, Paul A., Zack, Donald J., Katsanis, Nicholas

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FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1 von Khan, Shahid Y., Vasanth, Shivakumar, Kabir, Firoz, Gottsch, John D., Khan, Arif O., Chaerkady, Raghothama, Lee, Mei-Chong W., Leitch, Carmen C., Ma, Zhiwei, Laux, Julie, Villasmil, Rafael, Khan, Shaheen N., Riazuddin, Sheikh, Akram, Javed, Cole, Robert N., Talbot, C. Conover, Pourmand, Nader, Zaghloul, Norann A., Hejtmancik, J. Fielding, Riazuddin, S. Amer

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Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p von Riazuddin, S. Amer, Zaghloul, Norann A., Al-Saif, Amr, Davey, Lisa, Diplas, Bill H., Meadows, Danielle N., Eghrari, Allen O., Minear, Mollie A., Li, Yi-Ju, Klintworth, Gordon K., Afshari, Natalie, Gregory, Simon G., Gottsch, John D., Katsanis, Nicholas

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Autophagy Requirements for Eye Lens Differentiation and Transparency von Brennan, Lisa, Costello, M Joseph, Hejtmancik, J Fielding, Menko, A Sue, Riazuddin, S Amer, Shiels, Alan, Kantorow, Marc

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Aged Nrf2-Null Mice Develop All Major Types of Age-Related Cataracts von Rowan, Sheldon, Jiang, Shuhong, Francisco, Sarah G, Pomatto, Laura C D, Ma, Zhiwei, Jiao, Xiaodong, Campos, Maria M, Aryal, Sandeep, Patel, Shaili D, Mahaling, Binapani, Riazuddin, S Amer, Duh, Elia J, Lachke, Salil A, Hejtmancik, J Fielding, de Cabo, Rafael, FitzGerald, Paul G, Taylor, Allen

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Expansion of CTG18.1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs' Corneal Dystrophy von Vasanth, Shivakumar, Eghrari, Allen O, Gapsis, Briana C, Wang, Jiangxia, Haller, Nicolas F, Stark, Walter J, Katsanis, Nicholas, Riazuddin, S Amer, Gottsch, John D

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