ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting von Humbert, Melissa C, Weihbrecht, Katie, Searby, Charles C, Li, Yalan, Pope, Robert M, Sheffield, Val C, Seo, Seongjin

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A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened von Seo, Seongjin, Zhang, Qihong, Bugge, Kevin, Breslow, David K, Searby, Charles C, Nachury, Maxence V, Sheffield, Val C

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ATF4 leads to glaucoma by promoting protein synthesis and ER client protein load von Kasetti, Ramesh B., Patel, Pinkal D., Maddineni, Prabhavathi, Patil, Shruti, Kiehlbauch, Charles, Millar, J. Cameron, Searby, Charles C., Raghunathan, VijayKrishna, Sheffield, Val C., Zode, Gulab S.

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BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment von Hsu, Ying, Garrison, Janelle E, Kim, Gunhee, Schmitz, Addison R, Searby, Charles C, Zhang, Qihong, Datta, Poppy, Nishimura, Darryl Y, Seo, Seongjin, Sheffield, Val C

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Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma von Zode, Gulab S, Kuehn, Markus H, Nishimura, Darryl Y, Searby, Charles C, Mohan, Kabhilan, Grozdanic, Sinisa D, Bugge, Kevin, Anderson, Michael G, Clark, Abbot F, Stone, Edwin M, Sheffield, Val C

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Simultaneous detection of the enzyme activities of GPx1 and GPx4 guide optimization of selenium in cell biological experiments von Stolwijk, Jeffrey M., Falls-Hubert, Kelly C., Searby, Charles C., Wagner, Brett A., Buettner, Garry R.

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Mice defective in Trpm6 show embryonic mortality and neural tube defects von Walder, Roxanne Y., Yang, Baoli, Stokes, John B., Kirby, Patricia A., Cao, Xiao, Shi, Peijun, Searby, Charles C., Husted, Russell F., Sheffield, Val C.

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Lentiviral mediated delivery of CRISPR/Cas9 reduces intraocular pressure in a mouse model of myocilin glaucoma von Patil, Shruti V., Kaipa, Balasankara Reddy, Ranshing, Sujata, Sundaresan, Yogapriya, Millar, J. Cameron, Nagarajan, Bhavani, Kiehlbauch, Charles, Zhang, Qihong, Jain, Ankur, Searby, Charles C., Scheetz, Todd E., Clark, Abbot F., Sheffield, Val C., Zode, Gulab S.

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Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein von Scott, Charles Anthony, Marsden, Autumn N, Rebagliati, Michael R, Zhang, Qihong, Chamling, Xitiz, Searby, Charles C, Baye, Lisa M, Sheffield, Val C, Slusarski, Diane C

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The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome von Chamling, Xitiz, Seo, Seongjin, Searby, Charles C, Kim, Gunhee, Slusarski, Diane C, Sheffield, Val C

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Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilin von Kasetti, Ramesh B, Maddineni, Prabhavathi, Kiehlbauch, Charles, Patil, Shruti, Searby, Charles C, Levine, Beth, Sheffield, Val C, Zode, Gulab S

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Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model von Hsu, Ying, Bhattarai, Sajag, Thompson, Jacob M., Mahoney, Angela, Thomas, Jacintha, Mayer, Sara K., Datta, Poppy, Garrison, Janelle, Searby, Charles C., Vandenberghe, Luk H., Seo, Seongjin, Sheffield, Val C., Drack, Arlene V.

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A Knockin Mouse Model of the Bardet-Biedl Syndrome 1 M390R Mutation Has Cilia Defects, Ventriculomegaly, Retinopathy, and Obesity von Davis, Roger E., Swiderski, Ruth E., Rahmouni, Kamal, Nishimura, Darryl Y., Mullins, Robert F., Agassandian, Khristofor, Philp, Alisdair R., Searby, Charles C., Andrews, Michael P., Thompson, Stewart, Berry, Christopher J., Thedens, Daniel R., Yang, Baoli, Weiss, Robert M., Cassell, Martin D., Stone, Edwin M., Sheffield, Val C.

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Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene von Nishimura, Darryl Y., Swiderski, Ruth E., Searby, Charles C., Berg, Erik M., Ferguson, Amanda L., Hennekam, Raoul, Merin, Saul, Weleber, Richard G., Biesecker, Leslie G., Stone, Edwin M., Sheffield, Val C.

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Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome von Mykytyn, Kirk, Nishimura, Darryl Y., Searby, Charles C., Shastri, Mythreyi, Yen, Hsan-jan, Beck, John S., Braun, Terry, Streb, Luan M., Cornier, Alberto S., Cox, Gerald F., Fulton, Anne B., Carmi, Rivka, Lüleci, Güven, Chandrasekharappa, Settara C., Collins, Francis S., Jacobson, Samuel G., Heckenlively, John R., Weleber, Richard G., Stone, Edwin M., Sheffield, Val C.

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Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform von Pretorius, Pamela R, Baye, Lisa M, Nishimura, Darryl Y, Searby, Charles C, Bugge, Kevin, Yang, Baoli, Mullins, Robert F, Stone, Edwin M, Sheffield, Val C, Slusarski, Diane C

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The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25 von Nishimura, Darryl Y., Swiderski, Ruth E., Alward, Wallace L. M., Searby, Charles C., Patil, Shivanand R., Bennet, Steven R., Kanis, Adam B., Gastier, Julie M., Stone, Edwin M., Sheffield, Val C.

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CRISPR-Cas9–based treatment of myocilin-associated glaucoma von Jain, Ankur, Zode, Gulab, Kasetti, Ramesh B., Ran, Fei A., Yan, Winston, Sharma, Tasneem P., Bugge, Kevin, Searby, Charles C., Fingert, John H., Zhang, Feng, Clark, Abbot F., Sheffield, Val C.

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A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye von Nishimura, Darryl Y., Searby, Charles C., Alward, Wallace L., Walton, David, Craig, Jamie E., Mackey, David A., Kawase, Kazuhide, Kanis, Adam B., Patil, Shivanand R., Stone, Edwin M., Sheffield, Val C.

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An open source and convenient method for the wide-spread testing of COVID-19 using deep throat sputum samples von Huang, Sunny C, Pak, Thomas K, Graber, Cameron P, Searby, Charles C, Liu, Guanghao, Marcy, Jennifer, Yaszemski, Alexandra K, Bedell, Kurt, Bui, Emily, Perlman, Stanley, Zhang, Qihong, Wang, Kai, Sheffield, Val C, Carter, Calvin S

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