Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease von Stone, Edwin M., MD, PhD, Andorf, Jeaneen L., BA, Whitmore, S. Scott, PhD, DeLuca, Adam P., PhD, Giacalone, Joseph C., BS, Streb, Luan M., BA, Braun, Terry A., PhD, Mullins, Robert F., PhD, Scheetz, Todd E., PhD, Sheffield, Val C., MD, PhD, Tucker, Budd A., PhD

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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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Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1 von Mazor, Masha, Alkrinawi, Soliman, Chalifa-Caspi, Vered, Manor, Esther, Sheffield, Val C., Aviram, Micha, Parvari, Ruti

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Transplantation of iPSC-derived TM cells rescues glaucoma phenotypes in vivo von Zhu, Wei, Gramlich, Oliver W., Laboissonniere, Lauren, Jain, Ankur, Sheffield, Val C., Trimarchi, Jeffrey M., Tucker, Budd A., Kuehn, Markus H.

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Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet–Biedl syndrome von Datta, Poppy, Allamargot, Chantal, Hudson, Joseph S., Andersen, Emily K., Bhattarai, Sajag, Drack, Arlene V., Sheffield, Val C., Seo, Seongjin

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Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome von Zhang, Qihong, Yu, Dahai, Seo, Seongjin, Stone, Edwin M., Sheffield, Val C.

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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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Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome von Westlake, Christopher J, Baye, Lisa M, Nachury, Maxence V, Wright, Kevin J, Ervin, Karen E, Phu, Lilian, Chalouni, Cecile, Beck, John S, Kirkpatrick, Donald S, Slusarski, Diane C, Sheffield, Val C, Scheller, Richard H, Jackson, Peter K

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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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BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly von Seo, Seongjin, Baye, Lisa M, Schulz, Nathan P, Beck, John S, Zhang, Qihong, Slusarski, Diane C, Sheffield, Val C

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Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways von Sang, Liyun, Miller, Julie J., Corbit, Kevin C., Giles, Rachel H., Brauer, Matthew J., Otto, Edgar A., Baye, Lisa M., Wen, Xiaohui, Scales, Suzie J., Kwong, Mandy, Huntzicker, Erik G., Sfakianos, Mindan K., Sandoval, Wendy, Bazan, J. Fernando, Kulkarni, Priya, Garcia-Gonzalo, Francesc R., Seol, Allen D., O'Toole, John F., Held, Susanne, Reutter, Heiko M., Lane, William S., Rafiq, Muhammad Arshad, Noor, Abdul, Ansar, Muhammad, Devi, Akella Radha Rama, Sheffield, Val C., Slusarski, Diane C., Vincent, John B., Doherty, Daniel A., Hildebrandt, Friedhelm, Reiter, Jeremy F., Jackson, Peter K.

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An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium von Wright, Kevin J, Baye, Lisa M, Olivier-Mason, Anique, Mukhopadhyay, Saikat, Sang, Liyun, Kwong, Mandy, Wang, Weiru, Pretorius, Pamela R, Sheffield, Val C, Sengupta, Piali, Slusarski, Diane C, Jackson, Peter K

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Mechanosensitive release of adenosine 5′-triphosphate through pannexin channels and mechanosensitive upregulation of pannexin channels in optic nerve head astrocytes: A mechanism f... von Beckel, Jonathan M., Argall, Arthur J., Lim, Jason C., Xia, Jingsheng, Lu, Wennan, Coffey, Erin E., Macarak, Edward J., Shahidullah, Mohammed, Delamere, Nicholas A., Zode, Gulab S., Sheffield, Val C., Shestopalov, Valery I., Laties, Alan M., Mitchell, Claire H.

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Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa von Tucker, Budd A, Scheetz, Todd E, Mullins, Robert F, DeLuca, Adam P, Hoffmann, Jeremy M, Johnston, Rebecca M, Jacobson, Samuel G, Sheffield, Val C, Stone, Edwin M

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Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease von Braun, Terry A, Mullins, Robert F, Wagner, Alex H, Andorf, Jeaneen L, Johnston, Rebecca M, Bakall, Benjamin B, Deluca, Adam P, Fishman, Gerald A, Lam, Byron L, Weleber, Richard G, Cideciyan, Artur V, Jacobson, Samuel G, Sheffield, Val C, Tucker, Budd A, Stone, Edwin M

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BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking von Zhang, Qihong, Nishimura, Darryl, Vogel, Tim, Shao, Jianqiang, Swiderski, Ruth, Yin, Terry, Searby, Charles, Carter, Calvin S, Kim, Gunhee, Bugge, Kevin, Stone, Edwin M, Sheffield, Val C

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Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes von Zhang, Qihong, Nishimura, Darryl, Seo, Seongjin, Vogel, Tim, Morgan, Donald A, Searby, Charles, Bugge, Kevin, Stone, Edwin M, Rahmouni, Kamal, Sheffield, Val C

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Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model von Weihbrecht, Katie, Goar, Wesley A, Carter, Calvin S, Sheffield, Val C, Seo, Seongjin

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A mouse model of Bardet-Biedl Syndrome has impaired fear memory, which is rescued by lithium treatment von Pak, Thomas K., Carter, Calvin S., Zhang, Qihong, Huang, Sunny C., Searby, Charles, Hsu, Ying, Taugher, Rebecca J., Vogel, Tim, Cychosz, Christopher C., Genova, Rachel, Moreira, Nina N., Stevens, Hanna, Wemmie, John A., Pieper, Andrew A., Wang, Kai, Sheffield, Val C.

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Gene therapy and gene correction: targets, progress, and challenges for treating human diseases von Cring, Matthew R., Sheffield, Val C.

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