Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model von Ramsbottom, Simon A., Molinari, Elisa, Srivastava, Shalabh, Silberman, Flora, Henry, Charline, Alkanderi, Sumaya, Devlin, Laura A., White, Kathryn, Steel, David H., Saunier, Sophie, Miles, Colin G., Sayer, John A.

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ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition von Alkanderi, Sumaya, Molinari, Elisa, Shaheen, Ranad, Elmaghloob, Yasmin, Stephen, Louise A., Sammut, Veronica, Ramsbottom, Simon A., Srivastava, Shalabh, Cairns, George, Edwards, Noel, Rice, Sarah J., Ewida, Nour, Alhashem, Amal, White, Kathryn, Miles, Colin G., Steel, David H., Alkuraya, Fowzan S., Ismail, Shehab, Sayer, John A.

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A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies von Srivastava, Shalabh, Ramsbottom, Simon A, Molinari, Elisa, Alkanderi, Sumaya, Filby, Andrew, White, Kathryn, Henry, Charline, Saunier, Sophie, Miles, Colin G, Sayer, John A

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Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome von Ramsbottom, Simon A., Thelwall, Peter E., Wood, Katrina M., Clowry, Gavin J., Devlin, Laura A., Silbermann, Flora, Spiewak, Helena L., Shril, Shirlee, Molinari, Elisa, Hildebrandt, Friedhelm, Gunay-Aygun, Meral, Saunier, Sophie, Cordell, Heather J., Sayer, John A., Miles, Colin G.

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Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations von Devane, John, Ott, Elisabeth, Olinger, Eric G., Epting, Daniel, Decker, Eva, Friedrich, Anja, Bachmann, Nadine, Renschler, Gina, Eisenberger, Tobias, Briem-Richter, Andrea, Grabhorn, Enke Freya, Powell, Laura, Wilson, Ian J., Rice, Sarah J., Miles, Colin G., Wood, Katrina, Trivedi, Palak, Hirschfield, Gideon, Pietrobattista, Andrea, Wohler, Elizabeth, Mezina, Anya, Sobreira, Nara, Agolini, Emanuele, Maggiore, Giuseppe, Dahmer-Heath, Mareike, Yilmaz, Ali, Boerries, Melanie, Metzger, Patrick, Schell, Christoph, Grünewald, Inga, Konrad, Martin, König, Jens, Schlevogt, Bernhard, Sayer, John A., Bergmann, Carsten

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Human prostate organoid generation and the identification of prostate development drivers using inductive rodent tissues von Singh, Parmveer, Lanman, Nadia A, Kendall, Hannah L R, Wilson, Laura, Long, Ryan, Franco, Omar E, Buskin, Adriana, Miles, Colin G, Hayward, Simon W, Heer, Rakesh, Robson, Craig N

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Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts von Molinari, Elisa, Ramsbottom, Simon A., Srivastava, Shalabh, Booth, Philip, Alkanderi, Sumaya, McLafferty, Seamus M., Devlin, Laura A., White, Kathryn, Gunay-Aygun, Meral, Miles, Colin G., Sayer, John A.

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Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis von Hynes, Ann Marie, Giles, Rachel H., Srivastava, Shalabh, Eley, Lorraine, Whitehead, Jennifer, Danilenko, Marina, Raman, Shreya, Slaats, Gisela G., Colville, John G., Ajzenberg, Henry, Kroes, Hester Y., Thelwall, Peter E., Simmons, Nicholas L., Miles, Colin G., Sayer, John A.

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Increased hippocampal excitability in miR-324-null mice von Hayman, Dan J., Modebadze, Tamara, Charlton, Sarah, Cheung, Kat, Soul, Jamie, Lin, Hua, Hao, Yao, Miles, Colin G., Tsompani, Dimitra, Jackson, Robert M., Briggs, Michael D., Piróg, Katarzyna A., Clark, Ian M., Barter, Matt J., Clowry, Gavin J., LeBeau, Fiona E. N., Young, David A.

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Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants von Molinari, Elisa, Decker, Eva, Mabillard, Holly, Tellez, James, Srivastava, Shalabh, Raman, Shreya, Wood, Katrina, Kempf, Caroline, Alkanderi, Sumaya, Ramsbottom, Simon A, Miles, Colin G, Johnson, Colin A, Hildebrandt, Friedhelm, Bergmann, Carsten, Sayer, John A

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microRNA-seq of cartilage reveals an overabundance of miR-140-3p which contains functional isomiRs von Woods, Steven, Charlton, Sarah, Cheung, Kat, Hao, Yao, Soul, Jamie, Reynard, Louise N, Crowe, Natalie, Swingler, Tracey E, Skelton, Andrew J, Piróg, Katarzyna A, Miles, Colin G, Tsompani, Dimitra, Jackson, Robert M, Dalmay, Tamas, Clark, Ian M, Barter, Matt J, Young, David A

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Defining a therapeutic window for the novel TGF‐β inhibitor LY2157299 monohydrate based on a pharmacokinetic/pharmacodynamic model von Gueorguieva, Ivelina, Cleverly, Ann L., Stauber, Anja, Pillay, N. Sada, Rodon, Jordi A., Miles, Colin P., Yingling, Jonathan M., Lahn, Michael M.

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Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome von Devlin, Laura A., Coles, Janice, Jackson, Claire L., Barroso‐Gil, Miguel, Green, Ben, Walker, Woolf T., Thomas, N. Simon, Thompson, James, Rock, Simon A., Neatu, Ruxandra, Powell, Laura, Molinari, Elisa, Wilson, Ian J., Cordell, Heather J., Olinger, Eric, Miles, Colin G., Sayer, John A., Wheway, Gabrielle, Lucas, Jane S.

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Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping thera... von Barroso‐Gil, Miguel, Olinger, Eric, Ramsbottom, Simon A., Molinari, Elisa, Miles, Colin G., Sayer, John A.

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WT1 regulates murine hematopoiesis via maintenance of VEGF isoform ratio von Cunningham, Thomas J., Palumbo, Ilaria, Grosso, Michela, Slater, Nicholas, Miles, Colin G.

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Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia von Ruiz-Perez, Victor L, Blair, Helen J, Rodriguez-Andres, M Elena, Blanco, Maria Jose, Wilson, Amy, Liu, Yu-Ning, Miles, Colin, Peters, Heiko, Goodship, Judith A

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Expression profiling of antisense transcripts on DNA arrays von Werner, Andreas, Schmutzler, Gabriele, Carlile, Mark, Miles, Colin G, Peters, Heiko

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Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia von Kist, Ralf, Watson, Michelle, Wang, Xiaomeng, Cairns, Paul, Miles, Colin, Reid, Donald J., Peters, Heiko

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Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles von Ramsbottom, Simon, Miles, Colin, Sayer, John

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Characterization of the First Definitive Hematopoietic Stem Cells in the AGM and Liver of the Mouse Embryo von Sánchez, Mariá-José, Holmes, Alan, Miles, Colin, Dzierzak, Elaine

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