Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome von Lindstrand, Anna, Frangakis, Stephan, Carvalho, Claudia M.B., Richardson, Ellen B., McFadden, Kelsey A., Willer, Jason R., Pehlivan, Davut, Liu, Pengfei, Pediaditakis, Igor L., Sabo, Aniko, Lewis, Richard Alan, Banin, Eyal, Lupski, James R., Davis, Erica E., Katsanis, Nicholas

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Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome von Lindstrand, Anna, Davis, Erica E., Carvalho, Claudia M.B., Pehlivan, Davut, Willer, Jason R., Tsai, I-Chun, Ramanathan, Subhadra, Zuppan, Craig, Sabo, Aniko, Muzny, Donna, Gibbs, Richard, Liu, Pengfei, Lewis, Richard A., Banin, Eyal, Lupski, James R., Clark, Robin, Katsanis, Nicholas

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A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans von Brooks, Susan S, Wall, Alissa L, Golzio, Christelle, Reid, David W, Kondyles, Amalia, Willer, Jason R, Botti, Christina, Nicchitta, Christopher V, Katsanis, Nicholas, Davis, Erica E

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The tectonic complex regulates membrane protein composition in the photoreceptor cilium von Truong, Hanh M., Cruz-Colón, Kevin O., Martínez-Márquez, Jorge Y., Willer, Jason R., Travis, Amanda M., Biswas, Sondip K., Lo, Woo-Kuen, Bolz, Hanno J., Pearring, Jillian N.

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Disrupting the ciliary gradient of active Arl3 affects rod photoreceptor nuclear migration von Travis, Amanda M, Manocha, Samiya, Willer, Jason R, Wessler, Timothy S, Skiba, Nikolai P, Pearring, Jillian N

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Mutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucoma von Veth, Kerry N, Willer, Jason R, Collery, Ross F, Gray, Matthew P, Willer, Gregory B, Wagner, Daniel S, Mullins, Mary C, Udvadia, Ava J, Smith, Richard S, John, Simon W M, Gregg, Ronald G, Link, Brian A

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Neural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylation von Song, Yuanquan, Willer, Jason R, Scherer, Paul C, Panzer, Jessica A, Kugath, Amy, Skordalakes, Emmanuel, Gregg, Ronald G, Willer, Gregory B, Balice-Gordon, Rita J

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De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome von Burrage, Lindsay C., Charng, Wu-Lin, Eldomery, Mohammad K., Willer, Jason R., Davis, Erica E., Lugtenberg, Dorien, Zhu, Wenmiao, Leduc, Magalie S., Akdemir, Zeynep C., Azamian, Mahshid, Zapata, Gladys, Hernandez, Patricia P., Schoots, Jeroen, de Munnik, Sonja A., Roepman, Ronald, Pearring, Jillian N., Jhangiani, Shalini, Katsanis, Nicholas, Vissers, Lisenka E.L.M., Brunner, Han G., Beaudet, Arthur L., Rosenfeld, Jill A., Muzny, Donna M., Gibbs, Richard A., Eng, Christine M., Xia, Fan, Lalani, Seema R., Lupski, James R., Bongers, Ernie M.H.F., Yang, Yaping

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Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion von Spataro, Rossella, Kousi, Maria, Farhan, Sali M K, Willer, Jason R, Ross, Jay P, Dion, Patrick A, Rouleau, Guy A, Daly, Mark J, Neale, Benjamin M, La Bella, Vincenzo, Katsanis, Nicholas

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rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA von Haud, Noémie, Kara, Firat, Diekmann, Simone, Henneke, Marco, Willer, Jason R., Hillwig, Melissa S., Gregg, Ronald G., MacIntosh, Gustavo C., Gärtner, Jutta, Alia, A., Hurlstone, Adam F. L., Moore, Melissa J.

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Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome von Helm, Benjamin M, Willer, Jason R, Sadeghpour, Azita, Golzio, Christelle, Crouch, Eric, Vergano, Samantha Schrier, Katsanis, Nicholas, Davis, Erica E

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TNF Promoter Hypomethylation Is Associated With Mucosal Inflammation in IBD and Anti-TNF Response von Levic, Daniel S., Niedzwiecki, Donna, Kandakatla, Apoorva, Karlovich, Norah S., Juneja, Arjun, Park, Jieun, Stolarchuk, Christina, Adams, Shanté, Willer, Jason R., Schaner, Matthew R., Lian, Grace, Beasley, Caroline, Marjoram, Lindsay, Flynn, Ann D., Valentine, John F., Onken, Jane E., Sheikh, Shehzad Z., Davis, Erica E., Evason, Kimberley J., Garman, Katherine S., Bagnat, Michel

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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome von Shaw, Natalie D, Brand, Harrison, Kupchinsky, Zachary A, Bengani, Hemant, Plummer, Lacey, Jones, Takako I, Erdin, Serkan, Williamson, Kathleen A, Rainger, Joe, Stortchevoi, Alexei, Samocha, Kaitlin, Currall, Benjamin B, Dunican, Donncha S, Collins, Ryan L, Willer, Jason R, Lek, Angela, Lek, Monkol, Nassan, Malik, Pereira, Shahrin, Kammin, Tammy, Lucente, Diane, Silva, Alexandra, Seabra, Catarina M, Chiang, Colby, An, Yu, Ansari, Morad, Rainger, Jacqueline K, Joss, Shelagh, Smith, Jill Clayton, Lippincott, Margaret F, Singh, Sylvia S, Patel, Nirav, Jing, Jenny W, Law, Jennifer R, Ferraro, Nalton, Verloes, Alain, Rauch, Anita, Steindl, Katharina, Zweier, Markus, Scheer, Ianina, Sato, Daisuke, Okamoto, Nobuhiko, Jacobsen, Christina, Tryggestad, Jeanie, Chernausek, Steven, Schimmenti, Lisa A, Brasseur, Benjamin, Cesaretti, Claudia, García-Ortiz, Jose E, Buitrago, Tatiana Pineda, Silva, Orlando Perez, Hoffman, Jodi D, Mühlbauer, Wolfgang, Ruprecht, Klaus W, Loeys, Bart L, Shino, Masato, Kaindl, Angela M, Cho, Chie-Hee, Morton, Cynthia C, Meehan, Richard R, van Heyningen, Veronica, Liao, Eric C, Balasubramanian, Ravikumar, Hall, Janet E, Seminara, Stephanie B, Macarthur, Daniel, Moore, Steven A, Yoshiura, Koh-ichiro, Gusella, James F, Marsh, Joseph A, Graham, John M, Lin, Angela E, Katsanis, Nicholas, Jones, Peter L, Crowley, William F, Davis, Erica E, FitzPatrick, David R, Talkowski, Michael E

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Muscle Contractions Guide Rohon-Beard Peripheral Sensory Axons von Paulus, Jeremiah D, Willer, Gregory B, Willer, Jason R, Gregg, Ronald G, Halloran, Mary C

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The GARP Domain of the Rod CNG Channel's β1-Subunit Contains Distinct Sites for Outer Segment Targeting and Connecting to the Photoreceptor Disk Rim von Pearring, Jillian N, Martínez-Márquez, Jorge, Willer, Jason R, Lieu, Eric C, Salinas, Raquel Y, Arshavsky, Vadim Y

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Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome von Ta-Shma, Asaf, Khan, Tahir N., Vivante, Asaf, Willer, Jason R., Matak, Pavle, Jalas, Chaim, Pode-Shakked, Ben, Salem, Yishay, Anikster, Yair, Hildebrandt, Friedhelm, Katsanis, Nicholas, Elpeleg, Orly, Davis, Erica E.

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TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone von Huang, Lijia, Szymanska, Katarzyna, Jensen, Victor L., Janecke, Andreas R., Innes, A. Micheil, Davis, Erica E., Frosk, Patrick, Li, Chunmei, Willer, Jason R., Chodirker, Bernard N., Greenberg, Cheryl R., McLeod, D. Ross, Bernier, Francois P., Chudley, Albert E., Müller, Thomas, Shboul, Mohammad, Logan, Clare V., Loucks, Catrina M., Beaulieu, Chandree L., Bowie, Rachel V., Bell, Sandra M., Adkins, Jonathan, Zuniga, Freddi I., Ross, Kevin D., Wang, Jian, Ban, Matthew R., Becker, Christian, Nürnberg, Peter, Douglas, Stuart, Craft, Cheryl M., Akimenko, Marie-Andree, Hegele, Robert A., Ober, Carole, Utermann, Gerd, Bolz, Hanno J., Bulman, Dennis E., Katsanis, Nicholas, Blacque, Oliver E., Doherty, Dan, Parboosingh, Jillian S., Leroux, Michel R., Johnson, Colin A., Boycott, Kym M.

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CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis von Nuzhat, Nafisa, Van Schil, Kristof, Liakopoulos, Sandra, Bauwens, Miriam, Rey, Alfredo Dueñas, Käseberg, Stephan, Jäger, Melanie, Willer, Jason R, Winter, Jennifer, Truong, Hanh M, Gruartmoner, Nuria, Van Heetvelde, Mattias, Wolf, Joachim, Merget, Robert, Grasshoff-Derr, Sabine, Van Dorpe, Jo, Hoorens, Anne, Stöhr, Heidi, Mansard, Luke, Roux, Anne-Françoise, Langmann, Thomas, Dannhausen, Katharina, Rosenkranz, David, Wissing, Karl M, Van Lint, Michel, Rossmann, Heidi, Häuser, Friederike, Nürnberg, Peter, Thiele, Holger, Zechner, Ulrich, Pearring, Jillian N, De Baere, Elfride, Bolz, Hanno J

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Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31 von Villanueva, Adda, Willer, Jason R, Bryois, Julien, Dermitzakis, Emmanouil T, Katsanis, Nicholas, Davis, Erica E

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Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration von Tan, Perciliz L, Garrett, Melanie E, Willer, Jason R, Campochiaro, Peter A, Campochiaro, Betsy, Zack, Donald J, Ashley-Koch, Allison E, Katsanis, Nicholas

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