Disrupting the ciliary gradient of active Arl3 affects rod photoreceptor nuclear migration

por Travis, Amanda M, Manocha, Samiya, Willer, Jason R, Wessler, Timothy S, Skiba, Nikolai P, Pearring, Jillian N
Publicado 2023

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

por Helm, Benjamin M., Willer, Jason R., Sadeghpour, Azita, Golzio, Christelle, Crouch, Eric, Vergano, Samantha Schrier, Katsanis, Nicholas, Davis, Erica E.
Publicado 2017

Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration

por Tan, Perciliz L., Garrett, Melanie E., Willer, Jason R., Campochiaro, Peter A., Campochiaro, Betsy, Zack, Donald J., Ashley-Koch, Allison E., Katsanis, Nicholas
Publicado 2017

Neural and Synaptic Defects in slytherin, a Zebrafish Model for Human Congenital Disorders of Glycosylation

por 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.
Publicado 2010

The tectonic complex regulates membrane protein composition in the photoreceptor cilium

por 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.
Publicado 2023

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

por 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
Publicado 2019

Maternal topoisomerase II alpha, not topoisomerase II beta, enables embryonic development of zebrafish top2a(-/- )mutants

por Sapetto-Rebow, Beata, McLoughlin, Sarah C, O'Shea, Lynne C, O'Leary, Olivia, Willer, Jason R, Alvarez, Yolanda, Collery, Ross, O'Sullivan, Jacintha, Van Eeden, Freek, Hensey, Carmel, Kennedy, Breandán N
Publicado 2011

Mutations in Zebrafish lrp2 Result in Adult-Onset Ocular Pathogenesis That Models Myopia and Other Risk Factors for Glaucoma

por 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.
Publicado 2011

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

por 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.
Publicado 2023

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

por Boldt, Karsten, van Reeuwijk, Jeroen, Lu, Qianhao, Koutroumpas, Konstantinos, Nguyen, Thanh-Minh T., Texier, Yves, van Beersum, Sylvia E. C., Horn, Nicola, Willer, Jason R., Mans, Dorus A., Dougherty, Gerard, Lamers, Ideke J. C., Coene, Karlien L. M., Arts, Heleen H., Betts, Matthew J., Beyer, Tina, Bolat, Emine, Gloeckner, Christian Johannes, Haidari, Khatera, Hetterschijt, Lisette, Iaconis, Daniela, Jenkins, Dagan, Klose, Franziska, Knapp, Barbara, Latour, Brooke, Letteboer, Stef J. F., Marcelis, Carlo L., Mitic, Dragana, Morleo, Manuela, Oud, Machteld M., Riemersma, Moniek, Rix, Susan, Terhal, Paulien A., Toedt, Grischa, van Dam, Teunis J. P., de Vrieze, Erik, Wissinger, Yasmin, Wu, Ka Man, Apic, Gordana, Beales, Philip L., Blacque, Oliver E., Gibson, Toby J., Huynen, Martijn A., Katsanis, Nicholas, Kremer, Hannie, Omran, Heymut, van Wijk, Erwin, Wolfrum, Uwe, Kepes, François, Davis, Erica E., Franco, Brunella, Giles, Rachel H., Ueffing, Marius, Russell, Robert B., Roepman, Ronald
Publicado 2016