Whole Exome Sequencing of a Dominant Retinitis Pigmentosa Family Identifies a Novel Deletion in PRPF31

door Villanueva, Adda, Willer, Jason R., Bryois, Julien, Dermitzakis, Emmanouil T., Katsanis, Nicholas, Davis, Erica E.
Gepubliceerd in 2014

Muscle Contractions Guide Rohon–Beard Peripheral Sensory Axons

door Paulus, Jeremiah D., Willer, Gregory B., Willer, Jason R., Gregg, Ronald G., Halloran, Mary C.
Gepubliceerd in 2009

Zebrafish blowout provides genetic evidence for Patched1 mediated negative regulation of Hedgehog signaling within the proximal optic vesicle of the vertebrate eye

door Lee, Jiwoon, Willer, Jason R., Willer, Gregory B., Smith, Kierann, Gregg, Ronald G., Gross, Jeffrey M.
Gepubliceerd in 2008

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

door Pearring, Jillian N., Martínez-Márquez, Jorge, Willer, Jason R., Lieu, Eric C., Salinas, Raquel Y., Arshavsky, Vadim Y.
Gepubliceerd in J Neurosci (2021)

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

door Helm, Benjamin M., Willer, Jason R., Sadeghpour, Azita, Golzio, Christelle, Crouch, Eric, Vergano, Samantha Schrier, Katsanis, Nicholas, Davis, Erica E.
Gepubliceerd in Hum Genomics (2017)

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

door Tan, Perciliz L., Garrett, Melanie E., Willer, Jason R., Campochiaro, Peter A., Campochiaro, Betsy, Zack, Donald J., Ashley-Koch, Allison E., Katsanis, Nicholas
Gepubliceerd in Invest Ophthalmol Vis Sci (2017)

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

door 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.
Gepubliceerd in 2010

A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans

door 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.
Gepubliceerd in 2014

rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA

door 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.
Gepubliceerd in 2011

Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome

door 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.
Gepubliceerd in Am J Hum Genet (2017)

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

door 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
Gepubliceerd in Hum Genomics (2019)

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

door 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
Gepubliceerd in 2011

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

door 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.
Gepubliceerd in 2011

Loss of Lrp2 in zebrafish disrupts pronephric tubular clearance but not forebrain development

door Kur, Esther, Christa, Anna, Veth, Kerry N., Gajera, Chandresh R., Andrade-Navarro, Miguel A., Zhang, Jingjing, Willer, Jason R., Gregg, Ronald G., Abdelilah-Seyfried, Salim, Bachmann, Sebastian, Link, Brian A., Hammes, Annette, Willnow, Thomas E.
Gepubliceerd in 2011

Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome

door 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
Gepubliceerd in 2014

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

door 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
Gepubliceerd in Am J Hum Genet (2016)

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome

door 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
Gepubliceerd in Am J Hum Genet (2015)

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

door 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.
Gepubliceerd in 2011

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

door 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
Gepubliceerd in Nat Commun (2016)

TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities

door Wiszniewski, Wojciech, Hunter, Jill V., Hanchard, Neil A., Willer, Jason R., Shaw, Chad, Tian, Qi, Illner, Anna, Wang, Xueqing, Cheung, Sau W., Patel, Ankita, Campbell, Ian M., Gelowani, Violet, Hixson, Patricia, Ester, Audrey R., Azamian, Mahshid S., Potocki, Lorraine, Zapata, Gladys, Hernandez, Patricia P., Ramocki, Melissa B., Santos-Cortez, Regie L.P., Wang, Gao, York, Michele K., Justice, Monica J., Chu, Zili D., Bader, Patricia I., Omo-Griffith, Lisa, Madduri, Nirupama S., Scharer, Gunter, Crawford, Heather P., Yanatatsaneejit, Pattamawadee, Eifert, Anna, Kerr, Jeffery, Bacino, Carlos A., Franklin, Adiaha I.A., Goin-Kochel, Robin, Simpson, Gayle, Immken, Ladonna, Haque, Muhammad E., Stosic, Marija, Williams, Misti D., Morgan, Thomas M., Pruthi, Sumit, Omary, Reed, Boyadjiev, Simeon A., Win, Kay K., Thida, Aye, Hurles, Matthew, Hibberd, Martin Lloyd, Khor, Chiea Chuen, Van Vinh Chau, Nguyen, Gallagher, Thomas E., Mutirangura, Apiwat, Stankiewicz, Pawel, Beaudet, Arthur L., Maletic-Savatic, Mirjana, Rosenfeld, Jill A., Shaffer, Lisa G., Davis, Erica E., Belmont, John W., Dunstan, Sarah, Simmons, Cameron P., Bonnen, Penelope E., Leal, Suzanne M., Katsanis, Nicholas, Lupski, James R., Lalani, Seema R.
Gepubliceerd in 2013