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

Por Villanueva, Adda, Willer, Jason R., Bryois, Julien, Dermitzakis, Emmanouil T., Katsanis, Nicholas, Davis, Erica E.
Publicado em 2014

Muscle Contractions Guide Rohon–Beard Peripheral Sensory Axons

Por Paulus, Jeremiah D., Willer, Gregory B., Willer, Jason R., Gregg, Ronald G., Halloran, Mary C.
Publicado em 2009

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

Por Lee, Jiwoon, Willer, Jason R., Willer, Gregory B., Smith, Kierann, Gregg, Ronald G., Gross, Jeffrey M.
Publicado em 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

Por Pearring, Jillian N., Martínez-Márquez, Jorge, Willer, Jason R., Lieu, Eric C., Salinas, Raquel Y., Arshavsky, Vadim Y.
Publicado no J Neurosci (2021)

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 no Hum Genomics (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 no Invest Ophthalmol Vis Sci (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 em 2010

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

Por 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.
Publicado em 2014

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

Por 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.
Publicado em 2011

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

Por 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.
Publicado no 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

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 no Hum Genomics (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 em 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 em 2011

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

Por 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.
Publicado em 2011

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

Por 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
Publicado em 2014

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

Por 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
Publicado no Am J Hum Genet (2016)

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

Por 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
Publicado no 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

Por 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.
Publicado em 2011

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 no Nat Commun (2016)

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

Por 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.
Publicado em 2013