ZFIN ID: ZDB-PERS-050516-4
Willer, Jason
Email: j.willer@cellbio.duke.edu
URL: http://www.cellbio.duke.edu/CHDM/Jason_W..html
Affiliation:
Address: University of Louisville Department of Biochemistry Baxter II, Rm 226 580 S. Preston St. Louisville, KY 40202 USA
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ORCID ID:


BIOGRAPHY AND RESEARCH INTERESTS


PUBLICATIONS
Helm, B.M., Willer, J.R., Sadeghpour, A., Golzio, C., Crouch, E., Vergano, S.S., Katsanis, N., Davis, E.E. (2017) Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome. Human genomics. 11:16
Ta-Shma, A., Khan, T.N., Vivante, A., Willer, J.R., Matak, P., Jalas, C., Pode-Shakked, B., Salem, Y., Anikster, Y., Hildebrandt, F., Katsanis, N., Elpeleg, O., Davis, E.E. (2017) Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. American journal of human genetics. 100(4):666-675
Tan, P.L., Garrett, M.E., Willer, J.R., Campochiaro, P.A., Campochiaro, B., Zack, D.J., Ashley-Koch, A.E., Katsanis, N. (2017) Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration. Investigative ophthalmology & visual science. 58:1570-1576
Shaw, N.D., Brand, H., Kupchinsky, Z.A., Bengani, H., Plummer, L., Jones, T.I., Erdin, S., Williamson, K.A., Rainger, J., Stortchevoi, A., Samocha, K., Currall, B.B., Dunican, D.S., Collins, R.L., Willer, J.R., Lek, A., Lek, M., Nassan, M., Pereira, S., Kammin, T., Lucente, D., Silva, A., Seabra, C.M., Chiang, C., An, Y., Ansari, M., Rainger, J.K., Joss, S., Smith, J.C., Lippincott, M.F., Singh, S.S., Patel, N., Jing, J.W., Law, J.R., Ferraro, N., Verloes, A., Rauch, A., Steindl, K., Zweier, M., Scheer, I., Sato, D., Okamoto, N., Jacobsen, C., Tryggestad, J., Chernausek, S., Schimmenti, L.A., Brasseur, B., Cesaretti, C., García-Ortiz, J.E., Buitrago, T.P., Silva, O.P., Hoffman, J.D., Mühlbauer, W., Ruprecht, K.W., Loeys, B.L., Shino, M., Kaindl, A.M., Cho, C.H., Morton, C.C., Meehan, R.R., van Heyningen, V., Liao, E.C., Balasubramanian, R., Hall, J.E., Seminara, S.B., Macarthur, D., Moore, S.A., Yoshiura, K.I., Gusella, J.F., Marsh, J.A., Graham, J.M., Lin, A.E., Katsanis, N., Jones, P.L., Crowley, W.F., Davis, E.E., FitzPatrick, D.R., Talkowski, M.E. (2017) SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature Genetics. 49(2):238-248
Lindstrand, A., Frangakis, S., Carvalho, C.M., Richardson, E.B., McFadden, K.A., Willer, J.R., Pehlivan, D., Liu, P., Pediaditakis, I.L., Sabo, A., Lewis, R.A., Banin, E., Lupski, J.R., Davis, E.E., Katsanis, N. (2016) Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American journal of human genetics. 99:318-336
Chen, C.H., Merriman, A.F., Savage, J., Willer, J., Wahlig, T., Katsanis, N., Yin, V.P., Poss, K.D. (2015) Transient laminin beta 1a Induction Defines the Wound Epidermis during Zebrafish Fin Regeneration. PLoS Genetics. 11:e1005437
Gonzaga-Jauregui, C., Harel, T., Gambin, T., Kousi, M., Griffin, L.B., Francescatto, L., Ozes, B., Karaca, E., Jhangiani, S.N., Bainbridge, M.N., Lawson, K.S., Pehlivan, D., Okamoto, Y., Withers, M., Mancias, P., Slavotinek, A., Reitnauer, P.J., Goksungur, M.T., Shy, M., Crawford, T.O., Koenig, M., Willer, J., Flores, B.N., Pediaditrakis, I., Us, O., Wiszniewski, W., Parman, Y., Antonellis, A., Muzny, D.M., Baylor-Hopkins Center for Mendelian Genomics, Katsanis, N., Battaloglu, E., Boerwinkle, E., Gibbs, R.A., Lupski, J.R. (2015) Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Reports. 12(7):1169-83
Carmean, V., Yonkers, M.A., Tellez, M.B., Willer, J.R., Willer, G.B., Gregg, R.G., Geisler, R., Neuhauss, S.C., Ribera, A.B. (2015) pigk mutation underlies macho behavior and affects Rohon-Beard cell excitability. Journal of neurophysiology. 114(2):1146-57
Marjoram, L., Alvers, A., Deerhake, M.E., Bagwell, J., Mankiewicz, J., Cocchiaro, J.L., Beerman, R.W., Willer, J., Sumigray, K.D., Katsanis, N., Tobin, D.M., Rawls, J.F., Goll, M.G., Bagnat, M. (2015) Epigenetic control of intestinal barrier function and inflammation in zebrafish. Proceedings of the National Academy of Sciences of the United States of America. 112(9):2770-5
Balasubramanian, R., Choi, J.H., Francescatto, L., Willer, J., Horton, E.R., Asimacopoulos, E.P., Stankovic, K.M., Plummer, L., Buck, C.L., Quinton, R., Nebesio, T.D., Mericq, V., Merino, P.M., Meyer, B.F., Monies, D., Gusella, J.F., Al Tassan, N., Katsanis, N., Crowley, W.F. (2014) Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. Proceedings of the National Academy of Sciences of the United States of America. 111(50):17953-8
Brooks, S.S., Wall, A.L., Golzio, C., Reid, D.W., Kondyles, A., Willer, J.R., Botti, C., Nicchitta, C.V., Katsanis, N., Davis, E.E. (2014) A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans. Genetics. 198:723-33
Lindstrand, A., Davis, E.E., Carvalho, C.M., Pehlivan, D., Willer, J.R., Tsai, I.C., Ramanathan, S., Zuppan, C., Sabo, A., Muzny, D., Gibbs, R., Liu, P., Lewis, R.A., Banin, E., Lupski, J.R., Clark, R., Katsanis, N. (2014) Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome. American journal of human genetics. 94:745-54
Ryan, S., Willer, J., Marjoram, L., Bagwell, J., Mankiewicz, J., Leshchiner, I., Goessling, W., Bagnat, M., and Katsanis, N. (2013) Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish. Development (Cambridge, England). 140(21):4445-4451
Daly, C.M., Willer, J., Gregg, R., and Gross, J.M. (2013) snow white, a Zebrafish Model of Hermansky-Pudlak Syndrome Type 5. Genetics. 195(2):481-494
Golzio, C., Willer, J., Talkowski, M.E., Oh, E.C., Taniguchi, Y., Jacquemont, S., Reymond, A., Sun, M., Sawa, A., Gusella, J.F., Kamiya, A., Beckmann, J.S., and Katsanis, N. (2012) KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature. 485(7398):363-367
Sapetto-Rebow, B., McLoughlin, S.C., O'Shea, L.C., O'Leary, O., Willer, J.R., Alvarez, Y., Collery, R., O'Sullivan, J., Van Eeden, F., Hensey, C., and Kennedy, B.N. (2011) Maternal topoisomerase II alpha, not topoisomerase II beta, enables embryonic development of zebrafish top2a-/- mutants. BMC Developmental Biology. 11(1):71
Kur, E., Christa, A., Veth, K.N., Gajera, C.R., Andrade-Navarro, M.A., Zhang, J., Willer, J.R., Gregg, R.G., Abdelilah-Seyfried, S., Bachmann, S., Link, B.A., Hammes, A., and Willnow, T.E. (2011) Loss of Lrp2 in zebrafish disrupts pronephric tubular clearance but not forebrain development. Developmental dynamics : an official publication of the American Association of Anatomists. 240(6):1567-1577
Veth, K.N., Willer, J.R., Collery, R.F., Gray, M.P., Willer, G.B., Wagner, D.S., Mullins, M.C., Udvadia, A.J., Smith, R.S., John, S.W., Gregg, R.G., and Link, B.A. (2011) Mutations in Zebrafish lrp2 Result in Adult-Onset Ocular Pathogenesis That Models Myopia and Other Risk Factors for Glaucoma. PLoS Genetics. 7(2):e1001310
Haud, N., Kara, F., Diekmann, S., Henneke, M., Willer, J.R., Hillwig, M.S., Gregg, R.G., Macintosh, G.C., Gärtner, J., Alia, A., and Hurlstone, A.F. (2011) rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA. Proceedings of the National Academy of Sciences of the United States of America. 108(3):1099-1103
Song, Y., Willer, J.R., Scherer, P.C., Panzer, J.A., Kugath, A., Skordalakes, E., Gregg, R.G., Willer, G.B., and Balice-Gordon, R.J. (2010) Neural and Synaptic Defects in slytherin, a Zebrafish Model for Human Congenital Disorders of Glycosylation. PLoS One. 5(10):e13743
Lee, J., Willer, J.R., Willer, G.B., Smith, K., Gregg, R.G., and Gross, J.M. (2008) Zebrafish blowout provides genetic evidence for Patched1-mediated negative regulation of Hedgehog signaling within the proximal optic vesicle of the vertebrate eye. Developmental Biology. 319(1):10-22

NON-ZEBRAFISH PUBLICATIONS