Elias Nicholas Katsanis

  • 23518 Citations
19952020

Research output per year

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Research Output

2012

Endoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cells

Tian, H., Mythreye, K., Golzio, C., Katsanis, E. N. & Blobe, G. C., Oct 3 2012, In : EMBO Journal. 31, 19, p. 3885-3900 16 p.

Research output: Contribution to journalArticle

55 Scopus citations

Endoglin regulates PI3-kinase/Akt trafficking and signaling to alter endothelial capillary stability during angiogenesis

Lee, N. Y., Golzio, C., Gatza, C. E., Sharma, A., Katsanis, E. N. & Blobe, G. C., Jul 1 2012, In : Molecular biology of the cell. 23, 13, p. 2412-2423 12 p.

Research output: Contribution to journalArticle

Open Access
28 Scopus citations

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

Lee, J. H., Silhavy, J. L., Lee, J. E., Al-Gazali, L., Thomas, S., Davis, E. E., Bielas, S. L., Hill, K. J., Iannicelli, M., Brancati, F., Gabriel, S. B., Russ, C., Logan, C. V., Sharif, S. M., Bennett, C. P., Abe, M., Hildebrandt, F., Diplas, B. H., Attié-Bitach, T., Katsanis, E. N. & 10 others, Rajab, A., Koul, R., Sztriha, L., Waters, E. R., Ferro-Novick, S., Woods, C. G., Johnson, C. A., Valente, E. M., Zaki, M. S. & Gleeson, J. G., Feb 24 2012, In : Science. 335, 6071, p. 966-969 4 p.

Research output: Contribution to journalArticle

47 Scopus citations

Exome and genome sequencing of neonates with neurodevelopmental disorders

Katsanis, E. N., Cotten, M. & Angrist, M., Nov 1 2012, In : Future Neurology. 7, 6, p. 655-658 4 p.

Research output: Contribution to journalReview article

3 Scopus citations

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

Chaki, M., Airik, R., Ghosh, A. K., Giles, R. H., Chen, R., Slaats, G. G., Wang, H., Hurd, T. W., Zhou, W., Cluckey, A., Gee, H. Y., Ramaswami, G., Hong, C. J., Hamilton, B. A., Červenka, I., Ganji, R. S., Bryja, V., Arts, H. H., Van Reeuwijk, J., Oud, M. M. & 53 others, Letteboer, S. J. F., Roepman, R., Husson, H., Ibraghimov-Beskrovnaya, O., Yasunaga, T., Walz, G., Eley, L., Sayer, J. A., Schermer, B., Liebau, M. C., Benzing, T., Le Corre, S., Drummond, I., Janssen, S., Allen, S. J., Natarajan, S., O'Toole, J. F., Attanasio, M., Saunier, S., Antignac, C., Koenekoop, R. K., Ren, H., Lopez, I., Nayir, A., Stoetzel, C., Dollfus, H., Massoudi, R., Gleeson, J. G., Andreoli, S. P., Doherty, D. G., Lindstrad, A., Golzio, C., Katsanis, E. N., Pape, L., Abboud, E. B., Al-Rajhi, A. A., Lewis, R. A., Omran, H., Lee, E. Y. H. P., Wang, S., Sekiguchi, J. M., Saunders, R., Johnson, C. A., Garner, E., Vanselow, K., Andersen, J. S., Shlomai, J., Nurnberg, G., Nurnberg, P., Levy, S., Smogorzewska, A., Otto, E. A. & Hildebrandt, F., Aug 3 2012, In : Cell. 150, 3, p. 533-548 16 p.

Research output: Contribution to journalArticle

Open Access
206 Scopus citations

Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes

Han, K. E., Choi, S. I., Chung, W. S., Jung, S. H., Katsanis, E. N., Kim, T. I. & Kim, E. K., Jul 31 2012, In : Molecular vision. 18, p. 1755-1762 8 p.

Research output: Contribution to journalArticle

10 Scopus citations

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model

McIntyre, J. C., Davis, E. E., Joiner, A., Williams, C. L., Tsai, I. C., Jenkins, P. M., McEwen, D. P., Zhang, L., Escobado, J., Thomas, S., Szymanska, K., Johnson, C. A., Beales, P. L., Green, E. D., Mullikin, J. C., Sabo, A., Muzny, D. M., Gibbs, R. A., Attié-Bitach, T., Yoder, B. K. & 3 others, Reed, R. R., Katsanis, E. N. & Martens, J. R., Sep 1 2012, In : Nature Medicine. 18, 9, p. 1423-1428 6 p.

Research output: Contribution to journalArticle

60 Scopus citations

Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes

Sobrin, L., Ripke, S., Yu, Y., Fagerness, J., Bhangale, T. R., Tan, P. L., Souied, E. H., Buitendijk, G. H. S., Merriam, J. E., Richardson, A. J., Raychaudhuri, S., Reynolds, R., Chin, K. A., Lee, A. Y., Leveziel, N., Zack, D. J., Campochiaro, P., Smith, R. T., Barile, G. R., Hogg, R. E. & 14 others, Chakravarthy, U., Behrens, T. W., Uitterlinden, A. G., Van Duijn, C. M., Vingerling, J. R., Brantley, M. A., Baird, P. N., Klaver, C. C. W., Allikmets, R., Katsanis, E. N., Graham, R. R., Ioannidis, J. P. A., Daly, M. J. & Seddon, J. M., Sep 1 2012, In : Ophthalmology. 119, 9, p. 1874-1885 12 p.

Research output: Contribution to journalArticle

53 Scopus citations

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

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. & Katsanis, E. N., May 17 2012, In : Nature. 485, 7398, p. 363-367 5 p.

Research output: Contribution to journalArticle

223 Scopus citations

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Sarparanta, J., Jonson, P. H., Golzio, C., Sandell, S., Luque, H., Screen, M., McDonald, K., Stajich, J. M., Mahjneh, I., Vihola, A., Raheem, O., Penttilä, S., Lehtinen, S., Huovinen, S., Palmio, J., Tasca, G., Ricci, E., Hackman, P., Hauser, M., Katsanis, E. N. & 1 others, Udd, B., Apr 1 2012, In : Nature Genetics. 44, 4, p. 450-455 6 p.

Research output: Contribution to journalArticle

140 Scopus citations

Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy

Riazuddin, S. A., Parker, D. S., McGlumphy, E. J., Oh, E. C., Iliff, B. W., Schmedt, T., Jurkunas, U., Schleif, R., Katsanis, E. N. & Gottsch, J. D., Mar 9 2012, In : American journal of human genetics. 90, 3, p. 533-539 7 p.

Research output: Contribution to journalArticle

Open Access
97 Scopus citations

OTX2 mutations contribute to the otocephaly-dysgnathia complex

Chassaing, N., Sorrentino, S., Davis, E. E., Martin-Coignard, D., Iacovelli, A., Paznekas, W., Webb, B. D., Faye-Petersen, O., Encha-Razavi, F., Lequeux, L., Vigouroux, A., Yesilyurt, A., Boyadjiev, S. A., Kayserili, H., Loget, P., Carles, D., Sergi, C., Puvabanditsin, S., Chen, C. P., Etchevers, H. C. & 4 others, Katsanis, E. N., Mercer, C. L., Calvas, P. & Jabs, E. W., Jun 2012, In : Journal of medical genetics. 49, 6, p. 373-379 7 p.

Research output: Contribution to journalArticle

37 Scopus citations

Prevalence and severity of fuchs corneal dystrophy in tangier island

Eghrari, A. O., McGlumphy, E. J., Iliff, B. W., Wang, J., Emmert, D., Riazuddin, S. A., Katsanis, E. N. & Gottsch, J. D., Jun 1 2012, In : American journal of ophthalmology. 153, 6, p. 1067-1072 6 p.

Research output: Contribution to journalArticle

23 Scopus citations

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

Schuurs-Hoeijmakers, J. H. M., Oh, E. C., Vissers, L. E. L. M., Swinkels, M. E. M., Gilissen, C., Willemsen, M. A., Holvoet, M., Steehouwer, M., Veltman, J. A., De Vries, B. B. A., Van Bokhoven, H., De Brouwer, A. P. M., Katsanis, E. N., Devriendt, K. & Brunner, H. G., Dec 7 2012, In : American Journal of Human Genetics. 91, 6, p. 1122-1127 6 p.

Research output: Contribution to journalArticle

Open Access
43 Scopus citations

The ciliopathies: A transitional model into systems biology of human genetic disease

Davis, E. E. & Katsanis, E. N., Jun 1 2012, In : Current Opinion in Genetics and Development. 22, 3, p. 290-303 14 p.

Research output: Contribution to journalReview article

100 Scopus citations
2011

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration

Raychaudhuri, S., Iartchouk, O., Chin, K., Tan, P. L., Tai, A. K., Ripke, S., Gowrisankar, S., Vemuri, S., Montgomery, K., Yu, Y., Reynolds, R., Zack, D. J., Campochiaro, B., Campochiaro, P., Katsanis, E. N., Daly, M. J. & Seddon, J. M., Dec 1 2011, In : Nature Genetics. 43, 12, p. 1232-1236 5 p.

Research output: Contribution to journalArticle

201 Scopus citations

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome

Pereiro, I., Hoskins, B. E., Marshall, J. D., Collin, G. B., Naggert, J. K., Pĩeiro-Gallego, T., Oitmaa, E., Katsanis, E. N., Valverde, D. & Beales, P. L., Apr 1 2011, In : European Journal of Human Genetics. 19, 4, p. 485-488 4 p.

Research output: Contribution to journalArticle

32 Scopus citations

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

Garcia-Gonzalo, F. R., Corbit, K. C., Sirerol-Piquer, M. S., Ramaswami, G., Otto, E. A., Noriega, T. R., Seol, A. D., Robinson, J. F., Bennett, C. L., Josifova, D. J., García-Verdugo, J. M., Katsanis, E. N., Hildebrandt, F. & Reiter, J. F., Aug 2011, In : Nature Genetics. 43, 8, p. 776-784 9 p.

Research output: Contribution to journalArticle

355 Scopus citations

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

Merveille, A. C., Davis, E. E., Becker-Heck, A., Legendre, M., Amirav, I., Bataille, G., Belmont, J., Beydon, N., Billen, F., Clément, A., Clercx, C., Coste, A., Crosbie, R., De Blic, J., Deleuze, S., Duquesnoy, P., Escalier, D., Escudier, E., Fliegauf, M., Horvath, J. & 24 others, Hill, K., Jorissen, M., Just, J., Kispert, A., Lathrop, M., Loges, N. T., Marthin, J. K., Momozawa, Y., Montantin, G., Nielsen, K. G., Olbrich, H., Papon, J. F., Rayet, I., Roger, G., Schmidts, M., Tenreiro, H., Towbin, J. A., Zelenika, D., Zentgraf, H., Georges, M., Lequarré, A. S., Katsanis, E. N., Omran, H. & Amselem, S., Jan 1 2011, In : Nature Genetics. 43, 1, p. 72-78 7 p.

Research output: Contribution to journalArticle

191 Scopus citations

Ciliopathies

Hildebrandt, F., Benzing, T. & Katsanis, E. N., Apr 21 2011, In : New England Journal of Medicine. 364, 16, p. 1533-1543 11 p.

Research output: Contribution to journalReview article

757 Scopus citations

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

Yu, Y., Bhangale, T. R., Fagerness, J., Ripke, S., Thorleifsson, G., Tan, P. L., Souied, E. H., Richardson, A. J., Merriam, J. E., Buitendijk, G. H. S., Reynolds, R., Raychaudhuri, S., Chin, K. A., Sobrin, L., Evangelou, E., Lee, P. H., Lee, A. Y., Leveziel, N., Zack, D. J., Campochiaro, B. & 25 others, Campochiaro, P., Smith, R. T., Barile, G. R., Guymer, R. H., Hogg, R., Chakravarthy, U., Robman, L. D., Gustafsson, O., Sigurdsson, H., Ortmann, W., Behrens, T. W., Stefansson, K., Uitterlinden, A. G., van Duijn, C. M., Vingerling, J. R., Klaver, C. C. W., Allikmets, R., Brantley, M. A., Baird, P. N., Katsanis, E. N., Thorsteinsdottir, U., Ioannidis, J. P. A., Daly, M. J., Graham, R. R. & Seddon, J. M., Sep 2011, In : Human molecular genetics. 20, 18, p. 3699-3709 11 p., ddr270.

Research output: Contribution to journalArticle

Open Access
174 Scopus citations

Cystic diseases of the kidney: Ciliary dysfunction and cystogenic mechanisms

Gascue, C., Katsanis, E. N. & Badano, J. L., Aug 1 2011, In : Pediatric Nephrology. 26, 8, p. 1181-1195 15 p.

Research output: Contribution to journalReview article

33 Scopus citations

DISC1-dependent switch from progenitor proliferation to migration in the developing cortex

Ishizuka, K., Kamiya, A., Oh, E. C., Kanki, H., Seshadri, S., Robinson, J. F., Murdoch, H., Dunlop, A. J., Kubo, K. I., Furukori, K., Huang, B., Zeledon, M., Hayashi-Takagi, A., Okano, H., Nakajima, K., Houslay, M. D., Katsanis, E. N. & Sawa, A., May 5 2011, In : Nature. 473, 7345, p. 92-96 5 p.

Research output: Contribution to journalArticle

151 Scopus citations

Disruption of a ciliary B9 protein complex causes meckel syndrome

Dowdle, W. E., Robinson, J. F., Andreas Kneist, K., Sirerol-Piquer, M. S., Frints, S. G. M., Corbit, K. C., Zaghloul, N. A., Van Lijnschoten, G., Mulders, L., Verver, D. E., Zerres, K., Reed, R. R., Attié-Bitach, T., Johnson, C. A., García-Verdugo, J. M., Katsanis, E. N., Bergmann, C. & Reiter, J. F., Jul 15 2011, In : American journal of human genetics. 89, 1, p. 94-110 17 p.

Research output: Contribution to journalArticle

Open Access
91 Scopus citations

Ectopic overexpression of Sonic Hedgehog (Shh) induces stromal expansion and metaplasia in the adult murine pancreas

Fendrich, V., Oh, E., Bang, S., Karikari, C., Ottenhof, N., Bisht, S., Lauth, M., Brossart, P., Katsanis, E. N., Maitra, A. & Feldmann, G., Oct 2011, In : Neoplasia. 13, 10, p. 923-930 8 p.

Research output: Contribution to journalArticle

Open Access
25 Scopus citations

Erratum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum (Nat. Genet. (2011) 43 (189-196)

Davis, E. E., Zhang, Q., Liu, Q., Diplas, B. H., Davey, L. M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., Logan, C. V., Muzny, D. M., Young, A. C., Wheeler, D. A., Cruz, P., Morgan, M., Lewis, L. R., Cherukuri, P., Maskeri, B., Hansen, N. F., Mullikin, J. C. & 28 others, Blakesley, R. W., Bouffard, G. G., Nisc Comparative Sequencing Program, C. S. P., Gyapay, G., Rieger, S., Tönshoff, B., Kern, I., Soliman, N. A., Neuhaus, T. J., Swoboda, K. J., Kayserili, H., Gallagher, T. E., Lewis, R. A., Bergmann, C., Otto, E. A., Saunier, S., Scambler, P. J., Beales, P. L., Gleeson, J. G., Maher, E. R., Attié-Bitach, T., Dollfus, H., Johnson, C. A., Green, E. D., Gibbs, R. A., Hildebrandt, F., Pierce, E. A. & Katsanis, E. N., May 1 2011, In : Nature Genetics. 43, 5, 1 p.

Research output: Contribution to journalComment/debate

Open Access

Erratum: Disruption of a ciliary B9 protein complex causes meckel syndrome ((The American Journal of Human Genetics (July 2011) 89 (94-110))

Dowdle, W. E., Robinson, J. F., Kneist, A., Sirerol-Piquer, M. S., Frints, S. G. M., Corbit, K. C., Zaghloul, N. A., Van Lijnschoten, G., Mulders, L., Verver, D. E., Zerres, K., Reed, R. R., Attié-Bitach, T., Johnson, C. A., García-Verdugo, J. M., Katsanis, E. N., Bergmann, C. & Reiter, J. F., Oct 7 2011, In : American Journal of Human Genetics. 89, 4, 1 p.

Research output: Contribution to journalComment/debate

Open Access

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Putoux, A., Thomas, S., Coene, K. L. M., Davis, E. E., Alanay, Y., Ogur, G., Uz, E., Buzas, D., Gomes, C., Patrier, S., Bennett, C. L., Elkhartoufi, N., Frison, M. H. S., Rigonnot, L., Joyé, N., Pruvost, S., Utine, G. E., Boduroglu, K., Nitschke, P., Fertitta, L. & 19 others, Thauvin-Robinet, C., Munnich, A., Cormier-Daire, V., Hennekam, R., Colin, E., Akarsu, N. A., Bole-Feysot, C., Cagnard, N., Schmitt, A., Goudin, N., Lyonnet, S., Encha-Razavi, F., Siffroi, J. P., Winey, M., Katsanis, E. N., Gonzales, M., Vekemans, M., Beales, P. L. & Attié-Bitach, T., Jun 2011, In : Nature Genetics. 43, 6, p. 601-606 6 p.

Research output: Contribution to journalArticle

135 Scopus citations

Loss of Bardet - Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting

Tadenev, A. L. D., Kulaga, H. M., May-Simera, H. L., Kelley, M. W., Katsanis, E. N. & Reed, R. R., Jun 21 2011, In : Proceedings of the National Academy of Sciences of the United States of America. 108, 25, p. 10320-10325 6 p.

Research output: Contribution to journalArticle

Open Access
58 Scopus citations

Molecular analysis of Bardet-Biedl syndrome families: Report of 21 novel mutations in 10 genes

Chen, J., Smaoui, N., Hammer, M. B. H., Jiao, X., Amer Riazuddin, S., Harper, S., Katsanis, E. N., Riazuddin, S., Chaabouni, H., Berson, E. L. & Fielding Hejtmancik, J., Jul 2011, In : Investigative Ophthalmology and Visual Science. 52, 8, p. 5317-5324 8 p.

Research output: Contribution to journalArticle

Open Access
33 Scopus citations

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

Janssen, S., Ramaswami, G., Davis, E. E., Hurd, T., Airik, R., Kasanuki, J. M., Van Der Kraak, L., Allen, S. J., Beales, P. L., Katsanis, E. N., Otto, E. A. & Hildebrandt, F., Jan 2011, In : Human Genetics. 129, 1, p. 79-90 12 p.

Research output: Contribution to journalArticle

61 Scopus citations

Mutations in SDCCAG8/NPHP10 cause bardet-biedl syndrome and are associated with penetrant renal disease and absent polydactyly

Schaefer, E., Zaloszyc, A., Lauer, J., Durand, M., Stutzmann, F., Perdomo-Trujillo, Y., Redin, C., Bennouna Greene, V., Toutain, A., Perrin, L., Gérard, M., Caillard, S., Bei, X., Lewis, R. A., Christmann, D., Letsch, J., Kribs, M., Mutter, C., Muller, J., Stoetzel, C. & 4 others, Fischbach, M., Marion, V., Katsanis, E. N. & Dollfus, H., Sep 1 2011, In : Molecular Syndromology. 1, 6, p. 273-281 9 p.

Research output: Contribution to journalArticle

Open Access
56 Scopus citations

Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry

Kim, S., Zaghloul, N. A., Bubenshchikova, E., Oh, E. C., Rankin, S., Katsanis, E. N., Obara, T. & Tsiokas, L., Apr 1 2011, In : Nature Cell Biology. 13, 4, p. 351-362 12 p.

Research output: Contribution to journalArticle

142 Scopus citations

Neuroscience: Imprinting in the brain

Oh, E. C. & Katsanis, E. N., Jul 21 2011, In : Nature. 475, 7356, p. 299-300 2 p.

Research output: Contribution to journalArticle

Replication of tcf4 through association and linkage studies in late-onset fuchs endothelial corneal dystrophy

Li, Y. J., Minear, M. A., Rimmler, J., Zhao, B., Balajonda, E., Hauser, M. A., Allingham, R. R., Eghrari, A. O., Riazuddin, S. A., Katsanis, E. N., Gottsch, J. D., Gregory, S. G., Klintworth, G. K. & Afshari, N. A., May 2 2011, In : PloS one. 6, 4, e18044.

Research output: Contribution to journalArticle

Open Access
54 Scopus citations

Replication of the TCF4 Intronic variant in Late-onset fuchs corneal dystrophy and evidence of independence from the FCD2 locus

Riazuddin, S. A., McGlumphy, E. J., Yeo, W. S., Wang, J., Katsanis, E. N. & Gottsch, J. D., Apr 1 2011, In : Investigative Ophthalmology and Visual Science. 52, 5, p. 2825-2829 5 p.

Research output: Contribution to journalArticle

Open Access
50 Scopus citations

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

Huang, L., Szymanska, K., Jensen, V. L., Janecke, A. R., Innes, A. M., Davis, E. E., Frosk, P., Li, C., Willer, J. R., Chodirker, B. N., Greenberg, C. R., McLeod, D. R., Bernier, F. P., Chudley, A. E., Müller, T., Shboul, M., Logan, C. V., Loucks, C. M., Beaulieu, C. L., Bowie, R. V. & 23 others, Bell, S. M., Adkins, J., Zuniga, F. I., Ross, K. D., Wang, J., Ban, M. R., Becker, C., Nürnberg, P., Douglas, S., Craft, C. M., Akimenko, M. A., Hegele, R. A., Ober, C., Utermann, G., Bolz, H. J., Bulman, D. E., Katsanis, E. N., Blacque, O. E., Doherty, D., Parboosingh, J. S., Leroux, M. R., Johnson, C. A. & Boycott, K. M., Dec 9 2011, In : American journal of human genetics. 89, 6, p. 713-730 18 p.

Research output: Contribution to journalArticle

Open Access
118 Scopus citations

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Davis, E. E., Zhang, Q., Liu, Q., Diplas, B. H., Davey, L. M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., Logan, C. V., Muzny, D. M., Young, A. C., Wheeler, D. A., Cruz, P., Morgan, M., Lewis, L. R., Cherukuri, P., Maskeri, B., Hansen, N. F., Mullikin, J. C. & 27 others, Blakesley, R. W., Bouffard, G. G., Gyapay, G., Rieger, S., Tönshoff, B., Kern, I., Soliman, N. A., Neuhaus, T. J., Swoboda, K. J., Kayserili, H., Gallagher, T. E., Lewis, R. A., Bergmann, C., Otto, E. A., Saunier, S., Scambler, P. J., Beales, P. L., Gleeson, J. G., Maher, E. R., Attié-Bitach, T., Dollfus, H., Johnson, C. A., Green, E. D., Gibbs, R. A., Hildebrandt, F., Pierce, E. A. & Katsanis, E. N., Mar 1 2011, In : Nature Genetics. 43, 3, p. 189-196 8 p.

Research output: Contribution to journalArticle

221 Scopus citations

Understanding cargo specificity in intraflagellar transport

Parker, D. S. & Katsanis, E. N., Jul 6 2011, In : EMBO Journal. 30, 13, p. 2518-2519 2 p.

Research output: Contribution to journalArticle

3 Scopus citations

Zebrafish Assays of Ciliopathies

Zaghloul, N. A. & Katsanis, E. N., 2011, Methods in Cell Biology. Academic Press Inc, p. 257-272 16 p. (Methods in Cell Biology; vol. 105).

Research output: Chapter in Book/Report/Conference proceedingChapter

17 Scopus citations
2010

Age-severity relationships in families linked to FCD2 with retroillumination photography

McGlumphy, E. J., Yeo, W. S., Riazuddin, S. A., Al-Saif, A., Wang, J., Eghrari, A. O., Meadows, D. N., Emmert, D. G., Katsanis, E. N. & Gottsch, J. D., Dec 1 2010, In : Investigative Ophthalmology and Visual Science. 51, 12, p. 6298-6302 5 p.

Research output: Contribution to journalArticle

Open Access
9 Scopus citations

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness

Riazuddin, S. A., Shahzadi, A., Zeitz, C., Ahmed, Z. M., Ayyagari, R., Chavali, V. R. M., Ponferrada, V. G., Audo, I., Michiels, C., Lancelot, M. E., Nasir, I. A., Zafar, A. U., Khan, S. N., Husnain, T., Jiao, X., MacDonald, I. M., Riazuddin, S., Sieving, P. A., Katsanis, E. N. & Hejtmancik, J. F., Oct 8 2010, In : American journal of human genetics. 87, 4, p. 523-531 9 p.

Research output: Contribution to journalArticle

Open Access
44 Scopus citations

A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa

Riazuddin, S. A., Iqbal, M., Wang, Y., Masuda, T., Chen, Y., Bowne, S., Sullivan, L. S., Waseem, N. H., Bhattacharya, S., Daiger, S. P., Zhang, K., Khan, S. N., Riazuddin, S., Hejtmancik, J. F., Sieving, P. A., Zack, D. J. & Katsanis, E. N., May 14 2010, In : American Journal of Human Genetics. 86, 5, p. 805-812 8 p.

Research output: Contribution to journalArticle

Open Access
70 Scopus citations

Association of whirlin with Cav1.3 (α1D) channels in photoreceptors, defining a novel member of the usher protein network

Kersten, F. F. J., van Wijk, E., van Reeuwijk, J., van der Zwaag, B., Märker, T., Peters, T. A., Katsanis, E. N., Wolfrum, U., Keunen, J. E. E., Roepman, R. & Kremer, H., May 1 2010, In : Investigative Ophthalmology and Visual Science. 51, 5, p. 2338-2346 9 p.

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Open Access
38 Scopus citations

Bardet-biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling

Wiens, C. J., Tong, Y., Esmail, M. A., Oh, E., Gerdes, J. M., Wang, J., Tempel, W., Rattner, J. B., Katsanis, E. N., Park, H. W. & Leroux, M. R., May 21 2010, In : Journal of Biological Chemistry. 285, 21, p. 16218-16230 13 p.

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Open Access
73 Scopus citations

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Otto, E. A., Hurd, T. W., Airik, R., Chaki, M., Zhou, W., Stoetzel, C., Patil, S. B., Levy, S., Ghosh, A. K., Murga-Zamalloa, C. A., Van Reeuwijk, J., Letteboer, S. J. F., Sang, L., Giles, R. H., Liu, Q., Coene, K. L. M., Estrada-Cuzcano, A., Collin, R. W. J., McLaughlin, H. M., Held, S. & 35 others, Kasanuki, J. M., Ramaswami, G., Conte, J., Lopez, I., Washburn, J., MacDonald, J., Hu, J., Yamashita, Y., Maher, E. R., Guay-Woodford, L. M., Neumann, H. P. H., Obermüller, N., Koenekoop, R. K., Bergmann, C., Bei, X., Lewis, R. A., Katsanis, E. N., Lopes, V., Williams, D. S., Lyons, R. H., Dang, C. V., Brito, D. A., Dias, M. B., Zhang, X., Cavalcoli, J. D., Nürnberg, G., Nürnberg, P., Pierce, E. A., Jackson, P. K., Antignac, C., Saunier, S., Roepman, R., Dollfus, H., Khanna, H. & Hildebrandt, F., Oct 2010, In : Nature Genetics. 42, 10, p. 840-850 11 p.

Research output: Contribution to journalArticle

213 Scopus citations

Erratum: Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Journal of Clinical Investigation (2010) 120, 3 (791-802) DOI: 10.1172/JCI40076)

O'Toole, J. F., Liu, Y., Davis, E. E., Westlake, C. J., Attanasio, M., Otto, E. A., Seelow, D., Nurnberg, G., Becker, C., Nuutinen, M., Kärppä, M., Ignatius, J., Uusimaa, J., Pakanen, S., Jaakkola, E., Van Den Heuvel, L. P., Fehrenbach, H., Wiggins, R., Zhou, W., Wolf, M. T. F. & 34 others, Wise, E., Helou, J., Allen, S. J., Murga-Zamalloa, C. A., Ashraf, S., Chaki, M., Heeringa, S., Chernin, G., Hoskins, B. E., Chaib, H., Gleeson, J., Kusakabe, T., Suzuki, T., Isaac, R. E., Quarmby, L. M., Tennant, B., Fujioka, H., Tuominen, H., Hassinen, I., Lohi, H., Van Houten, J. L., Rotig, A., Sayer, J. A., Rolinski, B., Freisinger, P., Madhavan, S. M., Herzer, M., Madignier, F., Prokisch, H., Nurnberg, P., Jackson, P. K., Khanna, H., Katsanis, E. N. & Hildebrandt, F., Apr 1 2010, In : Journal of Clinical Investigation. 120, 4, 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

Zaghloul, N. A., Liu, Y., Gerdes, J. M., Gascue, C., Oh, E. C., Leitch, C. C., Bromberg, Y., Binkley, J., Leibel, R. L., Sidow, A., Badano, J. L. & Katsanis, N., Jun 8 2010, In : Proceedings of the National Academy of Sciences of the United States of America. 107, 23, p. 10602-10607 6 p.

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85 Scopus citations

Functional modules, mutational load and human genetic disease

Zaghloul, N. A. & Katsanis, E. N., Apr 2010, In : Trends in Genetics. 26, 4, p. 168-176 9 p.

Research output: Contribution to journalReview article

77 Scopus citations

Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration

Yang, Z., Tong, Z., Chen, Y., Zeng, J., Lu, F., Sun, X., Zhao, C., Wang, K., Davey, L., Chen, H., London, N., Muramatsu, D., Salasar, F., Carmona, R., Kasuga, D., Wang, X., Bedell, M., Dixie, M., Zhao, P., Yang, R. & 13 others, Gibbs, D., Liu, X., Li, Y., Li, C., Li, Y., Campochiaro, B., Constantine, R., Zack, D. J., Campochiaro, P., Fu, Y., Li, D. Y., Katsanis, E. N. & Zhang, K., Feb 2010, In : PLoS genetics. 6, 2, e1000836.

Research output: Contribution to journalArticle

Open Access
75 Scopus citations