Elias Nicholas Katsanis

  • 23518 Citations
19952020

Research output per year

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Research Output

2010

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

Chen, W., Stambolian, D., Edwards, A. O., Branham, K. E., Othman, M., Jakobsdottir, J., Tosakulwong, N., Pericak-Vance, M. A., Campochiaro, P. A., Klein, M. L., Tan, P. L., Conley, Y. P., Kanda, A., Kopplin, L., Li, Y., Augustaitis, K. J., Karoukis, A. J., Scott, W. K., Agarwal, A., Kovach, J. L. & 46 others, Schwartz, S. G., Postel, E. A., Brooks, M., Baratz, K. H., Brown, W. L., Brucker, A. J., Orlin, A., Brown, G., Ho, A., Regillo, C., Donoso, L., Tian, L., Kaderli, B., Hadley, D., Hagstrom, S. A., Peachey, N. S., Klein, R., Klein, B. E. K., Gotoh, N., Yamashiro, K., Ferris, F., Fagerness, J. A., Reynolds, R., Farrer, L. A., Kim, I. K., Miller, J. W., Cortón, M., Carracedo, A., Sanchez-Salorio, M., Pugh, E. W., Doheny, K. F., Brion, M., DeAngelis, M. M., Weeks, D. E., Zack, D. J., Chew, E. Y., Heckenlively, J. R., Yoshimura, N., Iyengar, S. K., Francis, P. J., Katsanis, E. N., Seddon, J. M., Haines, J. L., Gorin, M. B., Abecasis, G. R. & Swaroop, A., Apr 20 2010, In : Proceedings of the National Academy of Sciences of the United States of America. 107, 16, p. 7401-7406 6 p.

Research output: Contribution to journalArticle

Open Access
372 Scopus citations

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)

Neale, B. M., Fagerness, J., Reynolds, R., Sobrin, L., Parker, M., Raychaudhuri, S., Tan, P. L., Oh, E. C., Merriam, J. E., Souied, E., Bernstein, P. S., Li, B., Frederick, J. M., Zhang, K., Brantley, M. A., Lee, A. Y., Zack, D. J., Campochiaro, B., Campochiaro, P., Ripke, S. & 6 others, Smith, R. T., Barile, G. R., Katsanis, N., Allikmets, R., Daly, M. J. & Seddon, J. M., Apr 20 2010, In : Proceedings of the National Academy of Sciences of the United States of America. 107, 16, p. 7395-7400 6 p.

Research output: Contribution to journalArticle

Open Access
301 Scopus citations

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

Harville, H. M., Held, S., Diaz-Font, A., Davis, E. E., Diplas, B. H., Lewis, R. A., Borochowitz, Z. U., Zhou, W., Chaki, M., MacDonald, J., Kayserili, H., Beales, P. L., Katsanis, E. N., Otto, E. & Hildebrandt, F., Apr 1 2010, In : Journal of medical genetics. 47, 4, p. 262-267 6 p.

Research output: Contribution to journalArticle

47 Scopus citations

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: The burden of private mutations in an extensively heterogeneous disease

Muller, J., Stoetzel, C., Vincent, M. C., Leitch, C. C., Laurier, V., Danse, J. M., Hellé, S., Marion, V., Bennouna-Greene, V., Vicaire, S., Megarbane, A., Kaplan, J., Drouin-Garraud, V., Hamdani, M., Sigaudy, S., Francannet, C., Roume, J., Bitoun, P., Goldenberg, A., Philip, N. & 10 others, Odent, S., Green, J., Cossée, M., Davis, E. E., Katsanis, E. N., Bonneau, D., Verloes, A., Poch, O., Mandel, J. L. & Dollfus, H., May 1 2010, In : Human Genetics. 127, 5, p. 583-593 11 p.

Research output: Contribution to journalArticle

74 Scopus citations

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

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., Goyal, M., Zhou, W. & 35 others, Wolf, M. T. F., 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., Khanna, H., Katsanis, E. N. & Hildebrandt, F., Mar 1 2010, In : Journal of Clinical Investigation. 120, 3, p. 791-802 12 p.

Research output: Contribution to journalArticle

Open Access
65 Scopus citations

Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p

Riazuddin, S. A., Zaghloul, N. A., Al-Saif, A., Davey, L., Diplas, B. H., Meadows, D. N., Eghrari, A. O., Minear, M. A., Li, Y. J., Klintworth, G. K., Afshari, N., Gregory, S. G., Gottsch, J. D. & Katsanis, E. N., Jan 6 2010, In : American journal of human genetics. 86, 1, p. 45-53 9 p.

Research output: Contribution to journalArticle

Open Access
126 Scopus citations

Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophya

Riazuddin, S. A., Vithana, E. N., Seet, L. F., Liu, Y., Al-Saif, A., Koh, L. W., Heng, Y. M., Aung, T., Meadows, D. N., Eghrari, A. O., Gottsch, J. D. & Katsanis, E. N., Nov 1 2010, In : Human mutation. 31, 11, p. 1261-1268 8 p.

Research output: Contribution to journalArticle

87 Scopus citations

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Valente, E. M., Logan, C. V., Mougou-Zerelli, S., Lee, J. H., Silhavy, J. L., Brancati, F., Iannicelli, M., Travaglini, L., Romani, S., Illi, B., Adams, M., Szymanska, K., Mazzotta, A., Lee, J. E., Tolentino, J. C., Swistun, D., Salpietro, C. D., Fede, C., Gabriel, S., Russ, C. & 31 others, Cibulskis, K., Sougnez, C., Hildebrandt, F., Otto, E. A., Held, S., Diplas, B. H., Davis, E. E., Mikula, M., Strom, C. M., Ben-Zeev, B., Lev, D., Sagie, T. L., Michelson, M., Yaron, Y., Krause, A., Boltshauser, E., Elkhartoufi, N., Roume, J., Shalev, S., Munnich, A., Saunier, S., Inglehearn, C., Saad, A., Alkindy, A., Thomas, S., Vekemans, M., Dallapiccola, B., Katsanis, E. N., Johnson, C. A., Attié-Bitach, T. & Gleeson, J. G., Jul 1 2010, In : Nature Genetics. 42, 7, p. 619-625 7 p.

Research output: Contribution to journalArticle

175 Scopus citations

Oligogenic disease

Robinson, J. F. & Katsanis, E. N., Jan 1 2010, Vogel and Motulsky's Human Genetics: Problems and Approaches (Fourth Edition). Springer-Verlag Berlin Heidelberg, p. 243-262 20 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

7 Scopus citations

Pitchfork Regulates Primary Cilia Disassembly and Left-Right Asymmetry

Kinzel, D., Boldt, K., Davis, E. E., Burtscher, I., Trümbach, D., Diplas, B., Attié-Bitach, T., Wurst, W., Katsanis, E. N., Ueffing, M. & Lickert, H., Jul 1 2010, In : Developmental Cell. 19, 1, p. 66-77 12 p.

Research output: Contribution to journalArticle

Open Access
76 Scopus citations

Planar cell polarity acts through septins to control collective cell movement and ciliogenesis

Kim, S. K., Shindo, A., Park, T. J., Oh, E. C., Ghosh, S., Gray, R. S., Lewis, R. A., Johnson, C. A., Attie-Bittach, T., Katsanis, E. N. & Wallingford, J. B., Sep 10 2010, In : Science. 329, 5997, p. 1337-1340 4 p.

Research output: Contribution to journalArticle

235 Scopus citations
2009

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Khanna, H., Davis, E. E., Murga-Zamalloa, C. A., Estrada-Cuzcano, A., Lopez, I., Den Hollander, A. I., Zonneveld, M. N., Othman, M. I., Waseem, N., Chakarova, C. F., Maubaret, C., Diaz-Font, A., MacDonald, I., Muzny, D. M., Wheeler, D. A., Morgan, M., Lewis, L. R., Logan, C. V., Tan, P. L., Beer, M. A. & 14 others, Inglehearn, C. F., Lewis, R. A., Jacobson, S. G., Bergmann, C., Beales, P. L., Attié-Bitach, T., Johnson, C. A., Otto, E. A., Bhattacharya, S. S., Hildebrandt, F., Gibbs, R. A., Koenekoop, R. K., Swaroop, A. & Katsanis, E. N., Jun 1 2009, In : Nature Genetics. 41, 6, p. 739-745 7 p.

Research output: Contribution to journalArticle

203 Scopus citations

Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations

Chung, W. K., Patki, A., Matsuoka, N., Boyer, B. B., Liu, N., Musani, S. K., Goropashnaya, A. V., Tan, P. L., Katsanis, E. N., Johnson, S. B., Gregersen, P. K., Allison, D. B., Leibel, R. L. & Tiwari, H. K., Feb 1 2009, In : Human Heredity. 67, 3, p. 193-205 13 p.

Research output: Contribution to journalArticle

Open Access
15 Scopus citations

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

De Pontual, L., Zaghloul, N. A., Thomas, S., Davis, E. E., Mcgaughey, D. M., Dollfus, H., Baumann, C., Bessling, S. L., Babarit, C., Pelet, A., Gascue, C., Beales, P., Munnich, A., Lyonnet, S., Etchevers, H., Attie-Bitach, T., Badano, J. L., McCallion, A. S., Katsanis, E. N. & Amiel, J., Aug 18 2009, In : Proceedings of the National Academy of Sciences of the United States of America. 106, 33, p. 13921-13926 6 p.

Research output: Contribution to journalArticle

46 Scopus citations

From association to causality: The new frontier for complex traits

Katsanis, E. N., Feb 25 2009, In : Genome Medicine. 1, 2, gm23.

Research output: Contribution to journalComment/debate

Open Access
4 Scopus citations

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

Bialas, N. J., Inglis, P. N., Li, C., Robinson, J. F., Parker, J. D. K., Healey, M. P., Davis, E. E., Inglis, C. D., Toivonen, T., Cottell, D. C., Blacque, O. E., Quarmby, L. M., Katsanis, E. N. & Leroux, M. R., Mar 1 2009, In : Journal of cell science. 122, 5, p. 611-624 14 p.

Research output: Contribution to journalArticle

Open Access
55 Scopus citations

Linkage of a mild late-onset phenotype of fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2

Riazuddin, S. A., Eghrari, A. O., Al-Saif, A., Davey, L., Meadows, D. N., Katsanis, E. N. & Gottsch, J. D., Dec 1 2009, In : Investigative Ophthalmology and Visual Science. 50, 12, p. 5667-5671 5 p.

Research output: Contribution to journalArticle

Open Access
66 Scopus citations

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

Zaghloul, N. A. & Katsanis, E. N., Mar 2 2009, In : Journal of Clinical Investigation. 119, 3, p. 428-437 10 p.

Research output: Contribution to journalReview article

Open Access
261 Scopus citations

Progression of fuchs corneal dystrophy in a family linked to the FCD1 locus

Meadows, D. N., Eghrari, A. O., Riazuddin, S. A., Emmert, D. G., Katsanis, E. N. & Gottsch, J. D., Dec 1 2009, In : Investigative Ophthalmology and Visual Science. 50, 12, p. 5662-5666 5 p.

Research output: Contribution to journalArticle

Open Access
19 Scopus citations

The authors reply

Ambati, J., Katsanis, E. N. & Zhang, K., May 21 2009, In : New England Journal of Medicine. 360, 21, p. 2255-2256 2 p.

Research output: Contribution to journalLetter

1 Scopus citations

Thermosensory and mechanosensory perception in human genetic disease

Tan, P. L. & Katsanis, E. N., Oct 15 2009, In : Human molecular genetics. 18, R2, p. R146-R155

Research output: Contribution to journalArticle

Open Access
11 Scopus citations

The Vertebrate Primary Cilium in Development, Homeostasis, and Disease

Gerdes, J. M., Davis, E. E. & Katsanis, E. N., Apr 3 2009, In : Cell. 137, 1, p. 32-45 14 p.

Research output: Contribution to journalReview article

Open Access
485 Scopus citations
2008

An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes

Li, C., Inglis, P. N., Leitch, C. C., Efimenko, E., Zaghloul, N. A., Mok, C. A., Davis, E. E., Bialas, N. J., Healey, M. P., Héon, E., Zhen, M., Swoboda, P., Katsanis, E. N. & Leroux, M. R., Mar 2008, In : PLoS genetics. 4, 3, e1000044.

Research output: Contribution to journalArticle

Open Access
40 Scopus citations

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

Gorden, N. T., Arts, H. H., Parisi, M. A., Coene, K. L. M., Letteboer, S. J. F., van Beersum, S. E. C., Mans, D. A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A. F., Özyurek, H., Dibooglu, S., Otto, E. A., Liu, Y., Davis, E. E., Hutter, C. M., Bammler, T. K., Farin, F. M., Dorschner, M. & 15 others, Topçu, M., Zackai, E. H., Rosenthal, P., Owens, K. N., Katsanis, E. N., Vincent, J. B., Hildebrandt, F., Rubel, E. W., Raible, D. W., Knoers, N. V. A. M., Chance, P. F., Roepman, R., Moens, C. B., Glass, I. A. & Doherty, D., Nov 17 2008, In : American journal of human genetics. 83, 5, p. 559-571 13 p.

Research output: Contribution to journalArticle

Open Access
146 Scopus citations

Chapter 7 Ciliary Function and Wnt Signal Modulation

Gerdes, J. M. & Katsanis, E. N., Dec 1 2008, Ciliary Function in Mammalian Development. Yoder, B. (ed.). p. 175-195 21 p. (Current Topics in Developmental Biology; vol. 85).

Research output: Chapter in Book/Report/Conference proceedingChapter

51 Scopus citations

Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome (Nature Genetics (2008) 40, (443-448))

Leitch, C. C., Zaghloul, N. A., Davis, E. E., Stoetzel, C., Diaz-Font, A., Rix, S., Al-Fadhel, M., Lewis, R. A., Eyaid, W., Banin, E., Dollfus, H., Beales, P. L., Badano, J. L. & Katsanis, E. N., Jul 1 2008, In : Nature Genetics. 40, 7, 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Leitch, C. C., Zaghloul, N. A., Davis, E. E., Stoetzel, C., Diaz-Font, A., Rix, S., Al-Fadhel, M., Lewis, R. A., Eyaid, W., Banin, E., Dollfus, H., Beales, P. L., Badano, J. L. & Katsanis, E. N., Apr 1 2008, In : Nature Genetics. 40, 4, p. 443-448 6 p.

Research output: Contribution to journalArticle

280 Scopus citations

Journal club

Katsanis, E. N., Jan 31 2008, In : Nature. 451, 7178, 1 p.

Research output: Contribution to journalArticle

Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: A candidate for psychiatric illnesses

Kamiya, A., Tan, P. L., Kubo, K. I., Engelhard, C., Ishizuka, K., Kubo, A., Tsukita, S., Pulver, A. E., Nakajima, K., Cascella, N. G., Katsanis, E. N. & Sawa, A., Sep 1 2008, In : Archives of general psychiatry. 65, 9, p. 996-1006 11 p.

Research output: Contribution to journalArticle

Open Access
106 Scopus citations

Toll-like receptor 3 and geographic atrophy in age-related macular degeneration

Yang, Z., Stratton, C., Francis, P. J., Kleinman, M. E., Tan, P. L., Gibbs, D., Tong, Z., Chen, H., Constantine, R., Yang, X., Chen, Y., Zeng, J., Davey, L., Ma, X., Hau, V. S., Wang, C., Harmon, J., Buehler, J., Pearson, E., Patel, S. & 21 others, Kaminoh, Y., Watkins, S., Luo, L., Zabriskie, N. A., Bernstein, P. S., Cho, W., Schwager, A., Hinton, D. R., Klein, M. L., Hamon, S. C., Simmons, E., Yu, B., Campochiaro, B., Sunness, J. S., Campochiaro, P., Jorde, L., Parmigiani, G., Zack, D. J., Katsanis, E. N., Ambati, J. & Zhang, K., Oct 2 2008, In : New England Journal of Medicine. 359, 14, p. 1456-1463 8 p.

Research output: Contribution to journalArticle

170 Scopus citations
2007

An age-old problem

Katsanis, E. N. & Rosenberg, S. M., Feb 2007, In : PLoS genetics. 3, 2, p. 159-160 2 p.

Research output: Contribution to journalEditorial

Open Access
1 Scopus citations

Bardet-biedl syndrome: New insights into ciliopathies and oligogenic traits

Dollfus, H., Katsanis, E. N. & Beales, P., Jan 1 2007, Obesity: Genomics and Postgenomics. CRC Press, p. 195-204 10 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Bardet-Biedl syndrome in an African-American patient: Should the diagnostic criteria be expanded to include hydrometrocolpos?

Toma, H. S., Tan, P. L., McKusick, V. A., Katsanis, E. N. & Adams, N. A., Apr 1 2007, In : Ophthalmic Genetics. 28, 2, p. 95-99 5 p.

Research output: Contribution to journalArticle

5 Scopus citations

Cell polarization defects in early heart development

Davis, E. E. & Katsanis, E. N., Jul 1 2007, In : Circulation research. 101, 2, p. 122-124 3 p.

Research output: Contribution to journalEditorial

Open Access
6 Scopus citations

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

Gerdes, J. M., Liu, Y., Zaghloul, N. A., Leitch, C. C., Lawson, S. S., Kato, M., Beachy, P. A., Beales, P. L., DeMartino, G. N., Fisher, S., Badano, J. L. & Katsanis, E. N., Nov 2007, In : Nature Genetics. 39, 11, p. 1350-1360 11 p.

Research output: Contribution to journalArticle

291 Scopus citations

Epistatic interactions with a common hypomorphic Ret allele in syndromic Hirschsprung disease

De Pontual, L., Pelet, A., Clement-Ziza, M., Trochet, D., Antonarakis, S. E., Attie-Bitach, T., Beales, P. L., Blouin, J. L., Dastot-Le Moal, F., Dollfus, H., Goossens, M., Katsanis, E. N., Touraine, R., Feingold, J., Munnich, A., Lyonnet, S. & Amiel, J., Aug 2007, In : Human mutation. 28, 8, p. 790-796 7 p.

Research output: Contribution to journalArticle

59 Scopus citations

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

Stoetzel, C., Muller, J., Laurier, V., Davis, E. E., Zaghloul, N. A., Vicaire, S., Jacquelin, C., Plewniak, F., Leitch, C. C., Sarda, P., Hamel, C., De Ravel, T. J. L., Lewis, R. A., Friederich, E., Thibault, C., Danse, J. M., Verloes, A., Bonneau, D., Katsanis, E. N., Poch, O. & 2 others, Mandel, J. L. & Dollfus, H., Jan 2007, In : American journal of human genetics. 80, 1, p. 1-11 11 p.

Research output: Contribution to journalArticle

Open Access
172 Scopus citations

Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome

Abd-El-Barr, M. M., Sykoudis, K., Andrabi, S., Eichers, E. R., Pennesi, M. E., Tan, P. L., Wilson, J. H., Katsanis, E. N., Lupski, J. R. & Wu, S. M., Dec 1 2007, In : Vision Research. 47, 27, p. 3394-3407 14 p.

Research output: Contribution to journalArticle

Open Access
65 Scopus citations

Loss of Bardet-Biedl syndrome proteins causes defects in peripheral sensory innervation and function

Tan, P. L., Barr, T., Inglis, P. N., Mitsuma, N., Huang, S. M., Garcia-Gonzalez, M. A., Bradley, B. A., Coforio, S., Albrecht, P. J., Watnick, T., Germino, G. G., Beales, P. L., Caterina, M. J., Leroux, M. R., Rice, F. L. & Katsanis, E. N., Oct 30 2007, In : Proceedings of the National Academy of Sciences of the United States of America. 104, 44, p. 17524-17529 6 p.

Research output: Contribution to journalArticle

Open Access
50 Scopus citations

Population bottlenecks as a potential major shaping force of human genome architecture

Gherman, A., Chen, P. E., Teslovich, T. M., Stankiewicz, P., Withers, M., Kashuk, C. S., Chakravarti, A., Lupski, J. R., Cutler, D. J. & Katsanis, E. N., Jul 2007, In : PLoS genetics. 3, 7, p. 1223-1231 9 p.

Research output: Contribution to journalArticle

Open Access
42 Scopus citations

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

Dawe, H. R., Smith, U. M., Cullinane, A. R., Gerrelli, D., Cox, P., Badano, J. L., Blair-Reid, S., Sriram, N., Katsanis, E. N., Attie-Bitach, T., Afford, S. C., Copp, A. J., Kelly, D. A., Gull, K. & Johnson, C. A., Jan 15 2007, In : Human molecular genetics. 16, 2, p. 173-186 14 p.

Research output: Contribution to journalArticle

Open Access
183 Scopus citations
2006

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Stoetzel, C., Laurier, V., Davis, E. E., Muller, J., Rix, S., Badano, J. L., Leitch, C. C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., Sarda, P., Hamel, C., Lacombe, D., Holder, M., Odent, S., Holder, S., Brooks, A. S., Elcioglu, N. H. & 15 others, Da Silva, E., Rossillion, B., Sigaudy, S., De Ravel, T. J. L., Lewis, R. A., Leheup, B., Verloes, A., Amati-Bonneau, P., Mégarbané, A., Poch, O., Bonneau, D., Beales, P. L., Mandel, J. L., Katsanis, E. N. & Dollfus, H., May 2006, In : Nature Genetics. 38, 5, p. 521-524 4 p.

Research output: Contribution to journalArticle

187 Scopus citations

Ciliary proteins and exencephaly

Katsanis, E. N., Feb 1 2006, In : Nature Genetics. 38, 2, p. 135-136 2 p.

Research output: Contribution to journalShort survey

18 Scopus citations

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

Badano, J. L., Leitch, C. C., Ansley, S. J., May-Simera, H., Lawson, S., Lewis, R. A., Beales, P. L., Dietz, H. C., Fisher, S. & Katsanis, E. N., Jan 19 2006, In : Nature. 439, 7074, p. 326-330 5 p.

Research output: Contribution to journalArticle

189 Scopus citations

Erratum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus (Nature Genetics (2006) 38 (521-524))

Stoetzel, C., Laurier, V., Davis, E. E., Muller, J., Rix, S., Badano, J. L., Leitch, C. C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., Sarda, P., Hamel, C., Lacombe, D., Holder, M., Odent, S., Holder, S., Brooks, A. S., Elcioglu, N. H. & 15 others, Silva, E. D., Rossillion, B., Sigaudy, S., De Ravel, T. J. L., Lewis, R. A., Leheup, B., Verloes, A., Amati-Bonneau, P., Mégarbané, A., Poch, O., Bonneau, D., Beales, P. L., Mandel, J. L., Katsanis, E. N. & Dollfus, H., Jun 1 2006, In : Nature Genetics. 38, 6, 1 p.

Research output: Contribution to journalComment/debate

2 Scopus citations

Life without Centrioles: Cilia in the Spotlight

Badano, J. L. & Katsanis, E. N., Jun 30 2006, In : Cell. 125, 7, p. 1228-1230 3 p.

Research output: Contribution to journalShort survey

Open Access
16 Scopus citations

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

Eichers, E. R., Abd-El-Barr, M. M., Paylor, R., Lewis, R. A., Bi, W., Lin, X., Meehan, T. P., Stockton, D. W., Wu, S. M., Lindsay, E., Justice, M. J., Beales, P. L., Katsanis, E. N. & Lupski, J. R., Sep 1 2006, In : Human Genetics. 120, 2, p. 211-226 16 p.

Research output: Contribution to journalArticle

69 Scopus citations

The ciliary proteome database: An integrated community resource for the genetic and functional dissection of cilia [1]

Gherman, A., Davis, E. E. & Katsanis, E. N., Sep 4 2006, In : Nature Genetics. 38, 9, p. 961-962 2 p.

Research output: Contribution to journalLetter

220 Scopus citations

The ciliopathies: An emerging class of human genetic disorders

Badano, J. L., Mitsuma, N., Beales, P. L. & Katsanis, E. N., Oct 31 2006, Annual Review of Genomics and Human Genetics. Chakravarti, A. & Green, E. (eds.). p. 125-148 24 p. (Annual Review of Genomics and Human Genetics; vol. 7).

Research output: Chapter in Book/Report/Conference proceedingChapter

791 Scopus citations

The Emerging Complexity of the Vertebrate Cilium: New Functional Roles for an Ancient Organelle

Davis, E. E., Brueckner, M. & Katsanis, E. N., Jul 1 2006, In : Developmental Cell. 11, 1, p. 9-19 11 p.

Research output: Contribution to journalReview article

Open Access
109 Scopus citations