Elias Nicholas Katsanis

  • 23518 Citations
19952020

Research output per year

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Research Output

2015

The Bardet-Biedl and orofacial digital type 1 ciliopathies

Franco, B. & Katsanis, E. N., Mar 1 2015, Polycystic Kidney Disease: From Bench to Bedside. Future Medicine Ltd., p. 91-112 22 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Waters, A. M., Asfahani, R., Carroll, P., Bicknell, L., Lescai, F., Bright, A., Chanudet, E., Brooks, A., Christou-Savina, S., Osman, G., Walsh, P., Bacchelli, C., Chapgier, A., Vernay, B., Bader, D. M., Deshpande, C., O'Sullivan, M., Ocaka, L., Stanescu, H., Stewart, H. S. & 13 others, Hildebrandt, F., Otto, E., Johnson, C. A., Szymanska, K., Katsanis, E. N., Davis, E. E., Kleta, R., Hubank, M., Doxsey, S., Jackson, A., Stupka, E., Winey, M. & Beales, P. L., 2015, In : Journal of medical genetics. 52, 3, p. 147-156 10 p.

Research output: Contribution to journalArticle

Open Access
38 Scopus citations

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

Roberson, E. C., Dowdle, W. E., Ozanturk, A., Garcia-Gonzalo, F. R., Li, C., Halbritter, J., Elkhartoufi, N., Porath, J. D., Cope, H., Ashley-Koch, A., Gregory, S., Thomas, S., Sayer, J. A., Saunier, S., Otto, E. A., Katsanis, E. N., Davis, E. E., Attié-Bitach, T., Hildebrandt, F., Leroux, M. R. & 1 others, Reiter, J. F., 2015, In : Journal of Cell Biology. 209, 1, p. 129-142 14 p.

Research output: Contribution to journalArticle

Open Access
48 Scopus citations

Transient laminin beta 1a Induction Defines the Wound Epidermis during Zebrafish Fin Regeneration

Chen, C. H., Merriman, A. F., Savage, J., Willer, J., Wahlig, T., Katsanis, E. N., Yin, V. P. & Poss, K. D., Aug 1 2015, In : PLoS genetics. 11, 8, e1005437.

Research output: Contribution to journalArticle

Open Access
19 Scopus citations

Unique among ciliopathies: Primary ciliary dyskinesia, a motile cilia disorder

Praveen, K., Davis, E. E. & Katsanis, E. N., Mar 10 2015, In : F1000Prime Reports. 7, 36.

Research output: Contribution to journalArticle

Open Access
41 Scopus citations
2014

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

Nesin, V., Wiley, G., Kousi, M., Ong, E. C., Lehmann, T., Nicholl, D. J., Suri, M., Shahrizaila, N., Katsanis, E. N., Gaffney, P. M., Wierenga, K. J. & Tsiokas, L., Mar 18 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 11, p. 4197-4202 6 p.

Research output: Contribution to journalArticle

Open Access
117 Scopus citations

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype

Magini, P., Pippucci, T., Tsai, I. C., Coppola, S., Stellacci, E., Bartoletti-Stella, A., Turchetti, D., Graziano, C., Cenacchi, G., Neri, I., Cordelli, D. M., Marchiani, V., Bergamaschi, R., Gasparre, G., Neri, G., Mazzanti, L., Patrizi, A., Franzoni, E., Romeo, G., Bordo, D. & 3 others, Tartaglia, M., Katsanis, E. N. & Seri, M., Jul 2014, In : Human molecular genetics. 23, 13, p. 3607-3617 11 p., ddu070.

Research output: Contribution to journalArticle

Open Access
24 Scopus citations

A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans

Brooks, S. S., Wall, A. L., Golzio, C., Reid, D. W., Kondyles, A., Willer, J. R., Botti, C., Nicchitta, C. V., Katsanis, E. N. & Davis, E. E., Oct 1 2014, In : Genetics. 198, 2, p. 723-733 11 p.

Research output: Contribution to journalArticle

Open Access
46 Scopus citations

A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity

Lim, E. T., Liu, Y. P., Chan, Y., Tiinamaija, T., Käräjämäki, A. M., Madsen, E., Altshuler, D. M., Raychaudhuri, S., Groop, L., Flannick, J., Hirschhorn, J. N., Katsanis, E. N. & Daly, M. J., 2014, In : American journal of human genetics. 95, 5, p. 509-520 12 p.

Research output: Contribution to journalArticle

Open Access
19 Scopus citations

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

Sugathan, A., Biagioli, M., Golzio, C., Erdin, S., Blumenthal, I., Manavalan, P., Ragavendran, A., Brand, H., Lucente, D., Miles, J., Sheridan, S. D., Stortchevoi, A., Kellis, M., Haggarty, S. J., Katsanis, E. N., Gusella, J. F. & Talkowski, M. E., Oct 21 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 42, p. E4468-E4477

Research output: Contribution to journalArticle

Open Access
134 Scopus citations

Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

Liu, Y. P., Tsai, I. C., Morleo, M., Oh, E. C., Leitch, C. C., Massa, F., Lee, B. H., Parker, D. S., Finley, D., Zaghloul, N. A., Franco, B. & Katsanis, E. N., 2014, In : Journal of Clinical Investigation. 124, 5, p. 2059-2070 12 p.

Research output: Contribution to journalArticle

Open Access
52 Scopus citations

Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma

Ulmer Carnes, M., Liu, Y. P., Allingham, R. R., Whigham, B. T., Havens, S., Garrett, M. E., Qiao, C., Katsanis, E. N., Wiggs, J. L., Pasquale, L. R., Ashley-Koch, A., Oh, E. C., Hauser, M. A., Brilliant, M., Budenz, D. L., Chin, H. R., Cooke Bailey, J., Fingert, J., Friedman, D. S., Gaasterland, D. & 25 others, Gaasterland, T., Haines, J., Hauser, M. A., Kang, J. H., Lee, R. K., Lichter, P. R., Liu, Y., Loomis, S., McCarty, C. E., Moroi, S. E., Pasquale, L. R., Pericak-Vance, M., Realini, A., Richards, J. E., Schuman, J. S., Scott, W. K., Singh, K., Sit, A., Vollrath, D., Weinreb, R. N., Wiggs, J. L., Wollstein, G., Yaspan, B. L., Zack, D. & Zhang, K., May 1 2014, In : PLoS genetics. 10, 5, e1004372.

Research output: Contribution to journalArticle

Open Access
53 Scopus citations

Disruptive CHD8 mutations define a subtype of autism early in development

Bernier, R., Golzio, C., Xiong, B., Stessman, H. A., Coe, B. P., Penn, O., Witherspoon, K., Gerdts, J., Baker, C., Vulto-Van Silfhout, A. T., Schuurs-Hoeijmakers, J. H., Fichera, M., Bosco, P., Buono, S., Alberti, A., Failla, P., Peeters, H., Steyaert, J., Vissers, L. E. L. M., Francescatto, L. & 14 others, Mefford, H. C., Rosenfeld, J. A., Bakken, T., O'Roak, B. J., Pawlus, M., Moon, R., Shendure, J., Amaral, D. G., Lein, E., Rankin, J., Romano, C., De Vries, B. B. A., Katsanis, E. N. & Eichler, E. E., Jul 17 2014, In : Cell. 158, 2, p. 263-276 14 p.

Research output: Contribution to journalArticle

Open Access
316 Scopus citations

Dissecting Intraflagellar Transport, One Molecule at a Time

Davis, E. E. & Katsanis, E. N., Nov 10 2014, In : Developmental Cell. 31, 3, 1 p.

Research output: Contribution to journalShort survey

Open Access
3 Scopus citations

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes

Carvalho, C. M. B., Vasanth, S., Shinawi, M., Russell, C., Ramocki, M. B., Brown, C. W., Graakjaer, J., Skytte, A. B., Vianna-Morgante, A. M., Krepischi, A. C. V., Patel, G. S., Immken, L. D., Aleck, K., Lim, C., Cheung, S. W., Rosenberg, C., Katsanis, E. N. & Lupski, J. R., Jan 1 2014, In : American journal of human genetics. 95, 5, p. 565-578 14 p.

Research output: Contribution to journalArticle

Open Access
23 Scopus citations

Elution profile analysis of SDS-induced subcomplexes by quantitative mass spectrometry

Texier, Y., Toedt, G., Gorza, M., Mans, D. A., Van Reeuwijk, J., Horn, N., Willer, J., Katsanis, E. N., Roepman, R., Gibson, T. J., Ueffing, M. & Boldt, K., May 2014, In : Molecular and Cellular Proteomics. 13, 5, p. 1382-1391 10 p.

Research output: Contribution to journalArticle

Open Access
20 Scopus citations

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

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, E. N. & Crowley, W. F., Dec 16 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 50, p. 17953-17958 6 p.

Research output: Contribution to journalArticle

Open Access
32 Scopus citations

Interpreting human genetic variation with in vivo zebrafish assays

Davis, E. E., Frangakis, S. & Katsanis, E. N., Oct 1 2014, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1842, 10, p. 1960-1970 11 p.

Research output: Contribution to journalReview article

Open Access
37 Scopus citations

Managing Incidental Genomic Findings in Clinical Trials: Fulfillment of the Principle of Justice

Dal-Ré, R., Katsanis, E. N., Katsanis, S., Parker, L. S. & Ayuso, C., Jan 1 2014, In : PLoS medicine. 11, 1, e1001584.

Research output: Contribution to journalArticle

Open Access
10 Scopus citations

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

Shaheen, R., Shamseldin, H. E., Loucks, C. M., Seidahmed, M. Z., Ansari, S., Ibrahim Khalil, M., Al-Yacoub, N., Davis, E. E., Mola, N. A., Szymanska, K., Herridge, W., Chudley, A. E., Chodirker, B. N., Schwartzentruber, J., Majewski, J., Katsanis, E. N., Poizat, C., Johnson, C. A., Parboosingh, J., Boycott, K. M. & 2 others, Innes, A. M. & Alkuraya, F. S., Jan 2 2014, In : American journal of human genetics. 94, 1, p. 73-79 7 p.

Research output: Contribution to journalArticle

Open Access
45 Scopus citations

Novel bone morphogenetic protein signaling through Smad2 and Smad3 to regulate cancer progression and development

Holtzhausen, A., Golzio, C., How, T., Lee, Y. H., Schiemann, W. P., Katsanis, E. N. & Blobe, G. C., Mar 2014, In : FASEB Journal. 28, 3, p. 1248-1267 20 p.

Research output: Contribution to journalArticle

48 Scopus citations

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome

Lindstrand, A., Davis, E. E., Carvalho, C. M. B., 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, E. N., May 1 2014, In : American Journal of Human Genetics. 94, 5, p. 745-754 10 p.

Research output: Contribution to journalArticle

Open Access
44 Scopus citations

Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome

Schulte, E. C., Kousi, M., Tan, P. L., Tilch, E., Knauf, F., Lichtner, P., Trenkwalder, C., Högl, B., Frauscher, B., Berger, K., Fietze, I., Hornyak, M., Oertel, W. H., Bachmann, C. G., Zimprich, A., Peters, A., Gieger, C., Meitinger, T., Müller-Myhsok, B., Katsanis, E. N. & 1 others, Winkelmann, J., Jul 3 2014, In : American journal of human genetics. 95, 1, p. 85-95 11 p.

Research output: Contribution to journalArticle

Open Access
31 Scopus citations

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

Gee, H. Y., Otto, E. A., Hurd, T. W., Ashraf, S., Chaki, M., Cluckey, A., Vega-Warner, V., Saisawat, P., Diaz, K. A., Fang, H., Kohl, S., Allen, S. J., Airik, R., Zhou, W., Ramaswami, G., Janssen, S., Fu, C., Innis, J. L., Weber, S., Vester, U. & 22 others, Davis, E. E., Katsanis, E. N., Fathy, H. M., Jeck, N., Klaus, G., Nayir, A., Rahim, K. A., Attrach, I. A., Hassoun, I. A., Ozturk, S., Drozdz, D., Helmchen, U., O'toole, J. F., Attanasio, M., Lewis, R. A., Nürnberg, G., Nürnberg, P., Washburn, J., Macdonald, J., Innis, J. W., Levy, S. & Hildebrandt, F., Apr 2014, In : Kidney international. 85, 4, p. 880-887 8 p.

Research output: Contribution to journalArticle

Open Access
45 Scopus citations

Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT

Davis, E. E., Savage, J. H., Willer, J. R., Jiang, Y. H., Angrist, M., Androutsopoulos, A. & Katsanis, E. N., Apr 1 2014, In : Clinical Genetics. 85, 4, p. 359-364 6 p.

Research output: Contribution to journalArticle

5 Scopus citations

Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31

Villanueva, A., Willer, J. R., Bryois, J., Dermitzakis, E. T., Katsanis, E. N. & Davis, E. E., Apr 7 2014, In : Investigative Ophthalmology and Visual Science. 55, 4, p. 2121-2129 9 p.

Research output: Contribution to journalArticle

Open Access
18 Scopus citations
2013

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

Van De Ven, J. P. H., Nilsson, S. C., Tan, P. L., Buitendijk, G. H. S., Ristau, T., Mohlin, F. C., Nabuurs, S. B., Schoenmaker-Koller, F. E., Smailhodzic, D., Campochiaro, P. A., Zack, D. J., Duvvari, M. R., Bakker, B., Paun, C. C., Boon, C. J. F., Uitterlinden, A. G., Liakopoulos, S., Klevering, B. J., Fauser, S., Daha, M. R. & 5 others, Katsanis, E. N., Klaver, C. C. W., Blom, A. M., Hoyng, C. B. & Den Hollander, A. I., Jul 1 2013, In : Nature Genetics. 45, 7, p. 813-817 5 p.

Research output: Contribution to journalArticle

103 Scopus citations

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

Hjeij, R., Lindstrand, A., Francis, R., Zariwala, M. A., Liu, X., Li, Y., Damerla, R., Dougherty, G. W., Abouhamed, M., Olbrich, H., Loges, N. T., Pennekamp, P., Davis, E. E., Carvalho, C. M. B., Pehlivan, D., Werner, C., Raidt, J., Köhler, G., Häffner, K., Reyes-Mugica, M. & 8 others, Lupski, J. R., Leigh, M. W., Rosenfeld, M., Morgan, L. C., Knowles, M. R., Lo, C. W., Katsanis, E. N. & Omran, H., Aug 8 2013, In : American journal of human genetics. 93, 2, p. 357-367 11 p.

Research output: Contribution to journalArticle

Open Access
71 Scopus citations

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

Margolin, D. H., Kousi, M., Chan, Y. M., Lim, E. T., Schmahmann, J. D., Hadjivassiliou, M., Hall, J. E., Adam, I., Dwyer, A., Plummer, L., Aldrin, S. V., O'Rourke, J., Kirby, A., Lage, K., Milunsky, A., Milunsky, J. M., Chan, J., Hedley-Whyte, E. T., Daly, M. J., Katsanis, E. N. & 1 others, Seminara, S. B., 2013, In : New England Journal of Medicine. 368, 21, p. 1992-2003 12 p.

Research output: Contribution to journalArticle

118 Scopus citations

Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet-Biedl syndrome

Ashkinadze, E., Rosen, T., Brooks, S., Katsanis, E. N. & Davis, E. E., Jun 1 2013, In : Clinical Genetics. 83, 6, p. 553-559 7 p.

Research output: Contribution to journalArticle

8 Scopus citations

Context-dependent regulation of Wnt signaling through the primary cilium

Oh, E. C. & Katsanis, E. N., Dec 28 2013, In : Journal of the American Society of Nephrology. 24, 1, p. 10-18 9 p.

Research output: Contribution to journalReview article

Open Access
43 Scopus citations

Defects in the IFT-B component IFT172 cause jeune and mainzer-saldino syndromes in humans

Halbritter, J., Bizet, A. A., Schmidts, M., Porath, J. D., Braun, D. A., Gee, H. Y., McInerney-Leo, A. M., Krug, P., Filhol, E., Davis, E. E., Airik, R., Czarnecki, P. G., Lehman, A. M., Trnka, P., Nitschké, P., Bole-Feysot, C., Schueler, M., Knebelmann, B., Burtey, S., Szabó, A. J. & 29 others, Tory, K., Leo, P. J., Gardiner, B., McKenzie, F. A., Zankl, A., Brown, M. A., Hartley, J. L., Maher, E. R., Li, C., Leroux, M. R., Scambler, P. J., Zhan, S. H., Jones, S. J., Kayserili, H., Tuysuz, B., Moorani, K. N., Constantinescu, A., Krantz, I. D., Kaplan, B. S., Shah, J. V., Hurd, T. W., Doherty, D., Katsanis, E. N., Duncan, E. L., Otto, E. A., Beales, P. L., Mitchison, H. M., Saunier, S. & Hildebrandt, F., Nov 7 2013, In : American journal of human genetics. 93, 5, p. 915-925 11 p.

Research output: Contribution to journalArticle

Open Access
113 Scopus citations

Erratum: SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant (The American Journal of Human Genetics (2013) 93(5) (798–811) (S0002929713004230) (10.1016/j.ajhg.2013.09.010))

Dauber, A., Golzio, C., Guenot, C., Jodelka, F. M., Kibaek, M., Kjaergaard, S., Leheup, B., Martinet, D., Nowaczyk, M. J. M., Rosenfeld, J. A., Zeesman, S., Zunich, J., Beckmann, J. S., Hirschhorn, J. N., Hastings, M. L., Jacquemont, S. & Katsanis, E. N., Nov 7 2013, In : American journal of human genetics. 93, 5, 1 p.

Research output: Contribution to journalComment/debate

Open Access

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

Beunders, G., Voorhoeve, E., Golzio, C., Pardo, L. M., Rosenfeld, J. A., Talkowski, M. E., Simonic, I., Lionel, A. C., Vergult, S., Pyatt, R. E., Van De Kamp, J., Nieuwint, A., Weiss, M. M., Rizzu, P., Verwer, L. E. N. I., Van Spaendonk, R. M. L., Shen, Y., Wu, B. L., Yu, T., Yu, Y. & 43 others, Chiang, C., Gusella, J. F., Lindgren, A. M., Morton, C. C., Van Binsbergen, E., Bulk, S., Van Rossem, E., Vanakker, O., Armstrong, R., Park, S. M., Greenhalgh, L., Maye, U., Neill, N. J., Abbott, K. M., Sell, S., Ladda, R., Farber, D. M., Bader, P. I., Cushing, T., Drautz, J. M., Konczal, L., Nash, P., De Los Reyes, E., Carter, M. T., Hopkins, E., Marshall, C. R., Osborne, L. R., Gripp, K. W., Thrush, D. L., Hashimoto, S., Gastier-Foster, J. M., Astbury, C., Ylstra, B., Meijers-Heijboer, H., Posthuma, D., Menten, B., Mortier, G., Scherer, S. W., Eichler, E. E., Girirajan, S., Katsanis, E. N., Groffen, A. J. & Sistermans, E. A., Feb 7 2013, In : American journal of human genetics. 92, 2, p. 210-220 11 p.

Research output: Contribution to journalArticle

Open Access
73 Scopus citations

Genetic architecture of reciprocal CNVs

Golzio, C. & Katsanis, E. N., Jun 1 2013, In : Current Opinion in Genetics and Development. 23, 3, p. 240-248 9 p.

Research output: Contribution to journalReview article

33 Scopus citations

In vivo modeling of the morbid human genome using Danio rerio.

Niederriter, A. R., Davis, E. E., Golzio, C., Oh, E. C., Tsai, I. C. & Katsanis, E. N., Jan 1 2013, In : Journal of visualized experiments : JoVE. 78

Research output: Contribution to journalArticle

37 Scopus citations

Molecular genetic testing and the future of clinical genomics

Katsanis, S. H. & Katsanis, E. N., Jun 1 2013, In : Nature Reviews Genetics. 14, 6, p. 415-426 12 p.

Research output: Contribution to journalReview article

198 Scopus citations

Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes

Tran-Viet, K. N., Soler, V., Quiette, V., Powell, C., Yanovitch, T., Metlapally, R., Luo, X., Katsanis, E. N., Nading, E. & Young, T. L., Apr 5 2013, In : Molecular vision. 19, p. 759-766 8 p.

Research output: Contribution to journalArticle

12 Scopus citations

Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4

Riazuddin, S. A., Vasanth, S., Katsanis, E. N. & Gottsch, J. D., Oct 3 2013, In : American journal of human genetics. 93, 4, p. 758-764 7 p.

Research output: Contribution to journalArticle

Open Access
50 Scopus citations

Mutations in LRRC50 Predispose Zebrafish and Humans to Seminomas

Basten, S. G., Davis, E. E., Gillis, A. J. M., van Rooijen, E., Stoop, H., Babala, N., Logister, I., Heath, Z. G., Jonges, T. N., Katsanis, E. N., Voest, E. E., van Eeden, F. J., Medema, R. H., Ketting, R. F., Schulte-Merker, S., Looijenga, L. H. J. & Giles, R. H., Apr 2013, In : PLoS genetics. 9, 4, e1003384.

Research output: Contribution to journalArticle

Open Access
29 Scopus citations

Next-generation sequencing of the human olfactory receptors

Mainland, J. D., Willer, J. R., Matsunami, H. & Katsanis, E. N., 2013, Proteomics for Biomarker Discovery: Methods and Protocols. Humana Press Inc, p. 133-147 15 p. (Methods in Molecular Biology; vol. 1003).

Research output: Chapter in Book/Report/Conference proceedingChapter

Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish

Ryan, S., Willer, J., Marjoram, L., Bagwell, J., Mankiewicz, J., Leshchiner, I., Goessling, W., Bagnat, M. & Katsanis, E. N., Nov 1 2013, In : Development (Cambridge). 140, 21, p. 4445-4451 7 p.

Research output: Contribution to journalArticle

Open Access
26 Scopus citations

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

Seddon, J. M., Yu, Y., Miller, E. C., Reynolds, R., Tan, P. L., Gowrisankar, S., Goldstein, J. I., Triebwasser, M., Anderson, H. E., Zerbib, J., Kavanagh, D., Souied, E., Katsanis, E. N., Daly, M. J., Atkinson, J. P. & Raychaudhuri, S., Nov 1 2013, In : Nature Genetics. 45, 11, p. 1366-1373 8 p.

Research output: Contribution to journalLetter

181 Scopus citations

Scrib and puf60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-Number variant

Dauber, A., Golzio, C., Guenot, C., Jodelka, F. M., Kibaek, M., Kjaergaard, S., Leheup, B., Martinet, D., Nowaczyk, M. J. M., Rosenfeld, J. A., Zeesman, S., Zunich, J., Beckmann, J. S., Hirschhorn, J. N., Hastings, M. L., Jacquemont, S. & Katsanis, E. N., Nov 7 2013, In : American journal of human genetics. 93, 5, p. 798-811 14 p.

Research output: Contribution to journalArticle

Open Access
44 Scopus citations

Seven new loci associated with age-related macular degeneration

Fritsche, L. G., Chen, W., Schu, M., Yaspan, B. L., Yu, Y., Thorleifsson, G., Zack, D. J., Arakawa, S., Cipriani, V., Ripke, S., Igo, R. P., Buitendijk, G. H. S., Sim, X., Weeks, D. E., Guymer, R. H., Merriam, J. E., Francis, P. J., Hannum, G., Agarwal, A., Armbrecht, A. M. & 136 others, Audo, I., Aung, T., Barile, G. R., Benchaboune, M., Bird, A. C., Bishop, P. N., Branham, K. E., Brooks, M., Brucker, A. J., Cade, W. H., Cain, M. S., Campochiaro, P. A., Chan, C. C., Cheng, C. Y., Chew, E. Y., Chin, K. A., Chowers, I., Clayton, D. G., Cojocaru, R., Conley, Y. P., Cornes, B. K., Daly, M. J., Dhillon, B., Edwards, A. O., Evangelou, E., Fagerness, J., Ferreyra, H. A., Friedman, J. S., Geirsdottir, A., George, R. J., Gieger, C., Gupta, N., Hagstrom, S. A., Harding, S. P., Haritoglou, C., Heckenlively, J. R., Holz, F. G., Hughes, G., Ioannidis, J. P. A., Ishibashi, T., Joseph, P., Jun, G., Kamatani, Y., Katsanis, E. N., N Keilhauer, C., Khan, J. C., Kim, I. K., Kiyohara, Y., Klein, B. E. K., Klein, R., Kovach, J. L., Kozak, I., Lee, C. J., Lee, K. E., Lichtner, P., Lotery, A. J., Meitinger, T., Mitchell, P., Mohand-Saïd, S., Moore, A. T., Morgan, D. J., Morrison, M. A., Myers, C. E., Naj, A. C., Nakamura, Y., Okada, Y., Orlin, A., Ortube, M. C., Othman, M. I., Pappas, C., Park, K. H., Pauer, G. J. T., Peachey, N. S., Poch, O., Priya, R. R., Reynolds, R., Richardson, A. J., Ripp, R., Rudolph, G., Ryu, E., Sahel, J. A., Schaumberg, D. A., Scholl, H. P. N., Schwartz, S. G., Scott, W. K., Shahid, H., Sigurdsson, H., Silvestri, G., Sivakumaran, T. A., Smith, R. T., Sobrin, L., Souied, E. H., Stambolian, D. E., Stefansson, H., Sturgill-Short, G. M., Takahashi, A., Tosakulwong, N., Truitt, B. J., Tsironi, E. E., Uitterlinden, A. G., Van Duijn, C. M., Vijaya, L., Vingerling, J. R., Vithana, E. N., Webster, A. R., Wichmann, H. E., Winkler, T. W., Wong, T. Y., Wright, A. F., Zelenika, D., Zhang, M., Zhao, L., Zhang, K., Klein, M. L., Hageman, G. S., Lathrop, G. M., Stefansson, K., Allikmets, R., Baird, P. N., Gorin, M. B., Wang, J. J., Klaver, C. C. W., Seddon, J. M., Pericak-Vance, M. A., Iyengar, S. K., Yates, J. R. W., Swaroop, A., Weber, B. H. F., Kubo, M., Deangelis, M. M., Léveillard, T., Thorsteinsdottir, U., Haines, J. L., Farrer, L. A., Heid, I. M. & Abecasis, G. R., Apr 2013, In : Nature Genetics. 45, 4, p. 433-439 7 p.

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484 Scopus citations

The bardet-biedl syndrome-related protein CCDC28b modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex

Cardenas-rodriguez, M., Irigoín, F., Osborn, D. P. S., Gascue, C., Katsanis, E. N., Beales, P. L. & Badano, J. L., Oct 1 2013, In : Human molecular genetics. 22, 20, p. 4031-4042 12 p., ddt253.

Research output: Contribution to journalArticle

17 Scopus citations

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

Wiszniewski, W., Hunter, J. V., Hanchard, N. A., Willer, J. R., Shaw, C., Tian, Q., Illner, A., Wang, X., Cheung, S. W., Patel, A., Campbell, I. M., Gelowani, V., Hixson, P., Ester, A. R., Azamian, M. S., Potocki, L., Zapata, G., Hernandez, P. P., Ramocki, M. B., Santos-Cortez, R. L. P. & 46 others, Wang, G., York, M. K., Justice, M. J., Chu, Z. D., Bader, P. I., Omo-Griffith, L., Madduri, N. S., Scharer, G., Crawford, H. P., Yanatatsaneejit, P., Eifert, A., Kerr, J., Bacino, C. A., Franklin, A. I. A., Goin-Kochel, R. P., Simpson, G., Immken, L., Haque, M. E., Stosic, M., Williams, M. D., Morgan, T. M., Pruthi, S., Omary, R., Boyadjiev, S. A., Win, K. K., Thida, A., Hurles, M., Hibberd, M. L., Khor, C. C., Van Vinh Chau, N., Gallagher, T. E., Mutirangura, A., Stankiewicz, P., Beaudet, A. L., Maletic-Savatic, M., Rosenfeld, J. A., Shaffer, L. G., Davis, E. E., Belmont, J. W., Dunstan, S., Simmons, C. P., Bonnen, P. E., Leal, S. M., Katsanis, E. N., Lupski, J. R. & Lalani, S. R., Aug 8 2013, In : American journal of human genetics. 93, 2, p. 197-210 14 p.

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Open Access
24 Scopus citations

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

Nishiguchi, K. M., Tearle, R. G., Liu, Y. P., Oh, E. C., Miyake, N., Benaglio, P., Harper, S., Koskiniemi-Kuendig, H., Venturini, G., Sharon, D., Koenekoop, R. K., Nakamura, M., Kondo, M., Ueno, S., Yasuma, T. R., Beckmann, J. S., Ikegawa, S., Matsumoto, N., Terasaki, H., Berson, E. L. & 2 others, Katsanis, E. N. & Rivolta, C., Oct 1 2013, In : Proceedings of the National Academy of Sciences of the United States of America. 110, 40, p. 16139-16144 6 p.

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Open Access
81 Scopus citations
2012

Cilia in vertebrate development and disease

Oh, E. C. & Katsanis, E. N., Feb 1 2012, In : Development. 139, 3, p. 443-448 6 p.

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Open Access
108 Scopus citations

Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation

Gascue, C., Tan, P. L., Cardenas-Rodriguez, M., Libisch, G., Fernandez-Calero, T., Liu, Y. P., Astrada, S., Robello, C., Naya, H., Katsanis, E. N. & Badano, J. L., Jan 15 2012, In : Journal of cell science. 125, 2, p. 362-375 14 p.

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Open Access
25 Scopus citations