Elias Nicholas Katsanis

  • 23518 Citations
19952020

Research output per year

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Research Output

Article

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

204 Scopus citations
Open Access
29 Scopus citations

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 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

A Genocentric Approach to Discovery of Mendelian Disorders

Task Force for Neonatal Genomics, Nov 7 2019, In : American journal of human genetics. 105, 5, p. 974-986 13 p.

Research output: Contribution to journalArticle

2 Scopus citations

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 human laterality disorder caused by a homozygous deleterious mutation in MMP21

Perles, Z., Moon, S., Ta-Shma, A., Yaacov, B., Francescatto, L., Edvardson, S., Rein, A. J. J. T., Elpeleg, O. & Katsanis, E. N., 2015, In : Journal of medical genetics. 52, 12, p. 840-847 8 p.

Research output: Contribution to journalArticle

Open Access
22 Scopus citations

A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

Kellaris, G., Khan, K., Baig, S. M., Tsai, I. C., Zamora, F. M., Ruggieri, P., Natowicz, M. R. & Katsanis, E. N., Jan 26 2018, In : Human genomics. 12, 1, 11.

Research output: Contribution to journalArticle

Open Access
9 Scopus citations

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., Kim, I. K., Cho, D., Zack, D., Souied, E., Scholl, H. P. N., Bala, E., ELee, K., Hunter, D. J., Sardell, R. J., Mitchell, P. & 142 others, Merriam, J. E., Cipriani, V., Hoffman, J. D., Schick, T., Lechanteur, Y. T. E., Guymer, R. H., Johnson, M. P., Jiang, Y., Stanton, C. M., Buitendijk, G. H. S., Zhan, X., Kwong, A. M., Boleda, A., Brooks, M., Gieser, L., Ratnapriya, R., Branham, K. E., Foerster, J. R., Heckenlively, J. R., Othman, M. I., Vote, B. J., Liang, H. H., Souzeau, E., McAllister, I. L., Isaacs, T., Hall, J., Lake, S., Mackey, D. A., Constable, I. J., Craig, J. E., Kitchner, T. E., Yang, Z., Su, Z., Luo, H., Chen, D., Ouyang, H., Flagg, K., Lin, D., Mao, G., Ferreyra, H., Stark, K., Von Strachwitz, C. N., Wolf, A., Brandl, C., Rudolph, G., Olden, M., Morrison, M. A., Morgan, D. J., Schu, M., Ahn, J., Silvestri, G., Tsironi, E. E., Park, K. H., Farrer, L. A., Orlin, A., Brucker, A., Li, M., Curcio, C. A., Mohand-Sa'd, S., Sahel, J. A., Audo, I., Benchaboune, M., Cree, A. J., Rennie, C. A., Goverdhan, S. V., Grunin, M., Hagbi-Levi, S., Campochiaro, P., Katsanis, E. N., Holz, F. G., Blond, F., Blanché, H., Deleuze, J. F. O., Igo, R. P., Truitt, B., Peachey, N. S., Meuer, S. M., Myers, C. E., Moore, E. L., Klein, R., Hauser, M. A., Postel, E. A., Courtenay, M. D., Schwartz, S. G., Kovach, J. L., Scott, W. K., Liew, G., Tan, A. G., Gopinath, B., Merriam, J. C., Smith, R. T., Khan, J. C., Shahid, H., Moore, A. T., McGrath, J. A., Laux, R., Brantley, M. A., Agarwal, A., Ersoy, L., Caramoy, A., Langmann, T., Saksens, N. T. M., Jong, E. K., Hoyng, C. B., Cain, M. S., Richardson, A. J., Martin, T. M., Blangero, J., Weeks, D. E., Dhillon, B., Van Duijn, C. M., Doheny, K. F., Romm, J., Klaver, C. C. W., Hayward, C., Gorin, M. B., Klein, M. L., Baird, P. N., Den Hollander, A. I., Fauser, S., WYates, J. R., Allikmets, R., Wang, J. J., Schaumberg, D. A., Klein, B. E. K., Hagstrom, S. A., Chowers, I., Lotery, A. J., Léveillard, T., Zhang, K., Brilliant, M. H., Hewitt, A. W., Swaroop, A., Chew, E. Y., Pericak-Vance, M. A., DeAngelis, M., Stambolian, D., Haines, J. L., Iyengar, S. K., Weber, B. H. F., Abecasis, G. R. & Heid, I. M., Feb 1 2016, In : Nature Genetics. 48, 2, p. 134-143 10 p.

Research output: Contribution to journalArticle

407 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 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

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
Open Access
2 Scopus citations

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

An evaluation of the draft human genome sequence

Katsanis, E. N., Worley, K. C. & Lupski, J. R., Sep 12 2001, In : Nature Genetics. 29, 1, p. 88-91 4 p.

Research output: Contribution to journalArticle

28 Scopus citations

An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon

Yulug, I. G., Katsanis, N., De Belleroche, J., Collinge, J. & Fisher, E. M. C., Jun 1 1995, In : Human molecular genetics. 4, 6, p. 1101-1104 4 p.

Research output: Contribution to journalArticle

62 Scopus citations

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

UK10K Rare Diseases Group, May 13 2016, In : Nature communications. 7, 11491.

Research output: Contribution to journalArticle

Open Access
89 Scopus citations

A novel C-terminal binding protein (CTBP2) is closely related to CTBP1, an adenovirus E1A-binding protein, and maps to human chromosome 21q21.3

Katsanis, E. N. & Fisher, E. M. C., Jan 15 1998, In : Genomics. 47, 2, p. 294-299 6 p.

Research output: Contribution to journalArticle

50 Scopus citations

A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS

Hall, G., Gbadegesin, R. A., Lavin, P., Wu, G., Liu, Y., Oh, E. C., Wang, L., Spurney, R. F., Eckel, J., Lindsey, T., Homstad, A., Malone, A. F., Phelan, P. J., Shaw, A., Howell, D. N., Conlon, P. J., Katsanis, E. N. & Winn, M. P., Apr 1 2015, In : Journal of the American Society of Nephrology. 26, 4, p. 831-843 13 p.

Research output: Contribution to journalArticle

Open Access
25 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

A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology

Migliavacca, E., Golzio, C., Männik, K., Blumenthal, I., Oh, E. C., Harewood, L., Kosmicki, J. A., Loviglio, M. N., Giannuzzi, G., Hippolyte, L., Maillard, A. M., Alfaiz, A. A., Witwicki, R., Didelot, G., Van Der Werf, I., Alfaiz, A. A., Zazhytska, M., Chrast, J., Macé, A., Bergmann, S. & 41 others, Kutalik, Z., Siffredi, V., Zufferey, F., Martinet, D., Bena, F., Rauch, A., Bouquillon, S., Delobel, B., Boute, O., Duban-Bedu, B., Le Caignec, C., Isidor, B., Chiesa, J., Keren, B., Gilbert-Dussardier, B., Touraine, R., Campion, D., Thambo, C. R., Mathieu-Dramard, M., Plessis, G., Kooy, F., Peeters, H., Ounap, K., Vulto-Van Silfhout, A. T., De Vries, B. B., Van Binsbergen, E., Nordgren, A., Mucciolo, M., Renieri, A., Rajcan-Separovic, E., Philipps, J. A., Ellis, R. J., Van Haelst, M. M., Andrieux, J., Gusella, J. F., Daly, M. J., Beckmann, J. S., Jacquemont, S., Talkowski, M. E., Katsanis, E. N. & Reymond, A., May 7 2015, In : American journal of human genetics. 96, 5, p. 784-796 13 p.

Research output: Contribution to journalArticle

Open Access
27 Scopus citations

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

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

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 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.

Research output: Contribution to journalArticle

Open Access
38 Scopus citations

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Loeys, B. L., Chen, J., Neptune, E. R., Judge, D. P., Podowski, M., Holm, T., Meyers, J., Leitch, C. C., Katsanis, E. N., Sharifi, N., Xu, F. L., Myers, L. A., Spevak, P. J., Cameron, D. E., De Backer, J., Hellemans, J., Chen, Y., Davis, E. C., Webb, C. L., Kress, W. & 4 others, Coucke, P., Rifkin, D. B., De Paepe, A. M. & Dietz, H. C., Dec 9 2005, In : Nature Genetics. 37, 3, p. 275-281 7 p.

Research output: Contribution to journalArticle

1107 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

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

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

FORGE Canada Consortium Canadian Rare Diseases: Models and Mechanisms Network, Jul 1 2017, In : Journal of medical genetics. 54, 7, p. 490-501 12 p.

Research output: Contribution to journalArticle

18 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.

Research output: Contribution to journalArticle

Open Access
73 Scopus citations

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

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

Ansley, S. J., Badano, J. L., Blacque, O. E., Hill, J., Hoskins, B. E., Leitch, C. C., Kim, J. C., Ross, A. J., Eichers, E. R., Teslovich, T. M., Mah, A. K., Johnsen, R. C., Cavender, J. C., Lewis, R. A., Leroux, M. R., Beales, P. L. & Katsanis, E. N., Oct 9 2003, In : Nature. 425, 6958, p. 628-633 6 p.

Research output: Contribution to journalArticle

480 Scopus citations

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

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

Katsanis, E. N., Eichers, E. R., Ansley, S. J., Lewis, R. A., Kayserili, H., Hoskins, B. E., Scambler, P. J., Beales, P. L. & Lupski, J. R., Jan 1 2002, In : American journal of human genetics. 71, 1, p. 22-29 8 p.

Research output: Contribution to journalArticle

Open Access
86 Scopus citations

BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1

Prieto-Echagüe, V., Lodh, S., Colman, L., Bobba, N., Santos, L., Katsanis, N., Escande, C., Zaghloul, N. A. & Badano, J. L., Dec 1 2017, In : Scientific reports. 7, 1, 9765.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

Muto, V., Flex, E., Kupchinsky, Z., Primiano, G., Galehdari, H., Dehghani, M., Cecchetti, S., Carpentieri, G., Rizza, T., Mazaheri, N., Sedaghat, A., Mehrjardi, M. Y. V., Traversa, A., Di Nottia, M., Kousi, M. M., Jamshidi, Y., Ciolfi, A., Caputo, V., Malamiri, R. A., Pantaleoni, F. & 11 others, Martinelli, S., Jeffries, A. R., Zeighami, J., Sherafat, A., Di Giuda, D., Shariati, G. R., Carrozzo, R., Katsanis, E. N., Maroofian, R., Servidei, S. & Tartaglia, M., Jan 1 2018, In : Neurology. 91, 4, p. E319-E330

Research output: Contribution to journalArticle

6 Scopus citations

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features

Ansar, M., Ullah, F., Paracha, S. A., Adams, D. J., Lai, A., Pais, L., Iwaszkiewicz, J., Millan, F., Sarwar, M. T., Agha, Z., Shah, S. F., Qaisar, A. A., Falconnet, E., Zoete, V., Ranza, E., Makrythanasis, P., Santoni, F. A., Ahmed, J., Katsanis, E. N., Walsh, C. & 2 others, Davis, E. E. & Antonarakis, S. E., Jun 6 2019, In : American journal of human genetics. 104, 6, p. 1073-1087 15 p.

Research output: Contribution to journalArticle

2 Scopus citations

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

Borck, G., Hög, F., Dentici, M. L., Tan, P. L., Sowada, N., Medeira, A., Gueneau, L., Thiele, H., Kousi, M., Lepri, F., Wenzeck, L., Blumenthal, I., Radicioni, A., Schwarzenberg, T. L., Mandriani, B., Fischetto, R., Morris-Rosendahl, D. J., Altmüller, J., Reymond, A., Nürnberg, P. & 5 others, Merla, G., Dallapiccola, B., Katsanis, E. N., Cramer, P. & Kubisch, C., Feb 1 2015, In : Genome research. 25, 2, p. 155-166 12 p.

Research output: Contribution to journalArticle

Open Access
51 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

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.

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Open Access
147 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

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

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

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.

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Open Access
52 Scopus citations

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study

Moore, S. J., Green, J. S., Fan, Y., Bhogal, A. K., Dicks, E., Fernandez, B. A., Stefanelli, M., Murphy, C., Cramer, B. C., Dean, J. C. S., Beales, P. L., Katsanis, E. N., Bassett, A. S., Davidson, W. S. & Parfrey, P. S., Feb 1 2005, In : American Journal of Medical Genetics. 132 A, 4, p. 352-360 9 p.

Research output: Contribution to journalArticle

165 Scopus citations

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

Wortmann, S. B., Ziętkiewicz, S., Kousi, M., Szklarczyk, R., Haack, T. B., Gersting, S. W., Muntau, A. C., Rakovic, A., Renkema, G. H., Rodenburg, R. J., Strom, T. M., Meitinger, T., Rubio-Gozalbo, M. E., Chrusciel, E., Distelmaier, F., Golzio, C., Jansen, J. H., Van Karnebeek, C., Lillquist, Y., Lücke, T. & 15 others, Õunap, K., Zordania, R., Yaplito-Lee, J., Van Bokhoven, H., Spelbrink, J. N., Vaz, F. M., Pras-Raves, M., Ploski, R., Pronicka, E., Klein, C., Willemsen, M. A. A. P., De Brouwer, A. P. M., Prokisch, H., Katsanis, E. N. & Wevers, R. A., Feb 5 2015, In : American journal of human genetics. 96, 2, p. 245-257 13 p.

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47 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

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.

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174 Scopus citations