Elias Nicholas Katsanis

  • 23321 Citations
19952020

Research output per year

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Research Output

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Comment/debate
2019
Open Access
3 Scopus citations
2018

2017 Curt Stern Award: The Complexity of Simple Genetics1

Katsanis, E. N., Mar 1 2018, In : American Journal of Human Genetics. 102, 3, p. 355-358 4 p.

Research output: Contribution to journalComment/debate

Open Access
2017

Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003))

Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., Sanders, S. J., Lehmann, A., Latypova, X., Khan, K., Pacault, M., Sacharow, S., Glaser, K., Bieth, E., Perrin-Sabourin, L., Jacquemont, M. L., Cho, M. T., Roeder, E. & 41 others, Denommé-Pichon, A. S., Monaghan, K. G., Yuan, B., Xia, F., Simon, S., Bonneau, D., Parent, P., Gilbert-Dussardier, B., Odent, S., Toutain, A., Pasquier, L., Barbouth, D., Shaw, C. A., Patel, A., Smith, J. L., Bi, W., Schmitt, S., Deb, W., Nizon, M., Mercier, S., Vincent, M., Rooryck, C., Malan, V., Briceño, I., Gómez, A., Nugent, K. M., Gibson, J. B., Cogné, B., Lupski, J. R., Stessman, H. A. F., Eichler, E. E., Retterer, K., Yang, Y., Redon, R., Katsanis, N., Rosenfeld, J. A., Kloetzel, P. M., Golzio, C., Bézieau, S., Stankiewicz, P. & Isidor, B., Apr 6 2017, In : American journal of human genetics. 100, 4, 1 p.

Research output: Contribution to journalComment/debate

Open Access
2 Scopus citations
Open Access
6 Scopus citations
2016

Mitochondrial copy number as a biomarker for autism?

Golzio, C. & Katsanis, E. N., Apr 1 2016, In : Pediatrics. 137, 4

Research output: Contribution to journalComment/debate

Open Access
2 Scopus citations
2015

Errata: BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies (Genome Research (2015) 25 (155-166))

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, N., Cramer, P. & Kubisch, C., Apr 1 2015, In : Genome research. 25, 4, 1 p.

Research output: Contribution to journalComment/debate

4 Scopus citations
2013

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
2011

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
2010

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
2009

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
2008

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
2006

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
2005

Erratum: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates (Nature Genetics (2005) 37 (1135-1140))

Ross, A. J., May-Simera, H., Eichers, E. R., Kai, M., Hill, J., Jagger, D. J., Leitch, C. C., Chapple, J. P., Munro, P. M., Fisher, S., Tan, P. L., Phillips, H. M., Leroux, M. R., Henderson, D. J., Murdoch, J. N., Copp, A. J., Eliot, M. M., Lupski, J. R., Kemp, D. T., Dollfus, H. & 4 others, Tada, M., Katsanis, E. N., Forge, A. & Beales, P. L., Dec 1 2005, In : Nature Genetics. 37, 12, 1 p.

Research output: Contribution to journalComment/debate

1995

An improved protocol for the analysis of SODI gene mutations, and a new mutation in exon 4

Yulug, I. G., Katsanis, E. N., De Belleroche, J., Collinge, J. & Fisher, E. M. C., Aug 1 1995, In : Human molecular genetics. 4, 8, 1 p.

Research output: Contribution to journalComment/debate

Open Access

Erratum: An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4 (Human Molecular Genetics 4 (1101-1104))

Yulug, I. G., Katsanis, E. N., De Belleroche, J., Collinge, J. & Fisher, E. M. C., Jan 1 1995, In : Human molecular genetics. 4, 8, 1 p.

Research output: Contribution to journalComment/debate