Elias Nicholas Katsanis

  • 23321 Citations
19952020

Research output per year

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Research Output

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Review article
2019

Genetics and functions of the retinoic acid pathway, with special emphasis on the eye

Thompson, B., Katsanis, N., Apostolopoulos, N., Thompson, D. C., Nebert, D. W. & Vasiliou, V., Dec 3 2019, In : Human genomics. 13, 1, 61.

Research output: Contribution to journalReview article

Open Access
2018

The complexity of the cilium: spatiotemporal diversityof an ancient organelle

Heydeck, W., Fievet, L., Davis, E. E. & Katsanis, E. N., Dec 2018, In : Current Opinion in Cell Biology. 55, p. 139-149 11 p.

Research output: Contribution to journalReview article

6 Scopus citations
2016

AMD and the alternative complement pathway: genetics and functional implications

Tan, P. L., Bowes Rickman, C. & Katsanis, E. N., Jun 21 2016, In : Human genomics. 10, 1, 1 p.

Research output: Contribution to journalReview article

Open Access
23 Scopus citations

Gene expression elucidates functional impact of polygenic risk for schizophrenia

Fromer, M., Roussos, P., Sieberts, S. K., Johnson, J. S., Kavanagh, D. H., Perumal, T. M., Ruderfer, D. M., Oh, E. C., Topol, A., Shah, H. R., Klei, L. L., Kramer, R., Pinto, D., Gümüş, Z. H., Cicek, A. E., Dang, K. K., Browne, A., Lu, C., Xie, L., Readhead, B. & 38 others, Stahl, E. A., Xiao, J., Parvizi, M., Hamamsy, T., Fullard, J. F., Wang, Y. C., Mahajan, M. C., Derry, J. M. J., Dudley, J. T., Hemby, S. E., Logsdon, B. A., Talbot, K., Raj, T., Bennett, D. A., De Jager, P. L., Zhu, J., Zhang, B., Sullivan, P. F., Chess, A., Purcell, S. M., Shinobu, L. A., Mangravite, L. M., Toyoshiba, H., Gur, R. E., Hahn, C. G., Lewis, D. A., Haroutunian, V., Peters, M. A., Lipska, B. K., Buxbaum, J. D., Schadt, E. E., Hirai, K., Roeder, K., Brennand, K. J., Katsanis, E. N., Domenici, E., Devlin, B. & Sklar, P., Oct 26 2016, In : Nature neuroscience. 19, 11, p. 1442-1453 12 p.

Research output: Contribution to journalReview article

299 Scopus citations
2015

Metabolic regulation and energy homeostasis through the primary cilium

Oh, E. C., Vasanth, S. & Katsanis, E. N., Jan 6 2015, In : Cell Metabolism. 21, 1, p. 21-31 11 p.

Research output: Contribution to journalReview article

Open Access
36 Scopus citations

Newborn screening and the era of medical genomics

Francescatto, L. & Katsanis, E. N., Dec 2015, In : Seminars in Perinatology. 39, 8, p. 617-622 6 p.

Research output: Contribution to journalReview article

12 Scopus citations
2014

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
2013

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

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

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

196 Scopus citations
2012

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

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

99 Scopus citations
2011

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

754 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
2010

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
2009

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
259 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
479 Scopus citations
2006

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
2005

Microtubule transport defects in neurological and ciliary disease

Gerdes, J. M. & Katsanis, E. N., Jul 1 2005, In : Cellular and Molecular Life Sciences. 62, 14, p. 1556-1570 15 p.

Research output: Contribution to journalReview article

29 Scopus citations

The centrosome in human genetic disease

Badano, J. L., Teslovich, T. M. & Katsanis, E. N., Mar 1 2005, In : Nature Reviews Genetics. 6, 3, p. 194-205 12 p.

Research output: Contribution to journalReview article

188 Scopus citations
2004

The oligogenic properties of Bardet-Biedl syndrome

Katsanis, E. N., Apr 1 2004, In : Human molecular genetics. 13, REV. ISS. 1

Research output: Contribution to journalReview article

162 Scopus citations

Triallelic inheritance: A bridge between Mendelian and multifactorial traits

Eichers, E. R., Lewis, R. A., Katsanis, E. N. & Lupski, J. R., Jun 30 2004, In : Annals of Medicine. 36, 4, p. 262-272 11 p.

Research output: Contribution to journalReview article

40 Scopus citations
2002

Beyond mendel: An evolving view of human genetic disease transmission

Badano, J. L. & Katsanis, E. N., Oct 1 2002, In : Nature Reviews Genetics. 3, 10, p. 779-789 11 p.

Research output: Contribution to journalReview article

260 Scopus citations
2001

Exploring the molecular basis of Bardet-Biedl syndrome

Katsanis, E. N., Lupski, J. R. & Beales, P. L., Oct 1 2001, In : Human molecular genetics. 10, 20, p. 2293-2299 7 p.

Research output: Contribution to journalReview article

114 Scopus citations