Davis EE - Search Results

1

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.

Khan TN, Khan K, Sadeghpour A, Reynolds H, Perilla Y, McDonald MT, Gallentine WB, Baig SM; Task Force for Neonatal Genomics; Davis EE, Katsanis N. Khan TN, et al. Among authors: davis ee. Am J Hum Genet. 2019 Jan 3;104(1):94-111. doi: 10.1016/j.ajhg.2018.11.017. Am J Hum Genet. 2019. PMID: 30609410 Free PMC article.

2

The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle.

Davis EE, Brueckner M, Katsanis N. Davis EE, et al. Dev Cell. 2006 Jul;11(1):9-19. doi: 10.1016/j.devcel.2006.06.009. Dev Cell. 2006. PMID: 16824949 Free article. Review.

3

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia.

Gherman A, Davis EE, Katsanis N. Gherman A, et al. Among authors: davis ee. Nat Genet. 2006 Sep;38(9):961-2. doi: 10.1038/ng0906-961. Nat Genet. 2006. PMID: 16940995 No abstract available.

4

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 EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H. Stoetzel C, et al. Among authors: davis ee. Am J Hum Genet. 2007 Jan;80(1):1-11. doi: 10.1086/510256. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160889 Free PMC article.

5

Cell polarization defects in early heart development.

Davis EE, Katsanis N. Davis EE, et al. Circ Res. 2007 Jul 20;101(2):122-4. doi: 10.1161/CIRCRESAHA.107.157446. Circ Res. 2007. PMID: 17641235 No abstract available.

6

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

Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N. Leitch CC, et al. Among authors: davis ee. Nat Genet. 2008 Apr;40(4):443-8. doi: 10.1038/ng.97. Epub 2008 Mar 9. Nat Genet. 2008. PMID: 18327255

7

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D. Gorden NT, et al. Among authors: davis ee. Am J Hum Genet. 2008 Nov;83(5):559-71. doi: 10.1016/j.ajhg.2008.10.002. Epub 2008 Oct 23. Am J Hum Genet. 2008. PMID: 18950740 Free PMC article.

8

The vertebrate primary cilium in development, homeostasis, and disease.

Gerdes JM, Davis EE, Katsanis N. Gerdes JM, et al. Among authors: davis ee. Cell. 2009 Apr 3;137(1):32-45. doi: 10.1016/j.cell.2009.03.023. Cell. 2009. PMID: 19345185 Free PMC article. Review.

9

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Janssen S, Ramaswami G, Davis EE, Hurd T, Airik R, Kasanuki JM, Van Der Kraak L, Allen SJ, Beales PL, Katsanis N, Otto EA, Hildebrandt F. Janssen S, et al. Among authors: davis ee. Hum Genet. 2011 Jan;129(1):79-90. doi: 10.1007/s00439-010-0902-8. Epub 2010 Oct 30. Hum Genet. 2011. PMID: 21052717 Free PMC article.

10

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG; NISC Comparative Sequencing Program; Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N. Davis EE, et al. Nat Genet. 2011 Mar;43(3):189-96. doi: 10.1038/ng.756. Epub 2011 Jan 23. Nat Genet. 2011. PMID: 21258341 Free PMC article.

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