Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2012 | 1 |
2013 | 1 |
2014 | 2 |
2019 | 1 |
2024 | 0 |
Search Results
5 results
Results by year
Filters applied: . Clear all
Page 1
Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies.
JCI Insight. 2019 Nov 14;4(22):e130516. doi: 10.1172/jci.insight.130516.
JCI Insight. 2019.
PMID: 31723061
Free PMC article.
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Lindstrand A, Davis EE, Carvalho CM, Pehlivan D, Willer JR, Tsai IC, Ramanathan S, Zuppan C, Sabo A, Muzny D, Gibbs R, Liu P, Lewis RA, Banin E, Lupski JR, Clark R, Katsanis N.
Lindstrand A, et al.
Am J Hum Genet. 2014 May 1;94(5):745-54. doi: 10.1016/j.ajhg.2014.03.017. Epub 2014 Apr 17.
Am J Hum Genet. 2014.
PMID: 24746959
Free PMC article.
Item in Clipboard
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
Liu YP, Tsai IC, Morleo M, Oh EC, Leitch CC, Massa F, Lee BH, Parker DS, Finley D, Zaghloul NA, Franco B, Katsanis N.
Liu YP, et al.
J Clin Invest. 2014 May;124(5):2059-70. doi: 10.1172/JCI71898. Epub 2014 Apr 1.
J Clin Invest. 2014.
PMID: 24691443
Free PMC article.
Item in Clipboard
In vivo modeling of the morbid human genome using Danio rerio.
Niederriter AR, Davis EE, Golzio C, Oh EC, Tsai IC, Katsanis N.
Niederriter AR, et al.
J Vis Exp. 2013 Aug 24;(78):e50338. doi: 10.3791/50338.
J Vis Exp. 2013.
PMID: 23995499
Free PMC article.
Item in Clipboard
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.
McIntyre JC, Davis EE, Joiner A, Williams CL, Tsai IC, Jenkins PM, McEwen DP, Zhang L, Escobado J, Thomas S, Szymanska K, Johnson CA, Beales PL, Green ED, Mullikin JC; NISC Comparative Sequencing Program; Sabo A, Muzny DM, Gibbs RA, Attié-Bitach T, Yoder BK, Reed RR, Katsanis N, Martens JR.
McIntyre JC, et al.
Nat Med. 2012 Sep;18(9):1423-8. doi: 10.1038/nm.2860.
Nat Med. 2012.
PMID: 22941275
Free PMC article.
Item in Clipboard
Cite
Cite