Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

1,782 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.
Lim ET, Liu YP, Chan Y, Tiinamaija T, Käräjämäki A, Madsen E; Go-T2D Consortium; Altshuler DM, Raychaudhuri S, Groop L, Flannick J, Hirschhorn JN, Katsanis N, Daly MJ. Lim ET, et al. Among authors: liu yp. Am J Hum Genet. 2014 Nov 6;95(5):509-20. doi: 10.1016/j.ajhg.2014.09.015. Epub 2014 Oct 16. Am J Hum Genet. 2014. PMID: 25439097 Free PMC article.
Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma.
Carnes MU, Liu YP, Allingham RR, Whigham BT, Havens S, Garrett ME, Qiao C; NEIGHBORHOOD Consortium Investigators; Katsanis N, Wiggs JL, Pasquale LR, Ashley-Koch A, Oh EC, Hauser MA. Carnes MU, et al. Among authors: liu yp. PLoS Genet. 2014 May 29;10(5):e1004372. doi: 10.1371/journal.pgen.1004372. eCollection 2014. PLoS Genet. 2014. PMID: 24875647 Free PMC article.
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
Frosk P, Arts HH, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP; FORGE Canada Consortium; Canadian Rare Diseases: Models & Mechanisms Network,; Hegele R, Katsanis N, Goerz C, Del Bigio MR, Davis EE. Frosk P, et al. Among authors: liu yp. J Med Genet. 2017 Jul;54(7):490-501. doi: 10.1136/jmedgenet-2016-104296. Epub 2017 Mar 6. J Med Genet. 2017. PMID: 28264986 Free PMC article.
Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.
Gascue C, Tan PL, Cardenas-Rodriguez M, Libisch G, Fernandez-Calero T, Liu YP, Astrada S, Robello C, Naya H, Katsanis N, Badano JL. Gascue C, et al. Among authors: liu yp. J Cell Sci. 2012 Jan 15;125(Pt 2):362-75. doi: 10.1242/jcs.089375. Epub 2012 Feb 2. J Cell Sci. 2012. PMID: 22302990 Free PMC article.
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C. Nishiguchi KM, et al. Among authors: liu yp. Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16139-44. doi: 10.1073/pnas.1308243110. Epub 2013 Sep 16. Proc Natl Acad Sci U S A. 2013. PMID: 24043777 Free PMC article.
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. 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.
A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS.
Hall G, Gbadegesin RA, Lavin P, Wu G, Liu Y, Oh EC, Wang L, Spurney RF, Eckel J, Lindsey T, Homstad A, Malone AF, Phelan PJ, Shaw A, Howell DN, Conlon PJ, Katsanis N, Winn MP. Hall G, et al. J Am Soc Nephrol. 2015 Apr;26(4):831-43. doi: 10.1681/ASN.2013101053. Epub 2014 Aug 21. J Am Soc Nephrol. 2015. PMID: 25145932 Free PMC article.
1,782 results