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

111,878 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Whole-genome sequencing of the world's oldest people.
Gierman HJ, Fortney K, Roach JC, Coles NS, Li H, Glusman G, Markov GJ, Smith JD, Hood L, Coles LS, Kim SK. Gierman HJ, et al. Among authors: li h. PLoS One. 2014 Nov 12;9(11):e112430. doi: 10.1371/journal.pone.0112430. eCollection 2014. PLoS One. 2014. PMID: 25390934 Free PMC article.
Relationship estimation from whole-genome sequence data.
Li H, Glusman G, Hu H, Shankaracharya, Caballero J, Hubley R, Witherspoon D, Guthery SL, Mauldin DE, Jorde LB, Hood L, Roach JC, Huff CD. Li H, et al. PLoS Genet. 2014 Jan 30;10(1):e1004144. doi: 10.1371/journal.pgen.1004144. eCollection 2014 Jan. PLoS Genet. 2014. PMID: 24497848 Free PMC article.
Population-specific genetic modification of Huntington's disease in Venezuela.
Chao MJ, Kim KH, Shin JW, Lucente D, Wheeler VC, Li H, Roach JC, Hood L, Wexler NS, Jardim LB, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, Gusella JF, Lee JM. Chao MJ, et al. Among authors: li h. PLoS Genet. 2018 May 11;14(5):e1007274. doi: 10.1371/journal.pgen.1007274. eCollection 2018 May. PLoS Genet. 2018. PMID: 29750799 Free PMC article.
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.
Hu H, Roach JC, Coon H, Guthery SL, Voelkerding KV, Margraf RL, Durtschi JD, Tavtigian SV, Shankaracharya, Wu W, Scheet P, Wang S, Xing J, Glusman G, Hubley R, Li H, Garg V, Moore B, Hood L, Galas DJ, Srivastava D, Reese MG, Jorde LB, Yandell M, Huff CD. Hu H, et al. Among authors: li h. Nat Biotechnol. 2014 Jul;32(7):663-9. doi: 10.1038/nbt.2895. Epub 2014 May 18. Nat Biotechnol. 2014. PMID: 24837662 Free PMC article.
Sequence-Level Analysis of the Major European Huntington Disease Haplotype.
Lee JM, Kim KH, Shin A, Chao MJ, Abu Elneel K, Gillis T, Mysore JS, Kaye JA, Zahed H, Kratter IH, Daub AC, Finkbeiner S, Li H, Roach JC, Goodman N, Hood L, Myers RH, MacDonald ME, Gusella JF. Lee JM, et al. Among authors: li h. Am J Hum Genet. 2015 Sep 3;97(3):435-44. doi: 10.1016/j.ajhg.2015.07.017. Epub 2015 Aug 27. Am J Hum Genet. 2015. PMID: 26320893 Free PMC article.
Mutations in NOTCH1 cause Adams-Oliver syndrome.
Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS. Stittrich AB, et al. Among authors: li h. Am J Hum Genet. 2014 Sep 4;95(3):275-84. doi: 10.1016/j.ajhg.2014.07.011. Epub 2014 Aug 14. Am J Hum Genet. 2014. PMID: 25132448 Free PMC article.
A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51.
Ameziane N, May P, Haitjema A, van de Vrugt HJ, van Rossum-Fikkert SE, Ristic D, Williams GJ, Balk J, Rockx D, Li H, Rooimans MA, Oostra AB, Velleuer E, Dietrich R, Bleijerveld OB, Maarten Altelaar AF, Meijers-Heijboer H, Joenje H, Glusman G, Roach J, Hood L, Galas D, Wyman C, Balling R, den Dunnen J, de Winter JP, Kanaar R, Gelinas R, Dorsman JC. Ameziane N, et al. Among authors: li h. Nat Commun. 2015 Dec 18;6:8829. doi: 10.1038/ncomms9829. Nat Commun. 2015. PMID: 26681308 Free PMC article.
A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family.
He Y, Zeng K, Zhang X, Chen Q, Wu J, Li H, Zhou Y, Glusman G, Roach J, Etheridge A, Qing S, Tian Q, Lee I, Tian X, Wang X, Wu Z, Hood L, Ding Y, Wang K. He Y, et al. Among authors: li h. J Invest Dermatol. 2015 Mar;135(3):907-909. doi: 10.1038/jid.2014.429. Epub 2014 Oct 6. J Invest Dermatol. 2015. PMID: 25285920 Free article. No abstract available.
111,878 results
You have reached the last available page of results. Please see the User Guide for more information.