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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

1,451 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.
Bayram Y, Gulsuner S, Guran T, Abaci A, Yesil G, Gulsuner HU, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, Pehlivan D, Jhangiani SN, Muzny D, Bereket A, Buyukgebiz A, Boerwinkle E, Gibbs RA, King MC, Lupski JR. Bayram Y, et al. Among authors: boerwinkle e. J Clin Endocrinol Metab. 2015 May;100(5):E808-14. doi: 10.1210/jc.2015-1150. Epub 2015 Mar 16. J Clin Endocrinol Metab. 2015. PMID: 25774885 Free PMC article.
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.
Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA; Centers for Mendelian Genomics. Bamshad MJ, et al. Among authors: boerwinkle e. Am J Med Genet A. 2012 Jul;158A(7):1523-5. doi: 10.1002/ajmg.a.35470. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628075 Free PMC article.
Whole-genome sequence-based analysis of high-density lipoprotein cholesterol.
Morrison AC, Voorman A, Johnson AD, Liu X, Yu J, Li A, Muzny D, Yu F, Rice K, Zhu C, Bis J, Heiss G, O'Donnell CJ, Psaty BM, Cupples LA, Gibbs R, Boerwinkle E; Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium. Morrison AC, et al. Among authors: boerwinkle e. Nat Genet. 2013 Aug;45(8):899-901. doi: 10.1038/ng.2671. Epub 2013 Jun 16. Nat Genet. 2013. PMID: 23770607 Free PMC article.
Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.
Gonzaga-Jauregui C, Lotze T, Jamal L, Penney S, Campbell IM, Pehlivan D, Hunter JV, Woodbury SL, Raymond G, Adesina AM, Jhangiani SN, Reid JG, Muzny DM, Boerwinkle E, Lupski JR, Gibbs RA, Wiszniewski W. Gonzaga-Jauregui C, et al. Among authors: boerwinkle e. JAMA Neurol. 2013 Dec;70(12):1491-8. doi: 10.1001/jamaneurol.2013.4598. JAMA Neurol. 2013. PMID: 24126608 Free PMC article.
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.
Shalev SA, Tenenbaum-Rakover Y, Horovitz Y, Paz VP, Ye H, Carmody D, Highland HM, Boerwinkle E, Hanis CL, Muzny DM, Gibbs RA, Bell GI, Philipson LH, Greeley SA. Shalev SA, et al. Among authors: boerwinkle e. Pediatr Diabetes. 2014 May;15(3):252-6. doi: 10.1111/pedi.12086. Epub 2013 Oct 21. Pediatr Diabetes. 2014. PMID: 24138066 Free PMC article.
Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study.
Lin H, Sinner MF, Brody JA, Arking DE, Lunetta KL, Rienstra M, Lubitz SA, Magnani JW, Sotoodehnia N, McKnight B, McManus DD, Boerwinkle E, Psaty BM, Rotter JI, Bis JC, Gibbs RA, Muzny D, Kovar CL, Morrison AC, Gupta M, Folsom AR, Kääb S, Heckbert SR, Alonso A, Ellinor PT, Benjamin EJ; CHARGE Atrial Fibrillation Working Group. Lin H, et al. Among authors: boerwinkle e. Heart Rhythm. 2014 Mar;11(3):452-7. doi: 10.1016/j.hrthm.2013.11.012. Epub 2013 Nov 14. Heart Rhythm. 2014. PMID: 24239840 Free PMC article.
Neutral genomic regions refine models of recent rapid human population growth.
Gazave E, Ma L, Chang D, Coventry A, Gao F, Muzny D, Boerwinkle E, Gibbs RA, Sing CF, Clark AG, Keinan A. Gazave E, et al. Among authors: boerwinkle e. Proc Natl Acad Sci U S A. 2014 Jan 14;111(2):757-62. doi: 10.1073/pnas.1310398110. Epub 2013 Dec 30. Proc Natl Acad Sci U S A. 2014. PMID: 24379384 Free PMC article.
1,451 results