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1,033 results

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Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Menezes MJ, Guo Y, Zhang J, Riley LG, Cooper ST, Thorburn DR, Li J, Dong D, Li Z, Glessner J, Davis RL, Sue CM, Alexander SI, Arbuckle S, Kirwan P, Keating BJ, Xu X, Hakonarson H, Christodoulou J. Menezes MJ, et al. Among authors: hakonarson h. Hum Mol Genet. 2015 Apr 15;24(8):2297-307. doi: 10.1093/hmg/ddu747. Epub 2015 Jan 2. Hum Mol Genet. 2015. PMID: 25556185
Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.
Behrens EM, Finkel TH, Bradfield JP, Kim CE, Linton L, Casalunovo T, Frackelton EC, Santa E, Otieno FG, Glessner JT, Chiavacci RM, Grant SF, Hakonarson H. Behrens EM, et al. Among authors: hakonarson h. Arthritis Rheum. 2008 Jul;58(7):2206-7. doi: 10.1002/art.23603. Arthritis Rheum. 2008. PMID: 18576341 Free article. No abstract available.
Modeling genetic inheritance of copy number variations.
Wang K, Chen Z, Tadesse MG, Glessner J, Grant SF, Hakonarson H, Bucan M, Li M. Wang K, et al. Among authors: hakonarson h. Nucleic Acids Res. 2008 Dec;36(21):e138. doi: 10.1093/nar/gkn641. Epub 2008 Oct 2. Nucleic Acids Res. 2008. PMID: 18832372 Free PMC article.
Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease.
Wang K, Zhang H, Kugathasan S, Annese V, Bradfield JP, Russell RK, Sleiman PM, Imielinski M, Glessner J, Hou C, Wilson DC, Walters T, Kim C, Frackelton EC, Lionetti P, Barabino A, Van Limbergen J, Guthery S, Denson L, Piccoli D, Li M, Dubinsky M, Silverberg M, Griffiths A, Grant SF, Satsangi J, Baldassano R, Hakonarson H. Wang K, et al. Among authors: hakonarson h. Am J Hum Genet. 2009 Mar;84(3):399-405. doi: 10.1016/j.ajhg.2009.01.026. Epub 2009 Feb 26. Am J Hum Genet. 2009. PMID: 19249008 Free PMC article.
Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.
Capasso M, Devoto M, Hou C, Asgharzadeh S, Glessner JT, Attiyeh EF, Mosse YP, Kim C, Diskin SJ, Cole KA, Bosse K, Diamond M, Laudenslager M, Winter C, Bradfield JP, Scott RH, Jagannathan J, Garris M, McConville C, London WB, Seeger RC, Grant SF, Li H, Rahman N, Rappaport E, Hakonarson H, Maris JM. Capasso M, et al. Among authors: hakonarson h. Nat Genet. 2009 Jun;41(6):718-23. doi: 10.1038/ng.374. Epub 2009 May 3. Nat Genet. 2009. PMID: 19412175 Free PMC article.
The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI.
Zhao J, Bradfield JP, Li M, Wang K, Zhang H, Kim CE, Annaiah K, Glessner JT, Thomas K, Garris M, Frackelton EC, Otieno FG, Shaner JL, Smith RM, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF. Zhao J, et al. Among authors: hakonarson h. Obesity (Silver Spring). 2009 Dec;17(12):2254-7. doi: 10.1038/oby.2009.159. Epub 2009 May 28. Obesity (Silver Spring). 2009. PMID: 19478790 Free PMC article.
A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.
Grant SF, Wang K, Zhang H, Glaberson W, Annaiah K, Kim CE, Bradfield JP, Glessner JT, Thomas KA, Garris M, Frackelton EC, Otieno FG, Chiavacci RM, Nah HD, Kirschner RE, Hakonarson H. Grant SF, et al. Among authors: hakonarson h. J Pediatr. 2009 Dec;155(6):909-13. doi: 10.1016/j.jpeds.2009.06.020. Epub 2009 Aug 4. J Pediatr. 2009. PMID: 19656524
1,033 results