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1,032 results

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Page 1
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stülpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hörtnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ. Li D, et al. Among authors: hakonarson h. Am J Hum Genet. 2016 Oct 6;99(4):802-816. doi: 10.1016/j.ajhg.2016.07.013. Epub 2016 Sep 8. Am J Hum Genet. 2016. PMID: 27616483 Free PMC article.
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.
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.
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
The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, Sleiman PM, Kim CE, Glessner JT, Hou C, Keating BJ, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF. Zhao J, et al. Among authors: hakonarson h. BMC Med Genet. 2010 Jun 14;11:96. doi: 10.1186/1471-2350-11-96. BMC Med Genet. 2010. PMID: 20546612 Free PMC article.
A genome-wide study reveals copy number variants exclusive to childhood obesity cases.
Glessner JT, Bradfield JP, Wang K, Takahashi N, Zhang H, Sleiman PM, Mentch FD, Kim CE, Hou C, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Zhao J, Chiavacci RM, Li M, Buxbaum JD, Berkowitz RI, Hakonarson H, Grant SF. Glessner JT, et al. Among authors: hakonarson h. Am J Hum Genet. 2010 Nov 12;87(5):661-6. doi: 10.1016/j.ajhg.2010.09.014. Epub 2010 Oct 14. Am J Hum Genet. 2010. PMID: 20950786 Free PMC article.
Neutral mitochondrial heteroplasmy and the influence of aging.
Sondheimer N, Glatz CE, Tirone JE, Deardorff MA, Krieger AM, Hakonarson H. Sondheimer N, et al. Among authors: hakonarson h. Hum Mol Genet. 2011 Apr 15;20(8):1653-9. doi: 10.1093/hmg/ddr043. Epub 2011 Feb 4. Hum Mol Genet. 2011. PMID: 21296868 Free PMC article.
Genome-wide association identifies diverse causes of common variable immunodeficiency.
Orange JS, Glessner JT, Resnick E, Sullivan KE, Lucas M, Ferry B, Kim CE, Hou C, Wang F, Chiavacci R, Kugathasan S, Sleasman JW, Baldassano R, Perez EE, Chapel H, Cunningham-Rundles C, Hakonarson H. Orange JS, et al. Among authors: hakonarson h. J Allergy Clin Immunol. 2011 Jun;127(6):1360-7.e6. doi: 10.1016/j.jaci.2011.02.039. Epub 2011 Apr 17. J Allergy Clin Immunol. 2011. PMID: 21497890 Free PMC article.
Role of BMI-associated loci identified in GWAS meta-analyses in the context of common childhood obesity in European Americans.
Zhao J, Bradfield JP, Zhang H, Sleiman PM, Kim CE, Glessner JT, Deliard S, Thomas KA, Frackelton EC, Li M, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF. Zhao J, et al. Among authors: hakonarson h. Obesity (Silver Spring). 2011 Dec;19(12):2436-9. doi: 10.1038/oby.2011.237. Epub 2011 Jul 21. Obesity (Silver Spring). 2011. PMID: 21779088 Free article.
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
Bradfield JP, Qu HQ, Wang K, Zhang H, Sleiman PM, Kim CE, Mentch FD, Qiu H, Glessner JT, Thomas KA, Frackelton EC, Chiavacci RM, Imielinski M, Monos DS, Pandey R, Bakay M, Grant SF, Polychronakos C, Hakonarson H. Bradfield JP, et al. Among authors: hakonarson h. PLoS Genet. 2011 Sep;7(9):e1002293. doi: 10.1371/journal.pgen.1002293. Epub 2011 Sep 29. PLoS Genet. 2011. PMID: 21980299 Free PMC article.
1,032 results