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A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.
Chen Y, Gilbert MA, Grochowski CM, McEldrew D, Llewellyn J, Waisbourd-Zinman O, Hakonarson H, Bailey-Wilson JE, Russo P, Wells RG, Loomes KM, Spinner NB, Devoto M. Chen Y, et al. Among authors: hakonarson h. PLoS Genet. 2018 Aug 13;14(8):e1007532. doi: 10.1371/journal.pgen.1007532. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30102696 Free PMC article.
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
Hakonarson H, Grant SF, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Lawson ML, Robinson LJ, Skraban R, Lu Y, Chiavacci RM, Stanley CA, Kirsch SE, Rappaport EF, Orange JS, Monos DS, Devoto M, Qu HQ, Polychronakos C. Hakonarson H, et al. Nature. 2007 Aug 2;448(7153):591-4. doi: 10.1038/nature06010. Epub 2007 Jul 15. Nature. 2007. PMID: 17632545
A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study.
Hakonarson H, Qu HQ, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Eckert AW, Annaiah K, Lawson ML, Otieno FG, Santa E, Shaner JL, Smith RM, Onyiah CC, Skraban R, Chiavacci RM, Robinson LJ, Stanley CA, Kirsch SE, Devoto M, Monos DS, Grant SF, Polychronakos C. Hakonarson H, et al. Diabetes. 2008 Apr;57(4):1143-6. doi: 10.2337/db07-1305. Epub 2008 Jan 15. Diabetes. 2008. PMID: 18198356
Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
Maris JM, Mosse YP, Bradfield JP, Hou C, Monni S, Scott RH, Asgharzadeh S, Attiyeh EF, Diskin SJ, Laudenslager M, Winter C, Cole KA, Glessner JT, Kim C, Frackelton EC, Casalunovo T, Eckert AW, Capasso M, Rappaport EF, McConville C, London WB, Seeger RC, Rahman N, Devoto M, Grant SF, Li H, Hakonarson H. Maris JM, et al. Among authors: hakonarson h. N Engl J Med. 2008 Jun 12;358(24):2585-93. doi: 10.1056/NEJMoa0708698. Epub 2008 May 7. N Engl J Med. 2008. PMID: 18463370 Free PMC article.
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.
Deardorff MA, Gaddipati H, Kaplan P, Sanchez-Lara PA, Sondheimer N, Spinner NB, Hakonarson H, Ficicioglu C, Ganesh J, Markello T, Loechelt B, Zand DJ, Yudkoff M, Lichter-Konecki U. Deardorff MA, et al. Among authors: hakonarson h. Mol Genet Metab. 2008 Aug;94(4):498-502. doi: 10.1016/j.ymgme.2008.04.011. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18524659 Free PMC article.
Identification of ALK as a major familial neuroblastoma predisposition gene.
Mossé YP, Laudenslager M, Longo L, Cole KA, Wood A, Attiyeh EF, Laquaglia MJ, Sennett R, Lynch JE, Perri P, Laureys G, Speleman F, Kim C, Hou C, Hakonarson H, Torkamani A, Schork NJ, Brodeur GM, Tonini GP, Rappaport E, Devoto M, Maris JM. Mossé YP, et al. Among authors: hakonarson h. Nature. 2008 Oct 16;455(7215):930-5. doi: 10.1038/nature07261. Epub 2008 Aug 24. Nature. 2008. PMID: 18724359 Free PMC article.
Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
Grant SF, Qu HQ, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Taback SP, Frackelton EC, Eckert AW, Annaiah K, Lawson ML, Otieno FG, Santa E, Shaner JL, Smith RM, Skraban R, Imielinski M, Chiavacci RM, Grundmeier RW, Stanley CA, Kirsch SE, Waggott D, Paterson AD, Monos DS; DCCT/EDIC Research Group; Polychronakos C, Hakonarson H. Grant SF, et al. Among authors: hakonarson h. Diabetes. 2009 Jan;58(1):290-5. doi: 10.2337/db08-1022. Epub 2008 Oct 7. Diabetes. 2009. PMID: 18840781 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.
1,023 results