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Functional impact of global rare copy number variation in autism spectrum disorders.
Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Rensha… See abstract for full author list ➔ Pinto D, et al. Among authors: hakonarson h. Nature. 2010 Jul 15;466(7304):368-72. doi: 10.1038/nature09146. Epub 2010 Jun 9. Nature. 2010. PMID: 20531469 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
Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP.
Grant SF, Li M, Bradfield JP, Kim CE, Annaiah K, Santa E, Glessner JT, Casalunovo T, Frackelton EC, Otieno FG, Shaner JL, Smith RM, Imielinski M, Eckert AW, Chiavacci RM, Berkowitz RI, Hakonarson H. Grant SF, et al. Among authors: hakonarson h. PLoS One. 2008 Mar 12;3(3):e1746. doi: 10.1371/journal.pone.0001746. PLoS One. 2008. PMID: 18335027 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.
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.
Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.
Kugathasan S, Baldassano RN, Bradfield JP, Sleiman PM, Imielinski M, Guthery SL, Cucchiara S, Kim CE, Frackelton EC, Annaiah K, Glessner JT, Santa E, Willson T, Eckert AW, Bonkowski E, Shaner JL, Smith RM, Otieno FG, Peterson N, Abrams DJ, Chiavacci RM, Grundmeier R, Mamula P, Tomer G, Piccoli DA, Monos DS, Annese V, Denson LA, Grant SF, Hakonarson H. Kugathasan S, et al. Among authors: hakonarson h. Nat Genet. 2008 Oct;40(10):1211-5. doi: 10.1038/ng.203. Epub 2008 Aug 31. Nat Genet. 2008. PMID: 18758464 Free PMC article.
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.
1,029 results