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A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.
Chang D, Nalls MA, Hallgrímsdóttir IB, Hunkapiller J, van der Brug M, Cai F; International Parkinson's Disease Genomics Consortium; 23andMe Research Team; Kerchner GA, Ayalon G, Bingol B, Sheng M, Hinds D, Behrens TW, Singleton AB, Bhangale TR, Graham RR. Chang D, et al. Among authors: hunkapiller j. Nat Genet. 2017 Oct;49(10):1511-1516. doi: 10.1038/ng.3955. Epub 2017 Sep 11. Nat Genet. 2017. PMID: 28892059 Free PMC article.
A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death.
Wetzel-Smith MK, Hunkapiller J, Bhangale TR, Srinivasan K, Maloney JA, Atwal JK, Sa SM, Yaylaoglu MB, Foreman O, Ortmann W, Rathore N, Hansen DV, Tessier-Lavigne M; Alzheimer's Disease Genetics Consortium; Mayeux R, Pericak-Vance M, Haines J, Farrer LA, Schellenberg GD, Goate A, Behrens TW, Cruchaga C, Watts RJ, Graham RR. Wetzel-Smith MK, et al. Among authors: hunkapiller j. Nat Med. 2014 Dec;20(12):1452-7. doi: 10.1038/nm.3736. Epub 2014 Nov 24. Nat Med. 2014. PMID: 25419706 Free PMC article.
Identifying and mitigating batch effects in whole genome sequencing data.
Tom JA, Reeder J, Forrest WF, Graham RR, Hunkapiller J, Behrens TW, Bhangale TR. Tom JA, et al. Among authors: hunkapiller j. BMC Bioinformatics. 2017 Jul 24;18(1):351. doi: 10.1186/s12859-017-1756-z. BMC Bioinformatics. 2017. PMID: 28738841 Free PMC article.
Natural variation in the parameters of innate immune cells is preferentially driven by genetic factors.
Patin E, Hasan M, Bergstedt J, Rouilly V, Libri V, Urrutia A, Alanio C, Scepanovic P, Hammer C, Jönsson F, Beitz B, Quach H, Lim YW, Hunkapiller J, Zepeda M, Green C, Piasecka B, Leloup C, Rogge L, Huetz F, Peguillet I, Lantz O, Fontes M, Di Santo JP, Thomas S, Fellay J, Duffy D, Quintana-Murci L, Albert ML; Milieu Intérieur Consortium. Patin E, et al. Among authors: hunkapiller j. Nat Immunol. 2018 Mar;19(3):302-314. doi: 10.1038/s41590-018-0049-7. Epub 2018 Feb 23. Nat Immunol. 2018. PMID: 29476184 Free article.
Previously reported placebo-response-associated variants do not predict patient outcomes in inflammatory disease Phase III trial placebo arms.
Haug-Baltzell A, Bhangale TR, Chang D, Dressen A, Yaspan BL, Ortmann W, Brauer MJ, Hunkapiller J, Reeder J, Mukhyala K, Cuenco KT, Tom JA, Cowgill A, Vogel J, Forrest WF, Behrens TW, Graham RR, Wuster A. Haug-Baltzell A, et al. Among authors: hunkapiller j. Genes Immun. 2019 Feb;20(2):172-179. doi: 10.1038/s41435-018-0018-z. Epub 2018 Mar 18. Genes Immun. 2019. PMID: 29550837 Free PMC article.
Analysis of protein-altering variants in telomerase genes and their association with MUC5B common variant status in patients with idiopathic pulmonary fibrosis: a candidate gene sequencing study.
Dressen A, Abbas AR, Cabanski C, Reeder J, Ramalingam TR, Neighbors M, Bhangale TR, Brauer MJ, Hunkapiller J, Reeder J, Mukhyala K, Cuenco K, Tom J, Cowgill A, Vogel J, Forrest WF, Collard HR, Wolters PJ, Kropski JA, Lancaster LH, Blackwell TS, Arron JR, Yaspan BL. Dressen A, et al. Among authors: hunkapiller j. Lancet Respir Med. 2018 Aug;6(8):603-614. doi: 10.1016/S2213-2600(18)30135-8. Epub 2018 Jun 18. Lancet Respir Med. 2018. PMID: 29891356 Free PMC article.
Influence of genetic copy number variants of the human GLUT3 glucose transporter gene SLC2A3 on protein expression, glycolysis and rheumatoid arthritis risk: A genetic replication study.
Simpfendorfer KR, Li W, Shih A, Wen H, Kothari HP, Einsidler EA, Wuster A, Hunkapiller J, Behrens TW, Graham RR, Townsend MJ, Behar DM, Hu R, Greenspan E, Gregersen PK. Simpfendorfer KR, et al. Among authors: hunkapiller j. Mol Genet Metab Rep. 2019 Apr 6;19:100470. doi: 10.1016/j.ymgmr.2019.100470. eCollection 2019 Jun. Mol Genet Metab Rep. 2019. PMID: 30997344 Free PMC article.
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells.
Bao EL, Nandakumar SK, Liao X, Bick AG, Karjalainen J, Tabaka M, Gan OI, Havulinna AS, Kiiskinen TTJ, Lareau CA, de Lapuente Portilla AL, Li B, Emdin C, Codd V, Nelson CP, Walker CJ, Churchhouse C, de la Chapelle A, Klein DE, Nilsson B, Wilson PWF, Cho K, Pyarajan S, Gaziano JM, Samani NJ; FinnGen; 23andMe Research Team; Regev A, Palotie A, Neale BM, Dick JE, Natarajan P, O'Donnell CJ, Daly MJ, Milyavsky M, Kathiresan S, Sankaran VG. Bao EL, et al. Nature. 2020 Oct;586(7831):769-775. doi: 10.1038/s41586-020-2786-7. Epub 2020 Oct 14. Nature. 2020. PMID: 33057200 Free PMC article.
45 results