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Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.
Chen R, Shi L, Hakenberg J, Naughton B, Sklar P, Zhang J, Zhou H, Tian L, Prakash O, Lemire M, Sleiman P, Cheng WY, Chen W, Shah H, Shen Y, Fromer M, Omberg L, Deardorff MA, Zackai E, Bobe JR, Levin E, Hudson TJ, Groop L, Wang J, Hakonarson H, Wojcicki A, Diaz GA, Edelmann L, Schadt EE, Friend SH. Chen R, et al. Among authors: sleiman p. Nat Biotechnol. 2016 May;34(5):531-8. doi: 10.1038/nbt.3514. Epub 2016 Apr 11. Nat Biotechnol. 2016. PMID: 27065010
A missense mutation in ANKRD26 segregates with thrombocytopenia.
Al Daama SA, Housawi YH, Dridi W, Sager M, Otieno FG, Hou C, Vasquez L, Kim C, Tian L, Sleiman P, Hakonarson H. Al Daama SA, et al. Among authors: sleiman p. Blood. 2013 Jul 18;122(3):461-2. doi: 10.1182/blood-2013-03-489344. Blood. 2013. PMID: 23869080 Free article. No abstract available.
A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations.
Bønnelykke K, Sleiman P, Nielsen K, Kreiner-Møller E, Mercader JM, Belgrave D, den Dekker HT, Husby A, Sevelsted A, Faura-Tellez G, Mortensen LJ, Paternoster L, Flaaten R, Mølgaard A, Smart DE, Thomsen PF, Rasmussen MA, Bonàs-Guarch S, Holst C, Nohr EA, Yadav R, March ME, Blicher T, Lackie PM, Jaddoe VW, Simpson A, Holloway JW, Duijts L, Custovic A, Davies DE, Torrents D, Gupta R, Hollegaard MV, Hougaard DM, Hakonarson H, Bisgaard H. Bønnelykke K, et al. Among authors: sleiman p. Nat Genet. 2014 Jan;46(1):51-5. doi: 10.1038/ng.2830. Epub 2013 Nov 17. Nat Genet. 2014. PMID: 24241537
Meta-analysis identifies seven susceptibility loci involved in the atopic march.
Marenholz I, Esparza-Gordillo J, Rüschendorf F, Bauerfeind A, Strachan DP, Spycher BD, Baurecht H, Margaritte-Jeannin P, Sääf A, Kerkhof M, Ege M, Baltic S, Matheson MC, Li J, Michel S, Ang WQ, McArdle W, Arnold A, Homuth G, Demenais F, Bouzigon E, Söderhäll C, Pershagen G, de Jongste JC, Postma DS, Braun-Fahrländer C, Horak E, Ogorodova LM, Puzyrev VP, Bragina EY, Hudson TJ, Morin C, Duffy DL, Marks GB, Robertson CF, Montgomery GW, Musk B, Thompson PJ, Martin NG, James A, Sleiman P, Toskala E, Rodriguez E, Fölster-Holst R, Franke A, Lieb W, Gieger C, Heinzmann A, Rietschel E, Keil T, Cichon S, Nöthen MM, Pennell CE, Sly PD, Schmidt CO, Matanovic A, Schneider V, Heinig M, Hübner N, Holt PG, Lau S, Kabesch M, Weidinger S, Hakonarson H, Ferreira MAR, Laprise C, Freidin MB, Genuneit J, Koppelman GH, Melén E, Dizier MH, Henderson AJ, Lee YA. Marenholz I, et al. Among authors: sleiman p. Nat Commun. 2015 Nov 6;6:8804. doi: 10.1038/ncomms9804. Nat Commun. 2015. PMID: 26542096 Free PMC article.
Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk.
Chang X, Zhao Y, Hou C, Glessner J, McDaniel L, Diamond MA, Thomas K, Li J, Wei Z, Liu Y, Guo Y, Mentch FD, Qiu H, Kim C, Evans P, Vaksman Z, Diskin SJ, Attiyeh EF, Sleiman P, Maris JM, Hakonarson H. Chang X, et al. Among authors: sleiman p. Nat Commun. 2017 Sep 18;8(1):569. doi: 10.1038/s41467-017-00408-8. Nat Commun. 2017. PMID: 28924153 Free PMC article.
246 results