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Page 1
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.
Dauber A, Lafranchi SH, Maliga Z, Lui JC, Moon JE, McDeed C, Henke K, Zonana J, Kingman GA, Pers TH, Baron J, Rosenfeld RG, Hirschhorn JN, Harris MP, Hwa V. Dauber A, et al. Among authors: pers th. J Clin Endocrinol Metab. 2012 Nov;97(11):E2140-51. doi: 10.1210/jc.2012-2150. Epub 2012 Aug 29. J Clin Endocrinol Metab. 2012. PMID: 22933543 Free PMC article.
Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity.
Bakker MK, Kanning JP, Abraham G, Martinsen AE, Winsvold BS, Zwart JA, Bourcier R, Sawada T, Koido M, Kamatani Y, Morel S, Amouyel P, Debette S, Bijlenga P, Berrandou T, Ganesh SK, Bouatia-Naji N, Jones G, Bown M, Rinkel GJE, Veldink JH, Ruigrok YM; HUNT All-In Stroke, CADISP group, International Consortium for Blood Pressure, International Headache Genetics Consortium, International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group. Bakker MK, et al. Stroke. 2023 Mar;54(3):810-818. doi: 10.1161/STROKEAHA.122.040715. Epub 2023 Jan 19. Stroke. 2023. PMID: 36655558 Free PMC article.
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
Bønnelykke K, Matheson MC, Pers TH, Granell R, Strachan DP, Alves AC, Linneberg A, Curtin JA, Warrington NM, Standl M, Kerkhof M, Jonsdottir I, Bukvic BK, Kaakinen M, Sleimann P, Thorleifsson G, Thorsteinsdottir U, Schramm K, Baltic S, Kreiner-Møller E, Simpson A, St Pourcain B, Coin L, Hui J, Walters EH, Tiesler CMT, Duffy DL, Jones G; AAGC; Ring SM, McArdle WL, Price L, Robertson CF, Pekkanen J, Tang CS, Thiering E, Montgomery GW, Hartikainen AL, Dharmage SC, Husemoen LL, Herder C, Kemp JP, Elliot P, James A, Waldenberger M, Abramson MJ, Fairfax BP, Knight JC, Gupta R, Thompson PJ, Holt P, Sly P, Hirschhorn JN, Blekic M, Weidinger S, Hakonarsson H, Stefansson K, Heinrich J, Postma DS, Custovic A, Pennell CE, Jarvelin MR, Koppelman GH, Timpson N, Ferreira MA, Bisgaard H, Henderson AJ. Bønnelykke K, et al. Among authors: pers th. Nat Genet. 2013 Aug;45(8):902-906. doi: 10.1038/ng.2694. Epub 2013 Jun 30. Nat Genet. 2013. PMID: 23817571 Free PMC article.
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
Geller F, Feenstra B, Carstensen L, Pers TH, van Rooij IA, Körberg IB, Choudhry S, Karjalainen JM, Schnack TH, Hollegaard MV, Feitz WF, Roeleveld N, Hougaard DM, Hirschhorn JN, Franke L, Baskin LS, Nordenskjöld A, van der Zanden LF, Melbye M. Geller F, et al. Among authors: pers th. Nat Genet. 2014 Sep;46(9):957-63. doi: 10.1038/ng.3063. Epub 2014 Aug 10. Nat Genet. 2014. PMID: 25108383
Defining the role of common variation in the genomic and biological architecture of adult human height.
Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, Chu AY, Estrada K, Luan J, Kutalik Z, Amin N, Buchkovich ML, Croteau-Chonka DC, Day FR, Duan Y, Fall T, Fehrmann R, Ferreira T, Jackson AU, Karjalainen J, Lo KS, Locke AE, Mägi R, Mihailov E, Porcu E, Randall JC, Scherag A, Vinkhuyzen AA, Westra HJ, Winkler TW, Workalemahu T, Zhao JH, Absher D, Albrecht E, Anderson D, Baron J, Beekman M, Demirkan A, Ehret GB, Feenstra B, Feitosa MF, Fischer K, Fraser RM, Goel A, Gong J, Justice AE, Kanoni S, Kleber ME, Kristiansson K, Lim U, Lotay V, Lui JC, Mangino M, Mateo Leach I, Medina-Gomez C, Nalls MA, Nyholt DR, Palmer CD, Pasko D, Pechlivanis S, Prokopenko I, Ried JS, Ripke S, Shungin D, Stancáková A, Strawbridge RJ, Sung YJ, Tanaka T, Teumer A, Trompet S, van der Laan SW, van Setten J, Van Vliet-Ostaptchouk JV, Wang Z, Yengo L, Zhang W, Afzal U, Arnlöv J, Arscott GM, Bandinelli S, Barrett A, Bellis C, Bennett AJ, Berne C, Blüher M, Bolton JL, Böttcher Y, Boyd HA, Bruinenberg M, Buckley BM, Buyske S, Caspersen IH, Chines PS, Clarke R, Claudi-Boehm S, Cooper M, Daw EW, De Jong PA, Deelen J, Delgado G, Denny JC, Dhonukshe-Rutten R, Dimitriou M, Doney AS, Dörr M, Eklund N, Eu… See abstract for full author list ➔ Wood AR, et al. Among authors: pers th. Nat Genet. 2014 Nov;46(11):1173-86. doi: 10.1038/ng.3097. Epub 2014 Oct 5. Nat Genet. 2014. PMID: 25282103 Free PMC article.
Gene expression analysis identifies global gene dosage sensitivity in cancer.
Fehrmann RS, Karjalainen JM, Krajewska M, Westra HJ, Maloney D, Simeonov A, Pers TH, Hirschhorn JN, Jansen RC, Schultes EA, van Haagen HH, de Vries EG, te Meerman GJ, Wijmenga C, van Vugt MA, Franke L. Fehrmann RS, et al. Among authors: pers th. Nat Genet. 2015 Feb;47(2):115-25. doi: 10.1038/ng.3173. Epub 2015 Jan 12. Nat Genet. 2015. PMID: 25581432
Biological interpretation of genome-wide association studies using predicted gene functions.
Pers TH, Karjalainen JM, Chan Y, Westra HJ, Wood AR, Yang J, Lui JC, Vedantam S, Gustafsson S, Esko T, Frayling T, Speliotes EK; Genetic Investigation of ANthropometric Traits (GIANT) Consortium; Boehnke M, Raychaudhuri S, Fehrmann RS, Hirschhorn JN, Franke L. Pers TH, et al. Nat Commun. 2015 Jan 19;6:5890. doi: 10.1038/ncomms6890. Nat Commun. 2015. PMID: 25597830 Free PMC article.
Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.
Chan Y, Salem RM, Hsu YH, McMahon G, Pers TH, Vedantam S, Esko T, Guo MH, Lim ET; GIANT Consortium; Franke L, Smith GD, Strachan DP, Hirschhorn JN. Chan Y, et al. Among authors: pers th. Am J Hum Genet. 2015 May 7;96(5):695-708. doi: 10.1016/j.ajhg.2015.02.018. Epub 2015 Apr 9. Am J Hum Genet. 2015. PMID: 25865494 Free PMC article.
152 results