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A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.
Lim ET, Liu YP, Chan Y, Tiinamaija T, Käräjämäki A, Madsen E; Go-T2D Consortium; Altshuler DM, Raychaudhuri S, Groop L, Flannick J, Hirschhorn JN, Katsanis N, Daly MJ. Lim ET, et al. Among authors: chan y. Am J Hum Genet. 2014 Nov 6;95(5):509-20. doi: 10.1016/j.ajhg.2014.09.015. Epub 2014 Oct 16. Am J Hum Genet. 2014. PMID: 25439097 Free PMC article.
Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals.
Chan Y, Holmen OL, Dauber A, Vatten L, Havulinna AS, Skorpen F, Kvaløy K, Silander K, Nguyen TT, Willer C, Boehnke M, Perola M, Palotie A, Salomaa V, Hveem K, Frayling TM, Hirschhorn JN, Weedon MN. Chan Y, et al. PLoS Genet. 2011 Dec;7(12):e1002439. doi: 10.1371/journal.pgen.1002439. Epub 2011 Dec 29. PLoS Genet. 2011. PMID: 22242009 Free PMC article.
Distribution and medical impact of loss-of-function variants in the Finnish founder population.
Lim ET, Würtz P, Havulinna AS, Palta P, Tukiainen T, Rehnström K, Esko T, Mägi R, Inouye M, Lappalainen T, Chan Y, Salem RM, Lek M, Flannick J, Sim X, Manning A, Ladenvall C, Bumpstead S, Hämäläinen E, Aalto K, Maksimow M, Salmi M, Blankenberg S, Ardissino D, Shah S, Horne B, McPherson R, Hovingh GK, Reilly MP, Watkins H, Goel A, Farrall M, Girelli D, Reiner AP, Stitziel NO, Kathiresan S, Gabriel S, Barrett JC, Lehtimäki T, Laakso M, Groop L, Kaprio J, Perola M, McCarthy MI, Boehnke M, Altshuler DM, Lindgren CM, Hirschhorn JN, Metspalu A, Freimer NB, Zeller T, Jalkanen S, Koskinen S, Raitakari O, Durbin R, MacArthur DG, Salomaa V, Ripatti S, Daly MJ, Palotie A; Sequencing Initiative Suomi (SISu) Project. Lim ET, et al. Among authors: chan y. PLoS Genet. 2014 Jul 31;10(7):e1004494. doi: 10.1371/journal.pgen.1004494. eCollection 2014 Jul. PLoS Genet. 2014. PMID: 25078778 Free PMC article.
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. Among authors: chan y. 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. 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.
Directional dominance on stature and cognition in diverse human populations.
Joshi PK, Esko T, Mattsson H, Eklund N, Gandin I, Nutile T, Jackson AU, Schurmann C, Smith AV, Zhang W, Okada Y, Stančáková A, Faul JD, Zhao W, Bartz TM, Concas MP, Franceschini N, Enroth S, Vitart V, Trompet S, Guo X, Chasman DI, O'Connel JR, Corre T, Nongmaithem SS, Chen Y, Mangino M, Ruggiero D, Traglia M, Farmaki AE, Kacprowski T, Bjonnes A, van der Spek A, Wu Y, Giri AK, Yanek LR, Wang L, Hofer E, Rietveld CA, McLeod O, Cornelis MC, Pattaro C, Verweij N, Baumbach C, Abdellaoui A, Warren HR, Vuckovic D, Mei H, Bouchard C, Perry JRB, Cappellani S, Mirza SS, Benton MC, Broeckel U, Medland SE, Lind PA, Malerba G, Drong A, Yengo L, Bielak LF, Zhi D, van der Most PJ, Shriner D, Mägi R, Hemani G, Karaderi T, Wang Z, Liu T, Demuth I, Zhao JH, Meng W, Lataniotis L, van der Laan SW, Bradfield JP, Wood AR, Bonnefond A, Ahluwalia TS, Hall LM, Salvi E, Yazar S, Carstensen L, de Haan HG, Abney M, Afzal U, Allison MA, Amin N, Asselbergs FW, Bakker SJL, Barr RG, Baumeister SE, Benjamin DJ, Bergmann S, Boerwinkle E, Bottinger EP, Campbell A, Chakravarti A, Chan Y, Chanock SJ, Chen C, Chen YI, Collins FS, Connell J, Correa A, Cupples LA, Smith GD, Davies G, Dörr M, Ehret G, Ellis SB, Fe… See abstract for full author list ➔ Joshi PK, et al. Among authors: chan y. Nature. 2015 Jul 23;523(7561):459-462. doi: 10.1038/nature14618. Epub 2015 Jul 1. Nature. 2015. PMID: 26131930 Free PMC article.
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM; Autism Sequencing Consortium; Church GM, Scherer SW, Buxbaum JD, Walsh CA. Lim ET, et al. Among authors: chan y. Nat Neurosci. 2017 Sep;20(9):1217-1224. doi: 10.1038/nn.4598. Epub 2017 Jul 17. Nat Neurosci. 2017. PMID: 28714951 Free PMC article.
6,160 results