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Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms.
Guo MH, Nandakumar SK, Ulirsch JC, Zekavat SM, Buenrostro JD, Natarajan P, Salem RM, Chiarle R, Mitt M, Kals M, Pärn K, Fischer K, Milani L, Mägi R, Palta P, Gabriel SB, Metspalu A, Lander ES, Kathiresan S, Hirschhorn JN, Esko T, Sankaran VG. Guo MH, et al. Among authors: salem rm. Proc Natl Acad Sci U S A. 2017 Jan 17;114(3):E327-E336. doi: 10.1073/pnas.1619052114. Epub 2016 Dec 28. Proc Natl Acad Sci U S A. 2017. PMID: 28031487 Free PMC article.
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S, Ferreira T, Wood AR, Weyant RJ, Segrè AV, Speliotes EK, Wheeler E, Soranzo N, Park JH, Yang J, Gudbjartsson D, Heard-Costa NL, Randall JC, Qi L, Vernon Smith A, Mägi R, Pastinen T, Liang L, Heid IM, Luan J, Thorleifsson G, Winkler TW, Goddard ME, Sin Lo K, Palmer C, Workalemahu T, Aulchenko YS, Johansson A, Zillikens MC, Feitosa MF, Esko T, Johnson T, Ketkar S, Kraft P, Mangino M, Prokopenko I, Absher D, Albrecht E, Ernst F, Glazer NL, Hayward C, Hottenga JJ, Jacobs KB, Knowles JW, Kutalik Z, Monda KL, Polasek O, Preuss M, Rayner NW, Robertson NR, Steinthorsdottir V, Tyrer JP, Voight BF, Wiklund F, Xu J, Zhao JH, Nyholt DR, Pellikka N, Perola M, Perry JR, Surakka I, Tammesoo ML, Altmaier EL, Amin N, Aspelund T, Bhangale T, Boucher G, Chasman DI, Chen C, Coin L, Cooper MN, Dixon AL, Gibson Q, Grundberg E, Hao K, Juhani Junttila M, Kaplan LM, Kettunen J, König IR, Kwan T, Lawrence RW, Levinson DF, Lorentzon M, McKnight B, Morris AP, Müller M, Suh Ngwa J, Purcell S, Rafelt S, Salem RM, Salvi E, Sanna S, Shi J, Sovio U, Thompson JR, Turchin MC, Vandenput L… See abstract for full author list ➔ Lango Allen H, et al. Among authors: salem rm. Nature. 2010 Oct 14;467(7317):832-8. doi: 10.1038/nature09410. Epub 2010 Sep 29. Nature. 2010. PMID: 20881960 Free PMC article.
Common variants at 12q15 and 12q24 are associated with infant head circumference.
Taal HR, Pourcain BS, Thiering E, Das S, Mook-Kanamori DO, Warrington NM, Kaakinen M, Kreiner-Møller E, Bradfield JP, Freathy RM, Geller F, Guxens M, Cousminer DL, Kerkhof M, Timpson NJ, Ikram MA, Beilin LJ, Bønnelykke K, Buxton JL, Charoen P, Chawes BLK, Eriksson J, Evans DM, Hofman A, Kemp JP, Kim CE, Klopp N, Lahti J, Lye SJ, McMahon G, Mentch FD, Müller M, O'Reilly PF, Prokopenko I, Rivadeneira F, Steegers EAP, Sunyer J, Tiesler C, Yaghootkar H; Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium; Breteler MMB, Debette S, Fornage M, Gudnason V, Launer LJ, van der Lugt A, Mosley TH, Seshadri S, Smith AV, Vernooij MW; Early Genetics & Lifecourse Epidemiology (EAGLE) consortium; Blakemore AI, Chiavacci RM, Feenstra B, Fernandez-Benet J, Grant SFA, Hartikainen AL, van der Heijden AJ, Iñiguez C, Lathrop M, McArdle WL, Mølgaard A, Newnham JP, Palmer LJ, Palotie A, Pouta A, Ring SM, Sovio U, Standl M, Uitterlinden AG, Wichmann HE, Vissing NH, DeCarli C, van Duijn CM, McCarthy MI, Koppelman GH, Estivill X, Hattersley AT, Melbye M, Bisgaard H, Pennell CE, Widen E, Hakonarson H, Smith GD, Heinrich J, Jarvelin MR; Early Growth Genetics (EGG) Consortium; J… See abstract for full author list ➔ Taal HR, et al. Nat Genet. 2012 Apr 15;44(5):532-538. doi: 10.1038/ng.2238. Nat Genet. 2012. PMID: 22504419 Free PMC article.
Association testing of previously reported variants in a large case-control meta-analysis of diabetic nephropathy.
Williams WW, Salem RM, McKnight AJ, Sandholm N, Forsblom C, Taylor A, Guiducci C, McAteer JB, McKay GJ, Isakova T, Brennan EP, Sadlier DM, Palmer C, Söderlund J, Fagerholm E, Harjutsalo V, Lithovius R, Gordin D, Hietala K, Kytö J, Parkkonen M, Rosengård-Bärlund M, Thorn L, Syreeni A, Tolonen N, Saraheimo M, Wadén J, Pitkäniemi J, Sarti C, Tuomilehto J, Tryggvason K, Österholm AM, He B, Bain S, Martin F, Godson C, Hirschhorn JN, Maxwell AP, Groop PH, Florez JC; GENIE Consortium. Williams WW, et al. Among authors: salem rm. Diabetes. 2012 Aug;61(8):2187-94. doi: 10.2337/db11-0751. Epub 2012 Jun 20. Diabetes. 2012. PMID: 22721967 Free PMC article.
New susceptibility loci associated with kidney disease in type 1 diabetes.
Sandholm N, Salem RM, McKnight AJ, Brennan EP, Forsblom C, Isakova T, McKay GJ, Williams WW, Sadlier DM, Mäkinen VP, Swan EJ, Palmer C, Boright AP, Ahlqvist E, Deshmukh HA, Keller BJ, Huang H, Ahola AJ, Fagerholm E, Gordin D, Harjutsalo V, He B, Heikkilä O, Hietala K, Kytö J, Lahermo P, Lehto M, Lithovius R, Osterholm AM, Parkkonen M, Pitkäniemi J, Rosengård-Bärlund M, Saraheimo M, Sarti C, Söderlund J, Soro-Paavonen A, Syreeni A, Thorn LM, Tikkanen H, Tolonen N, Tryggvason K, Tuomilehto J, Wadén J, Gill GV, Prior S, Guiducci C, Mirel DB, Taylor A, Hosseini SM; DCCT/EDIC Research Group; Parving HH, Rossing P, Tarnow L, Ladenvall C, Alhenc-Gelas F, Lefebvre P, Rigalleau V, Roussel R, Tregouet DA, Maestroni A, Maestroni S, Falhammar H, Gu T, Möllsten A, Cimponeriu D, Ioana M, Mota M, Mota E, Serafinceanu C, Stavarachi M, Hanson RL, Nelson RG, Kretzler M, Colhoun HM, Panduru NM, Gu HF, Brismar K, Zerbini G, Hadjadj S, Marre M, Groop L, Lajer M, Bull SB, Waggott D, Paterson AD, Savage DA, Bain SC, Martin F, Hirschhorn JN, Godson C, Florez JC, Groop PH, Maxwell AP. Sandholm N, et al. Among authors: salem rm. PLoS Genet. 2012 Sep;8(9):e1002921. doi: 10.1371/journal.pgen.1002921. Epub 2012 Sep 20. PLoS Genet. 2012. PMID: 23028342 Free PMC article.
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
Cousminer DL, Berry DJ, Timpson NJ, Ang W, Thiering E, Byrne EM, Taal HR, Huikari V, Bradfield JP, Kerkhof M, Groen-Blokhuis MM, Kreiner-Møller E, Marinelli M, Holst C, Leinonen JT, Perry JR, Surakka I, Pietiläinen O, Kettunen J, Anttila V, Kaakinen M, Sovio U, Pouta A, Das S, Lagou V, Power C, Prokopenko I, Evans DM, Kemp JP, St Pourcain B, Ring S, Palotie A, Kajantie E, Osmond C, Lehtimäki T, Viikari JS, Kähönen M, Warrington NM, Lye SJ, Palmer LJ, Tiesler CM, Flexeder C, Montgomery GW, Medland SE, Hofman A, Hakonarson H, Guxens M, Bartels M, Salomaa V; ReproGen Consortium; Murabito JM, Kaprio J, Sørensen TI, Ballester F, Bisgaard H, Boomsma DI, Koppelman GH, Grant SF, Jaddoe VW, Martin NG, Heinrich J, Pennell CE, Raitakari OT, Eriksson JG, Smith GD, Hyppönen E, Järvelin MR, McCarthy MI, Ripatti S, Widén E; Early Growth Genetics (EGG) Consortium. Cousminer DL, et al. Hum Mol Genet. 2013 Jul 1;22(13):2735-47. doi: 10.1093/hmg/ddt104. Epub 2013 Feb 27. Hum Mol Genet. 2013. PMID: 23449627 Free PMC article.
Chromosome 2q31.1 associates with ESRD in women with type 1 diabetes.
Sandholm N, McKnight AJ, Salem RM, Brennan EP, Forsblom C, Harjutsalo V, Mäkinen VP, McKay GJ, Sadlier DM, Williams WW, Martin F, Panduru NM, Tarnow L, Tuomilehto J, Tryggvason K, Zerbini G, Comeau ME, Langefeld CD; FIND Consortium; Godson C, Hirschhorn JN, Maxwell AP, Florez JC, Groop PH; FinnDiane Study Group and the GENIE Consortium. Sandholm N, et al. Among authors: salem rm. J Am Soc Nephrol. 2013 Oct;24(10):1537-43. doi: 10.1681/ASN.2012111122. Epub 2013 Sep 12. J Am Soc Nephrol. 2013. PMID: 24029427 Free PMC article.
An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.
Chan Y, Lim ET, Sandholm N, Wang SR, McKnight AJ, Ripke S; DIAGRAM Consortium; GENIE Consortium; GIANT Consortium; IIBDGC Consortium; PGC Consortium; Daly MJ, Neale BM, Salem RM, Hirschhorn JN. Chan Y, et al. Among authors: salem rm. Am J Hum Genet. 2014 Mar 6;94(3):437-52. doi: 10.1016/j.ajhg.2014.02.006. Am J Hum Genet. 2014. PMID: 24607388 Free PMC article.
Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.
Cousminer DL, Stergiakouli E, Berry DJ, Ang W, Groen-Blokhuis MM, Körner A, Siitonen N, Ntalla I, Marinelli M, Perry JR, Kettunen J, Jansen R, Surakka I, Timpson NJ, Ring S, Mcmahon G, Power C, Wang C, Kähönen M, Viikari J, Lehtimäki T, Middeldorp CM, Hulshoff Pol HE, Neef M, Weise S, Pahkala K, Niinikoski H, Zeggini E, Panoutsopoulou K, Bustamante M, Penninx BW; ReproGen Consortium; Murabito J, Torrent M, Dedoussis GV, Kiess W, Boomsma DI, Pennell CE, Raitakari OT, Hyppönen E, Davey Smith G, Ripatti S, McCarthy MI, Widén E; Early Growth Genetics Consortium. Cousminer DL, et al. Hum Mol Genet. 2014 Aug 15;23(16):4452-64. doi: 10.1093/hmg/ddu150. Epub 2014 Apr 25. Hum Mol Genet. 2014. PMID: 24770850 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: salem rm. 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.
132 results