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Page 1
Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.
Hoggart CJ, Venturini G, Mangino M, Gomez F, Ascari G, Zhao JH, Teumer A, Winkler TW, Tšernikova N, Luan J, Mihailov E, Ehret GB, Zhang W, Lamparter D, Esko T, Macé A, Rüeger S, Bochud PY, Barcella M, Dauvilliers Y, Benyamin B, Evans DM, Hayward C, Lopez MF, Franke L, Russo A, Heid IM, Salvi E, Vendantam S, Arking DE, Boerwinkle E, Chambers JC, Fiorito G, Grallert H, Guarrera S, Homuth G, Huffman JE, Porteous D; Generation Scotland Consortium; LifeLines Cohort study; GIANT Consortium; Moradpour D, Iranzo A, Hebebrand J, Kemp JP, Lammers GJ, Aubert V, Heim MH, Martin NG, Montgomery GW, Peraita-Adrados R, Santamaria J, Negro F, Schmidt CO, Scott RA, Spector TD, Strauch K, Völzke H, Wareham NJ, Yuan W, Bell JT, Chakravarti A, Kooner JS, Peters A, Matullo G, Wallaschofski H, Whitfield JB, Paccaud F, Vollenweider P, Bergmann S, Beckmann JS, Tafti M, Hastie ND, Cusi D, Bochud M, Frayling TM, Metspalu A, Jarvelin MR, Scherag A, Smith GD, Borecki IB, Rousson V, Hirschhorn JN, Rivolta C, Loos RJ, Kutalik Z. Hoggart CJ, et al. Among authors: mace a. PLoS Genet. 2014 Jul 31;10(7):e1004508. doi: 10.1371/journal.pgen.1004508. eCollection 2014 Jul. PLoS Genet. 2014. PMID: 25078964 Free PMC article.
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
O'Seaghdha CM, Wu H, Yang Q, Kapur K, Guessous I, Zuber AM, Köttgen A, Stoudmann C, Teumer A, Kutalik Z, Mangino M, Dehghan A, Zhang W, Eiriksdottir G, Li G, Tanaka T, Portas L, Lopez LM, Hayward C, Lohman K, Matsuda K, Padmanabhan S, Firsov D, Sorice R, Ulivi S, Brockhaus AC, Kleber ME, Mahajan A, Ernst FD, Gudnason V, Launer LJ, Mace A, Boerwinckle E, Arking DE, Tanikawa C, Nakamura Y, Brown MJ, Gaspoz JM, Theler JM, Siscovick DS, Psaty BM, Bergmann S, Vollenweider P, Vitart V, Wright AF, Zemunik T, Boban M, Kolcic I, Navarro P, Brown EM, Estrada K, Ding J, Harris TB, Bandinelli S, Hernandez D, Singleton AB, Girotto G, Ruggiero D, d'Adamo AP, Robino A, Meitinger T, Meisinger C, Davies G, Starr JM, Chambers JC, Boehm BO, Winkelmann BR, Huang J, Murgia F, Wild SH, Campbell H, Morris AP, Franco OH, Hofman A, Uitterlinden AG, Rivadeneira F, Völker U, Hannemann A, Biffar R, Hoffmann W, Shin SY, Lescuyer P, Henry H, Schurmann C; SUNLIGHT Consortium; GEFOS Consortium; Munroe PB, Gasparini P, Pirastu N, Ciullo M, Gieger C, März W, Lind L, Spector TD, Smith AV, Rudan I, Wilson JF, Polasek O, Deary IJ, Pirastu M, Ferrucci L, Liu Y, Kestenbaum B, Kooner JS, Witteman JC, Nauck M, Kao… See abstract for full author list ➔ O'Seaghdha CM, et al. Among authors: mace a. PLoS Genet. 2013;9(9):e1003796. doi: 10.1371/journal.pgen.1003796. Epub 2013 Sep 19. PLoS Genet. 2013. PMID: 24068962 Free PMC article.
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.
Macé A, Tuke MA, Deelen P, Kristiansson K, Mattsson H, Nõukas M, Sapkota Y, Schick U, Porcu E, Rüeger S, McDaid AF, Porteous D, Winkler TW, Salvi E, Shrine N, Liu X, Ang WQ, Zhang W, Feitosa MF, Venturini C, van der Most PJ, Rosengren A, Wood AR, Beaumont RN, Jones SE, Ruth KS, Yaghootkar H, Tyrrell J, Havulinna AS, Boers H, Mägi R, Kriebel J, Müller-Nurasyid M, Perola M, Nieminen M, Lokki ML, Kähönen M, Viikari JS, Geller F, Lahti J, Palotie A, Koponen P, Lundqvist A, Rissanen H, Bottinger EP, Afaq S, Wojczynski MK, Lenzini P, Nolte IM, Sparsø T, Schupf N, Christensen K, Perls TT, Newman AB, Werge T, Snieder H, Spector TD, Chambers JC, Koskinen S, Melbye M, Raitakari OT, Lehtimäki T, Tobin MD, Wain LV, Sinisalo J, Peters A, Meitinger T, Martin NG, Wray NR, Montgomery GW, Medland SE, Swertz MA, Vartiainen E, Borodulin K, Männistö S, Murray A, Bochud M, Jacquemont S, Rivadeneira F, Hansen TF, Oldehinkel AJ, Mangino M, Province MA, Deloukas P, Kooner JS, Freathy RM, Pennell C, Feenstra B, Strachan DP, Lettre G, Hirschhorn J, Cusi D, Heid IM, Hayward C, Männik K, Beckmann JS, Loos RJF, Nyholt DR, Metspalu A, Eriksson JG, Weedon MN, Salomaa V, Franke L, Reymond A, Frayling TM, … See abstract for full author list ➔ Macé A, et al. Nat Commun. 2017 Sep 29;8(1):744. doi: 10.1038/s41467-017-00556-x. Nat Commun. 2017. PMID: 28963451 Free PMC article.
Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.
Ligthart S, Vaez A, Võsa U, Stathopoulou MG, de Vries PS, Prins BP, Van der Most PJ, Tanaka T, Naderi E, Rose LM, Wu Y, Karlsson R, Barbalic M, Lin H, Pool R, Zhu G, Macé A, Sidore C, Trompet S, Mangino M, Sabater-Lleal M, Kemp JP, Abbasi A, Kacprowski T, Verweij N, Smith AV, Huang T, Marzi C, Feitosa MF, Lohman KK, Kleber ME, Milaneschi Y, Mueller C, Huq M, Vlachopoulou E, Lyytikäinen LP, Oldmeadow C, Deelen J, Perola M, Zhao JH, Feenstra B; LifeLines Cohort Study; Amini M; CHARGE Inflammation Working Group; Lahti J, Schraut KE, Fornage M, Suktitipat B, Chen WM, Li X, Nutile T, Malerba G, Luan J, Bak T, Schork N, Del Greco M F, Thiering E, Mahajan A, Marioni RE, Mihailov E, Eriksson J, Ozel AB, Zhang W, Nethander M, Cheng YC, Aslibekyan S, Ang W, Gandin I, Yengo L, Portas L, Kooperberg C, Hofer E, Rajan KB, Schurmann C, den Hollander W, Ahluwalia TS, Zhao J, Draisma HHM, Ford I, Timpson N, Teumer A, Huang H, Wahl S, Liu Y, Huang J, Uh HW, Geller F, Joshi PK, Yanek LR, Trabetti E, Lehne B, Vozzi D, Verbanck M, Biino G, Saba Y, Meulenbelt I, O'Connell JR, Laakso M, Giulianini F, Magnusson PKE, Ballantyne CM, Hottenga JJ, Montgomery GW, Rivadineira F, Rueedi R, Steri M, Herzi… See abstract for full author list ➔ Ligthart S, et al. Among authors: mace a. Am J Hum Genet. 2018 Nov 1;103(5):691-706. doi: 10.1016/j.ajhg.2018.09.009. Am J Hum Genet. 2018. PMID: 30388399 Free PMC article.
New quality measure for SNP array based CNV detection.
Macé A, Tuke MA, Beckmann JS, Lin L, Jacquemont S, Weedon MN, Reymond A, Kutalik Z. Macé A, et al. Bioinformatics. 2016 Nov 1;32(21):3298-3305. doi: 10.1093/bioinformatics/btw477. Epub 2016 Jul 10. Bioinformatics. 2016. PMID: 27402902
MOTIVATION: Only a few large systematic studies have evaluated the impact of copy number variants (CNVs) on common diseases. ...However, CNV calls remain prone to false positives and only empirical filtering strategies exist in the literature. To overcome this issue, we de …
MOTIVATION: Only a few large systematic studies have evaluated the impact of copy number variants (CNVs) on common diseases. ...Howev …
Copy Number Variation.
Macé A, Kutalik Z, Valsesia A. Macé A, et al. Methods Mol Biol. 2018;1793:231-258. doi: 10.1007/978-1-4939-7868-7_14. Methods Mol Biol. 2018. PMID: 29876900
Genome-Wide Meta-Analysis Unravels Interactions between Magnesium Homeostasis and Metabolic Phenotypes.
Corre T, Arjona FJ, Hayward C, Youhanna S, de Baaij JHF, Belge H, Nägele N, Debaix H, Blanchard MG, Traglia M, Harris SE, Ulivi S, Rueedi R, Lamparter D, Macé A, Sala C, Lenarduzzi S, Ponte B, Pruijm M, Ackermann D, Ehret G, Baptista D, Polasek O, Rudan I, Hurd TW, Hastie ND, Vitart V, Waeber G, Kutalik Z, Bergmann S, Vargas-Poussou R, Konrad M, Gasparini P, Deary IJ, Starr JM, Toniolo D, Vollenweider P, Hoenderop JGJ, Bindels RJM, Bochud M, Devuyst O. Corre T, et al. Among authors: mace a. J Am Soc Nephrol. 2018 Jan;29(1):335-348. doi: 10.1681/ASN.2017030267. Epub 2017 Nov 1. J Am Soc Nephrol. 2018. PMID: 29093028 Free PMC article.
Copy number variations and cognitive phenotypes in unselected populations.
Männik K, Mägi R, Macé A, Cole B, Guyatt AL, Shihab HA, Maillard AM, Alavere H, Kolk A, Reigo A, Mihailov E, Leitsalu L, Ferreira AM, Nõukas M, Teumer A, Salvi E, Cusi D, McGue M, Iacono WG, Gaunt TR, Beckmann JS, Jacquemont S, Kutalik Z, Pankratz N, Timpson N, Metspalu A, Reymond A. Männik K, et al. Among authors: mace a. JAMA. 2015 May 26;313(20):2044-54. doi: 10.1001/jama.2015.4845. JAMA. 2015. PMID: 26010633 Free PMC article.
Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels.
Tin A, Li Y, Brody JA, Nutile T, Chu AY, Huffman JE, Yang Q, Chen MH, Robinson-Cohen C, Macé A, Liu J, Demirkan A, Sorice R, Sedaghat S, Swen M, Yu B, Ghasemi S, Teumer A, Vollenweider P, Ciullo M, Li M, Uitterlinden AG, Kraaij R, Amin N, van Rooij J, Kutalik Z, Dehghan A, McKnight B, van Duijn CM, Morrison A, Psaty BM, Boerwinkle E, Fox CS, Woodward OM, Köttgen A. Tin A, et al. Among authors: mace a. Nat Commun. 2018 Oct 12;9(1):4228. doi: 10.1038/s41467-018-06620-4. Nat Commun. 2018. PMID: 30315176 Free PMC article.
185 results