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Year Number of Results
2012 2
2013 3
2014 8
2015 6
2016 8
2017 5
2018 5
2019 7
2020 4
2021 2
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Page 1
The genetic architecture of type 2 diabetes.
Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, Ma C, Fontanillas P, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, Sim X, Blackwell TW, Robertson NR, Rayner NW, Cingolani P, Locke AE, Tajes JF, Highland HM, Dupuis J, Chines PS, Lindgren CM, Hartl C, Jackson AU, Chen H, Huyghe JR, van de Bunt M, Pearson RD, Kumar A, Müller-Nurasyid M, Grarup N, Stringham HM, Gamazon ER, Lee J, Chen Y, Scott RA, Below JE, Chen P, Huang J, Go MJ, Stitzel ML, Pasko D, Parker SCJ, Varga TV, Green T, Beer NL, Day-Williams AG, Ferreira T, Fingerlin T, Horikoshi M, Hu C, Huh I, Ikram MK, Kim BJ, Kim Y, Kim YJ, Kwon MS, Lee J, Lee S, Lin KH, Maxwell TJ, Nagai Y, Wang X, Welch RP, Yoon J, Zhang W, Barzilai N, Voight BF, Han BG, Jenkinson CP, Kuulasmaa T, Kuusisto J, Manning A, Ng MCY, Palmer ND, Balkau B, Stančáková A, Abboud HE, Boeing H, Giedraitis V, Prabhakaran D, Gottesman O, Scott J, Carey J, Kwan P, Grant G, Smith JD, Neale BM, Purcell S, Butterworth AS, Howson JMM, Lee HM, Lu Y, Kwak SH, Zhao W, Danesh J, Lam VKL, Park KS, Saleheen D, So WY, Tam CHT, Afzal U, Aguilar D, Arya R, Aung T, Chan E, Navarro C, Cheng CY, Palli D, Correa A, Curran JE, Rybin D, Farook VS, Fowler SP, Freedman BI, Griswold M, Hale DE, Hicks PJ, Khor CC, Kumar S, Lehne B, Thuillier D, Lim WY, Liu J, van der Schouw YT, Loh M, Musani SK, Puppala S, Scott WR, Yengo L, Tan ST, Taylor HA Jr, Thameem F, Wilson G Sr, Wong TY, Njølstad PR, Levy JC, Mangino M, Bonnycastle LL, Schwarzmayr T, Fadista J, Surdulescu GL, Herder C, Groves CJ, Wieland T, Bork-Jensen J, Brandslund I, Christensen C, Koistinen HA, Doney ASF, Kinnunen L, Esko T, Farmer AJ, Hakaste L, Hodgkiss D, Kravic J, Lyssenko V, Hollensted M, Jørgensen ME, Jørgensen T, Ladenvall C, Justesen JM, Käräjämäki A, Kriebel J, Rathmann W, Lannfelt L, Lauritzen T, Narisu N, Linneberg A, Melander O, Milani L, Neville M, Orho-Melander M, Qi L, Qi Q, Roden M, Rolandsson O, Swift A, Rosengren AH, Stirrups K, Wood AR, Mihailov E, Blancher C, Carneiro MO, Maguire J, Poplin R, Shakir K, Fennell T, DePristo M, de Angelis MH, Deloukas P, Gjesing AP, Jun G, Nilsson P, Murphy J, Onofrio R, Thorand B, Hansen T, Meisinger C, Hu FB, Isomaa B, Karpe F, Liang L, Peters A, Huth C, O'Rahilly SP, Palmer CNA, Pedersen O, Rauramaa R, Tuomilehto J, Salomaa V, Watanabe RM, Syvänen AC, Bergman RN, Bharadwaj D, Bottinger EP, Cho YS, Chandak GR, Chan JCN, Chia KS, Daly MJ, Ebrahim SB, Langenberg C, Elliott P, Jablonski KA, Lehman DM, Jia W, Ma RCW, Pollin TI, Sandhu M, Tandon N, Froguel P, Barroso I, Teo YY, Zeggini E, Loos RJF, Small KS, Ried JS, DeFronzo RA, Grallert H, Glaser B, Metspalu A, Wareham NJ, Walker M, Banks E, Gieger C, Ingelsson E, Im HK, Illig T, Franks PW, Buck G, Trakalo J, Buck D, Prokopenko I, Mägi R, Lind L, Farjoun Y, Owen KR, Gloyn AL, Strauch K, Tuomi T, Kooner JS, Lee JY, Park T, Donnelly P, Morris AD, Hattersley AT, Bowden DW, Collins FS, Atzmon G, Chambers JC, Spector TD, Laakso M, Strom TM, Bell GI, Blangero J, Duggirala R, Tai ES, McVean G, Hanis CL, Wilson JG, Seielstad M, Frayling TM, Meigs JB, Cox NJ, Sladek R, Lander ES, Gabriel S, Burtt NP, Mohlke KL, Meitinger T, Groop L, Abecasis G, Florez JC, Scott LJ, Morris AP, Kang HM, Boehnke M, Altshuler D, McCarthy MI. Fuchsberger C, et al. Among authors: schwarzmayr t. Nature. 2016 Aug 4;536(7614):41-47. doi: 10.1038/nature18642. Epub 2016 Jul 11. Nature. 2016. PMID: 27398621 Free PMC article.
Genetic diagnosis of Mendelian disorders via RNA sequencing.
Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H. Kremer LS, et al. Among authors: schwarzmayr t. Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824. Nat Commun. 2017. PMID: 28604674 Free PMC article.
Mitochondrial Regulation of the 26S Proteasome.
Meul T, Berschneider K, Schmitt S, Mayr CH, Mattner LF, Schiller HB, Yazgili AS, Wang X, Lukas C, Schlesser C, Prehn C, Adamski J, Graf E, Schwarzmayr T, Perocchi F, Kukat A, Trifunovic A, Kremer L, Prokisch H, Popper B, von Toerne C, Hauck SM, Zischka H, Meiners S. Meul T, et al. Among authors: schwarzmayr t. Cell Rep. 2020 Aug 25;32(8):108059. doi: 10.1016/j.celrep.2020.108059. Cell Rep. 2020. PMID: 32846138 Free article.
Long-Term Cold Adaptation Does Not Require FGF21 or UCP1.
Keipert S, Kutschke M, Ost M, Schwarzmayr T, van Schothorst EM, Lamp D, Brachthäuser L, Hamp I, Mazibuko SE, Hartwig S, Lehr S, Graf E, Plettenburg O, Neff F, Tschöp MH, Jastroch M. Keipert S, et al. Among authors: schwarzmayr t. Cell Metab. 2017 Aug 1;26(2):437-446.e5. doi: 10.1016/j.cmet.2017.07.016. Cell Metab. 2017. PMID: 28768181 Free article.
Transcriptome and genome sequencing uncovers functional variation in humans.
Lappalainen T, Sammeth M, Friedländer MR, 't Hoen PA, Monlong J, Rivas MA, Gonzàlez-Porta M, Kurbatova N, Griebel T, Ferreira PG, Barann M, Wieland T, Greger L, van Iterson M, Almlöf J, Ribeca P, Pulyakhina I, Esser D, Giger T, Tikhonov A, Sultan M, Bertier G, MacArthur DG, Lek M, Lizano E, Buermans HP, Padioleau I, Schwarzmayr T, Karlberg O, Ongen H, Kilpinen H, Beltran S, Gut M, Kahlem K, Amstislavskiy V, Stegle O, Pirinen M, Montgomery SB, Donnelly P, McCarthy MI, Flicek P, Strom TM; Geuvadis Consortium, Lehrach H, Schreiber S, Sudbrak R, Carracedo A, Antonarakis SE, Häsler R, Syvänen AC, van Ommen GJ, Brazma A, Meitinger T, Rosenstiel P, Guigó R, Gut IG, Estivill X, Dermitzakis ET. Lappalainen T, et al. Among authors: schwarzmayr t. Nature. 2013 Sep 26;501(7468):506-11. doi: 10.1038/nature12531. Epub 2013 Sep 15. Nature. 2013. PMID: 24037378 Free PMC article.
Intermuscular adipose tissue directly modulates skeletal muscle insulin sensitivity in humans.
Sachs S, Zarini S, Kahn DE, Harrison KA, Perreault L, Phang T, Newsom SA, Strauss A, Kerege A, Schoen JA, Bessesen DH, Schwarzmayr T, Graf E, Lutter D, Krumsiek J, Hofmann SM, Bergman BC. Sachs S, et al. Among authors: schwarzmayr t. Am J Physiol Endocrinol Metab. 2019 May 1;316(5):E866-E879. doi: 10.1152/ajpendo.00243.2018. Epub 2019 Jan 8. Am J Physiol Endocrinol Metab. 2019. PMID: 30620635 Free PMC article.
Characterization of circular RNAs in human, mouse and rat hearts.
Werfel S, Nothjunge S, Schwarzmayr T, Strom TM, Meitinger T, Engelhardt S. Werfel S, et al. Among authors: schwarzmayr t. J Mol Cell Cardiol. 2016 Sep;98:103-7. doi: 10.1016/j.yjmcc.2016.07.007. Epub 2016 Jul 28. J Mol Cell Cardiol. 2016. PMID: 27476877 Free article.
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
Wagner M, Osborn DPS, Gehweiler I, Nagel M, Ulmer U, Bakhtiari S, Amouri R, Boostani R, Hentati F, Hockley MM, Hölbling B, Schwarzmayr T, Karimiani EG, Kernstock C, Maroofian R, Müller-Felber W, Ozkan E, Padilla-Lopez S, Reich S, Reichbauer J, Darvish H, Shahmohammadibeni N, Tafakhori A, Vill K, Zuchner S, Kruer MC, Winkelmann J, Jamshidi Y, Schüle R. Wagner M, et al. Among authors: schwarzmayr t. Nat Commun. 2019 Oct 21;10(1):4790. doi: 10.1038/s41467-019-12620-9. Nat Commun. 2019. PMID: 31636353 Free PMC article.
A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.
Fernandes-Rosa FL, Daniil G, Orozco IJ, Göppner C, El Zein R, Jain V, Boulkroun S, Jeunemaitre X, Amar L, Lefebvre H, Schwarzmayr T, Strom TM, Jentsch TJ, Zennaro MC. Fernandes-Rosa FL, et al. Among authors: schwarzmayr t. Nat Genet. 2018 Mar;50(3):355-361. doi: 10.1038/s41588-018-0053-8. Epub 2018 Feb 5. Nat Genet. 2018. PMID: 29403012 Free article.
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