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Page 1
Congenital heart disease risk loci identified by genome-wide association study in European patients.
Lahm H, Jia M, Dreßen M, Wirth F, Puluca N, Gilsbach R, Keavney BD, Cleuziou J, Beck N, Bondareva O, Dzilic E, Burri M, König KC, Ziegelmüller JA, Abou-Ajram C, Neb I, Zhang Z, Doppler SA, Mastantuono E, Lichtner P, Eckstein G, Hörer J, Ewert P, Priest JR, Hein L, Lange R, Meitinger T, Cordell HJ, Müller-Myhsok B, Krane M. Lahm H, et al. J Clin Invest. 2021 Jan 19;131(2):e141837. doi: 10.1172/JCI141837. J Clin Invest. 2021. PMID: 33201861 Free PMC article. Clinical Trial.
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.
Winkelmann J, Czamara D, Schormair B, Knauf F, Schulte EC, Trenkwalder C, Dauvilliers Y, Polo O, Högl B, Berger K, Fuhs A, Gross N, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Xiong L, Montplaisir J, Rouleau GA, Fietze I, Vávrová J, Kemlink D, Sonka K, Nevsimalova S, Lin SC, Wszolek Z, Vilariño-Güell C, Farrer MJ, Gschliesser V, Frauscher B, Falkenstetter T, Poewe W, Allen RP, Earley CJ, Ondo WG, Le WD, Spieler D, Kaffe M, Zimprich A, Kettunen J, Perola M, Silander K, Cournu-Rebeix I, Francavilla M, Fontenille C, Fontaine B, Vodicka P, Prokisch H, Lichtner P, Peppard P, Faraco J, Mignot E, Gieger C, Illig T, Wichmann HE, Müller-Myhsok B, Meitinger T. Winkelmann J, et al. PLoS Genet. 2011 Jul;7(7):e1002171. doi: 10.1371/journal.pgen.1002171. Epub 2011 Jul 14. PLoS Genet. 2011. PMID: 21779176 Free PMC article.
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.
Winkelmann J, Schormair B, Lichtner P, Ripke S, Xiong L, Jalilzadeh S, Fulda S, Pütz B, Eckstein G, Hauk S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Peglau I, Eisensehr I, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller-Myhsok B, Meitinger T. Winkelmann J, et al. Nat Genet. 2007 Aug;39(8):1000-6. doi: 10.1038/ng2099. Epub 2007 Jul 18. Nat Genet. 2007. PMID: 17637780
PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.
Schormair B, Kemlink D, Roeske D, Eckstein G, Xiong L, Lichtner P, Ripke S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Högl B, Frauscher B, Gschliesser V, Poewe W, Peglau I, Vodicka P, Vávrová J, Sonka K, Nevsimalova S, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller-Myhsok B, Meitinger T, Winkelmann J. Schormair B, et al. Nat Genet. 2008 Aug;40(8):946-8. doi: 10.1038/ng.190. Epub 2008 Jul 27. Nat Genet. 2008. PMID: 18660810
Restless legs syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon.
Spieler D, Kaffe M, Knauf F, Bessa J, Tena JJ, Giesert F, Schormair B, Tilch E, Lee H, Horsch M, Czamara D, Karbalai N, von Toerne C, Waldenberger M, Gieger C, Lichtner P, Claussnitzer M, Naumann R, Müller-Myhsok B, Torres M, Garrett L, Rozman J, Klingenspor M, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Beckers J, Hölter SM, Meitinger T, Hauck SM, Laumen H, Wurst W, Casares F, Gómez-Skarmeta JL, Winkelmann J. Spieler D, et al. Genome Res. 2014 Apr;24(4):592-603. doi: 10.1101/gr.166751.113. Epub 2014 Mar 18. Genome Res. 2014. PMID: 24642863 Free PMC article.
Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndrome.
Schulte EC, Schramm K, Schurmann C, Lichtner P, Herder C, Roden M, Gieger C, Peters A, Trenkwalder C, Högl B, Frauscher B, Berger K, Fietze I, Gross N, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Zimprich A, Völzke H, Schminke U, Nauck M, Illig T, Meitinger T, Müller-Myhsok B, Prokisch H, Winkelmann J. Schulte EC, et al. PLoS One. 2014 May 29;9(5):e98092. doi: 10.1371/journal.pone.0098092. eCollection 2014. PLoS One. 2014. PMID: 24875634 Free PMC article.
MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease.
Schormair B, Plag J, Kaffe M, Gross N, Czamara D, Samtleben W, Lichtner P, Ströhle A, Stefanidis I, Vainas A, Dardiotis E, Sakkas GK, Gieger C, Müller-Myhsok B, Meitinger T, Heemann U, Hadjigeorgiou GM, Oexle K, Winkelmann J. Schormair B, et al. J Med Genet. 2011 Jul;48(7):462-6. doi: 10.1136/jmg.2010.087858. Epub 2011 May 14. J Med Genet. 2011. PMID: 21572129 Free PMC article.
Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation.
Andlauer TF, Buck D, Antony G, Bayas A, Bechmann L, Berthele A, Chan A, Gasperi C, Gold R, Graetz C, Haas J, Hecker M, Infante-Duarte C, Knop M, Kümpfel T, Limmroth V, Linker RA, Loleit V, Luessi F, Meuth SG, Mühlau M, Nischwitz S, Paul F, Pütz M, Ruck T, Salmen A, Stangel M, Stellmann JP, Stürner KH, Tackenberg B, Then Bergh F, Tumani H, Warnke C, Weber F, Wiendl H, Wildemann B, Zettl UK, Ziemann U, Zipp F, Arloth J, Weber P, Radivojkov-Blagojevic M, Scheinhardt MO, Dankowski T, Bettecken T, Lichtner P, Czamara D, Carrillo-Roa T, Binder EB, Berger K, Bertram L, Franke A, Gieger C, Herms S, Homuth G, Ising M, Jöckel KH, Kacprowski T, Kloiber S, Laudes M, Lieb W, Lill CM, Lucae S, Meitinger T, Moebus S, Müller-Nurasyid M, Nöthen MM, Petersmann A, Rawal R, Schminke U, Strauch K, Völzke H, Waldenberger M, Wellmann J, Porcu E, Mulas A, Pitzalis M, Sidore C, Zara I, Cucca F, Zoledziewska M, Ziegler A, Hemmer B, Müller-Myhsok B. Andlauer TF, et al. Sci Adv. 2016 Jun 17;2(6):e1501678. doi: 10.1126/sciadv.1501678. eCollection 2016 Jun. Sci Adv. 2016. PMID: 27386562 Free PMC article.
Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.
Opherk C, Gonik M, Duering M, Malik R, Jouvent E, Hervé D, Adib-Samii P, Bevan S, Pianese L, Silvestri S, Dotti MT, De Stefano N, Liem M, Boon EM, Pescini F, Pachai C, Bracoud L, Müller-Myhsok B, Meitinger T, Rost N, Pantoni L, Lesnik Oberstein S, Federico A, Ragno M, Markus HS, Tournier-Lasserve E, Rosand J, Chabriat H, Dichgans M. Opherk C, et al. Stroke. 2014 Apr;45(4):968-72. doi: 10.1161/STROKEAHA.113.004461. Epub 2014 Feb 27. Stroke. 2014. PMID: 24578207 Free article.
Dilution of candidates: the case of iron-related genes in restless legs syndrome.
Oexle K, Schormair B, Ried JS, Czamara D, Heim K, Frauscher B, Högl B, Trenkwalder C, Martin Fiedler G, Thiery J, Lichtner P, Prokisch H, Specht M, Müller-Myhsok B, Döring A, Gieger C, Peters A, Wichmann HE, Meitinger T, Winkelmann J. Oexle K, et al. Eur J Hum Genet. 2013 Apr;21(4):410-4. doi: 10.1038/ejhg.2012.193. Epub 2012 Aug 29. Eur J Hum Genet. 2013. PMID: 22929029 Free PMC article.
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