• Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus 

      Medina-Gomez C., Kemp J.P., Dimou N.L., Kreiner E., Chesi A., Zemel B.S., Bønnelykke K., Boer C.G., Ahluwalia T.S., Bisgaard H., Evangelou E., Heppe D.H.M., Bonewald L.F., Gorski J.P., Ghanbari M., Demissie S., Duque G., Maurano M.T., Kiel D.P., Hsu Y.-H., Van Der Eerden B.C.J., Ackert-Bicknell C., Reppe S., Gautvik K.M., Raastad T., Karasik D., Van De Peppel J., Jaddoe V.W.V., Uitterlinden A.G., Tobias J.H., Grant S.F.A., Bagos P.G., Evans D.M., Rivadeneira F. (2017)
      Bone mineral density is known to be a heritable, polygenic trait whereas genetic variants contributing to lean mass variation remain largely unknown. We estimated the shared SNP heritability and performed a bivariate GWAS ...
    • Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis 

      Schormair B., Zhao C., Bell S., Tilch E., Salminen A.V., Pütz B., Dauvilliers Y., Stefani A., Högl B., Poewe W., Kemlink D., Sonka K., Bachmann C.G., Paulus W., Trenkwalder C., Oertel W.H., Hornyak M., Teder-Laving M., Metspalu A., Hadjigeorgiou G.M., Polo O., Fietze I., Ross O.A., Wszolek Z., Butterworth A.S., Soranzo N., Ouwehand W.H., Roberts D.J., Danesh J., Allen R.P., Earley C.J., Ondo W.G., Xiong L., Montplaisir J., Gan-Or Z., Perola M., Vodicka P., Dina C., Franke A., Tittmann L., Stewart A.F.R., Shah S.H., Gieger C., Peters A., Rouleau G.A., Berger K., Oexle K., Di Angelantonio E., Hinds D.A., Müller-Myhsok B., Winkelmann J., Balkau B., Ducimetière P., Eschwège E., Rancière F., Alhenc-Gelas F., Gallois Y., Girault A., Fumeron F., Marre M., Roussel R., Bonnet F., Bonnefond A., Cauchi S., Froguel P., Cogneau J., Born C., Caces E., Cailleau M., Lantieri O., Moreau J.G., Rakotozafy F., Tichet J., Vol S., Agee M., Alipanahi B., Auton A., Bell R.K., Bryc K., Elson S.L., Fontanillas P., Furlotte N.A., Hinds D.A., Hromatka B.S., Huber K.E., Kleinman A., Litterman N.K., McIntyre M.H., Mountain J.L., Northover C.A., Pitts S.J., Sathirapongsasuti J.F., Sazonova O.V., Shelton J.F., Shringarpure S., Tian C., Tung J.Y., Vacic V., Wilson C.H., 23andMe Research Team, DESIR study group, 23andMe Research Team, DESIR study group, DESIR study group, DESIR study group (2017)
      Background Restless legs syndrome is a prevalent chronic neurological disorder with potentially severe mental and physical health consequences. Clearer understanding of the underlying pathophysiology is needed to improve ...
    • Investigating the genetic characteristics of CAD: Is there a role for myocardial perfusion imaging techniques? 

      Angelidis G., Valotassiou V., Satra M., Psimadas D., Koutsikos J., Skoularigis J., Kollia P., Georgoulias P. (2022)
      Several environmental and genetic factors have been found to influence the development and progression of coronary artery disease (CAD). Although the effects of the environmental hazards on CAD pathophysiology are well ...
    • Lack of association between TREM2 rs75932628 variant and amyotrophic lateral sclerosis 

      Siokas V., Aloizou A.-M., Liampas I., Tsouris Z., Mentis A.-F.A., Nasios G., Papadimitriou D., Bogdanos D.P., Hadjigeorgiou G.M., Dardiotis E. (2021)
      Amyotrophic lateral sclerosis (ALS) is a multifactorial neurodegenerative disease. Inflammatory processes are among the mechanisms that are implicated in ALS pathogenesis. The TREM2 rs75932628 T variant may influence the ...
    • Molecular characteristics and predictors of mortality among Gram-positive bacteria isolated from bloodstream infections in critically ill patients during a 5-year period (2012–2016) 

      Papadimitriou-Olivgeris M., Kolonitsiou F., Karamouzos V., Tsilipounidaki K., Nikolopoulou A., Fligou F., Marangos M., Petinaki E., Spiliopoulou I. (2020)
      To identify the molecular characteristics of Gram-positive cocci isolated from blood cultures and clinical outcome among critically ill patients. This retrospective study was conducted in the general intensive care unit ...
    • Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13 

      Kemlink, D.; Plazzi, G.; Vetrugno, R.; Provini, F.; Polo, O.; Stiasny-Kolster, K.; Oertel, W.; Nevsimalova, S.; Sonka, K.; Högl, B.; Frauscher, B.; Hadjigeorgiou, G. M.; Pramstaller, P. P.; Lichtner, P.; Meitinger, T.; Müller-Myshok, B.; Winkelmann, J.; Montagna, P. (2008)
      Five loci for restless legs syndrome (RLS) on chromosomes 12q, 14q, 9p, 2q, and 20p (RLS1-RLS5) have been mapped in RLS families, with a recessive in the first and autosomal-dominant mode of inheritance in the latter cases. ...