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Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche JRB Perry, F Day, CE Elks, P Sulem, DJ Thompson, T Ferreira, C He, ... Nature 514 (7520), 92-97, 2014 | 648 | 2014 |
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies CE Elks, JRB Perry, P Sulem, DI Chasman, N Franceschini, C He, ... Nature genetics 42 (12), 1077-1085, 2010 | 612 | 2010 |
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome TC Pansuriya, R van Eijk, P d'Adamo, MAJH van Ruler, ML Kuijjer, ... Nature genetics 43 (12), 1256-1261, 2011 | 600 | 2011 |
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function C Pattaro, A Teumer, M Gorski, AY Chu, M Li, V Mijatovic, M Garnaas, ... Nature communications 7 (1), 10023, 2016 | 529 | 2016 |
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure LV Wain, GC Verwoert, PF O'reilly, G Shi, T Johnson, AD Johnson, ... Nature genetics 43 (10), 1005-1011, 2011 | 510 | 2011 |
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion A Spinazzola, C Viscomi, E Fernandez-Vizarra, F Carrara, P D'Adamo, ... Nature genetics 38 (5), 570-575, 2006 | 494 | 2006 |
New gene functions in megakaryopoiesis and platelet formation C Gieger, A Radhakrishnan, A Cvejic, W Tang, E Porcu, G Pistis, ... Nature 480 (7376), 201-208, 2011 | 493 | 2011 |
Genetic structure of Europeans: a view from the north–east M Nelis, T Esko, R Mägi, F Zimprich, A Zimprich, D Toncheva, ... PloS one 4 (5), e5472, 2009 | 434 | 2009 |
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways L Stolk, JRB Perry, DI Chasman, C He, M Mangino, P Sulem, M Barbalic, ... Nature genetics 44 (3), 260-268, 2012 | 396 | 2012 |
Seventy-five genetic loci influencing the human red blood cell P Van Der Harst, W Zhang, I Mateo Leach, A Rendon, N Verweij, J Sehmi, ... Nature 492 (7429), 369-375, 2012 | 395 | 2012 |
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization DE Arking, SL Pulit, L Crotti, P Van Der Harst, PB Munroe, TT Koopmann, ... Nature genetics 46 (8), 826-836, 2014 | 346 | 2014 |
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy C Giordano, L Iommarini, L Giordano, A Maresca, A Pisano, ML Valentino, ... Brain 137 (2), 335-353, 2014 | 313 | 2014 |
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy D Ghezzi, P Goffrini, G Uziel, R Horvath, T Klopstock, H Lochmüller, ... Nature genetics 41 (6), 654-656, 2009 | 301 | 2009 |
Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor P D’Adamo, F Novara, O Zuffardi, G Uziel, M Zeviani The American Journal of Human Genetics 86, 639-649, 2010 | 249 | 2010 |
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Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies D Ghezzi, P Arzuffi, M Zordan, C Da Re, C Lamperti, C Benna, P D'Adamo, ... Nature genetics 43 (3), 259-263, 2011 | 218 | 2011 |
Variation in the Bitter‐taste Receptor Gene TAS2R38, and Adiposity in a Genetically Isolated Population in Southern Italy BJ Tepper, Y Koelliker, L Zhao, NV Ullrich, C Lanzara, P d'Adamo, ... Obesity 16 (10), 2289-2295, 2008 | 217 | 2008 |
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations CM O'Seaghdha, H Wu, Q Yang, K Kapur, I Guessous, AM Zuber, ... PLoS genetics 9 (9), e1003796, 2013 | 194 | 2013 |