Mutation in blood coagulation factor V associated with resistance to activated protein C RM Bertina, BPC Koeleman, T Koster, FR Rosendaal, RJ Dirven, ... Nature 369 (6475), 64-67, 1994 | 5552 | 1994 |
Analysis of shared heritability in common disorders of the brain Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ... Science 360 (6395), eaap8757, 2018 | 1456 | 2018 |
Investigating neural primacy in Major Depressive Disorder: multivariate Granger causality analysis of resting-state fMRI time-series data JP Hamilton, G Chen, ME Thomason, ME Schwartz, IH Gotlib Molecular psychiatry 16 (7), 763-772, 2011 | 724* | 2011 |
15q13. 3 microdeletions increase risk of idiopathic generalized epilepsy I Helbig, HC Mefford, AJ Sharp, M Guipponi, M Fichera, A Franke, ... Nature genetics 41 (2), 160-162, 2009 | 689 | 2009 |
Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families BP Koeleman, PH Reitsma, CF Allaart, RM Bertina | 664 | 1994 |
Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism J Emmerich, FR Rosendaal, M Cattaneo, M Margaglione, V De Stefano, ... Thrombosis and haemostasis 86 (09), 809-816, 2001 | 553 | 2001 |
Recurrent microdeletions at 15q11. 2 and 16p13. 11 predispose to idiopathic generalized epilepsies CGF de Kovel, H Trucks, I Helbig, HC Mefford, C Baker, C Leu, C Kluck, ... Brain 133 (1), 23-32, 2010 | 514 | 2010 |
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus TRDJ Radstake, O Gorlova, B Rueda, JE Martin, BZ Alizadeh, ... Nature genetics 42 (5), 426-429, 2010 | 469 | 2010 |
Incidence of venous thromboembolism in families with inherited thrombophilia P Simioni, BJ Sanson, P Prandoni, D Tormene, PW Friederich, B Girolami, ... Thrombosis and haemostasis 81 (02), 198-202, 1999 | 460 | 1999 |
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ... The American Journal of Human Genetics 95 (4), 360-370, 2014 | 458 | 2014 |
Hyperhomocysteinemia is a risk factor of recurrent venous thromboembolism S Eichinger, A Stümpflen, M Hirschl, C Bialonczyk, K Herkner, M Stain, ... Thrombosis and haemostasis 80 (10), 566-569, 1998 | 341 | 1998 |
Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia TGW Letteboer, JJ Mager, RJ Snijder, BPC Koeleman, D Lindhout, ... Journal of medical genetics 43 (4), 371-377, 2006 | 326 | 2006 |
Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect AJ Monsuur, PIW Bakker, BZ Alizadeh, A Zhernakova, MR Bevova, ... Nature genetics 37 (12), 1341-1344, 2005 | 322 | 2005 |
The phenotypic spectrum of SCN8A encephalopathy J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ... Neurology 84 (5), 480-489, 2015 | 305 | 2015 |
Case-control study of the frequency of thrombophilic disorders in couples with late foetal loss and no thrombotic antecedent JC Gris, I Quéré, F Monpeyrou, E Mercier, S Ripart-Neveu, ML Tailland, ... Thrombosis and haemostasis 81 (06), 891-899, 1999 | 304 | 1999 |
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy S Syrbe, UBS Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ... Nature genetics 47 (4), 393-399, 2015 | 300 | 2015 |
KIR in type 1 diabetes: disparate distribution of activating and inhibitory natural killer cell receptors in patients versus HLA-matched control subjects AR van der Slik, BPC Koeleman, W Verduijn, GJ Bruining, BO Roep, ... Diabetes 52 (10), 2639-2642, 2003 | 292 | 2003 |
De novo variants in neurodevelopmental disorders with epilepsy HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ... Nature genetics 50 (7), 1048-1053, 2018 | 285 | 2018 |
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy O Gorlova, JE Martin, B Rueda, BPC Koeleman, J Ying, M Teruel, ... PLoS genetics 7 (7), e1002178, 2011 | 270 | 2011 |
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome A Suls, JA Jaehn, A Kecskés, Y Weber, S Weckhuysen, DC Craiu, ... The American Journal of Human Genetics 93 (5), 967-975, 2013 | 264 | 2013 |