| New loci associated with kidney function and chronic kidney disease A Köttgen, C Pattaro, CA Böger, C Fuchsberger, M Olden, NL Glazer, ... Nature genetics 42 (5), 376-384, 2010 | 883 | 2010 |
| De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes JB Rivière, GM Mirzaa, BJ O'Roak, M Beddaoui, D Alcantara, RL Conway, ... Nature genetics 44 (8), 934-940, 2012 | 710 | 2012 |
| Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders M Wolff, KM Johannesen, UBS Hedrich, S Masnada, G Rubboli, ... Brain 140 (5), 1316-1336, 2017 | 514 | 2017 |
| Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL C Sobacchi, A Frattini, MM Guerrini, M Abinun, A Pangrazio, L Susani, ... Nature genetics 39 (8), 960-962, 2007 | 456 | 2007 |
| Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome PJ Coucke, A Willaert, MW Wessels, B Callewaert, N Zoppi, J De Backer, ... Nature genetics 38 (4), 452-457, 2006 | 433 | 2006 |
| Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder WG Leen, J Klepper, MM Verbeek, M Leferink, T Hofste, BG Van Engelen, ... Brain 133 (3), 655-670, 2010 | 424 | 2010 |
| Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum A Sarkozy, C Carta, S Moretti, G Zampino, MC Digilio, F Pantaleoni, ... Human mutation 30 (4), 695-702, 2009 | 341 | 2009 |
| A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases FW Verheijen, E Verbeek, N Aula, CEMT Beerens, AC Havelaar, ... Nature genetics 23 (4), 462-465, 1999 | 311 | 1999 |
| De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome JB Rivière, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ... Nature genetics 44 (4), 440-444, 2012 | 307 | 2012 |
| Magnetic resonance imaging pattern recognition in hypomyelinating disorders ME Steenweg, A Vanderver, S Blaser, A Bizzi, TJ De Koning, ... Brain 133 (10), 2971-2982, 2010 | 289 | 2010 |
| Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome MEC Meuwissen, R Schot, S Buta, G Oudesluijs, S Tinschert, SD Speer, ... Journal of Experimental Medicine 213 (7), 1163-1174, 2016 | 277 | 2016 |
| The metabolic syndrome, cardiopulmonary fitness, and subcutaneous trunk fat as independent determinants of arterial stiffness: the Amsterdam Growth and Health Longitudinal Study I Ferreira, RMA Henry, JWR Twisk, W van Mechelen, HCG Kemper, ... Archives of internal medicine 165 (8), 875-882, 2005 | 268 | 2005 |
| The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature MEC Meuwissen, DJJ Halley, LS Smit, MH Lequin, JM Cobben, R De Coo, ... Genetics in Medicine 17 (11), 843-853, 2015 | 260 | 2015 |
| Clinical and molecular delineation of the 17q21. 31 microdeletion syndrome DA Koolen, AJ Sharp, JA Hurst, HV Firth, SJL Knight, A Goldenberg, ... Journal of medical genetics 45 (11), 710-720, 2008 | 250 | 2008 |
| Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis S Hanks, S Adams, J Douglas, L Arbour, DJ Atherton, S Balci, H Bode, ... The American Journal of Human Genetics 73 (4), 791-800, 2003 | 245 | 2003 |
| XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia NC Hoch, H Hanzlikova, SL Rulten, M Tétreault, E Komulainen, L Ju, ... Nature 541 (7635), 87-91, 2017 | 244 | 2017 |
| C offin–S iris syndrome and the BAF complex: Genotype–phenotype Study in 63 patients GWE Santen, E Aten, AT Vulto‐van Silfhout, C Pottinger, BWM van Bon, ... Human mutation 34 (11), 1519-1528, 2013 | 232 | 2013 |
| Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan T Roscioli, EJ Kamsteeg, K Buysse, I Maystadt, J van Reeuwijk, ... Nature genetics 44 (5), 581-585, 2012 | 226 | 2012 |
| COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke M Jeanne, C Labelle-Dumais, J Jorgensen, WB Kauffman, GM Mancini, ... The American Journal of Human Genetics 90 (1), 91-101, 2012 | 221 | 2012 |
| TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins RA Kumar, DT Pilz, TD Babatz, TD Cushion, K Harvey, M Topf, L Yates, ... Human molecular genetics 19 (14), 2817-2827, 2010 | 218 | 2010 |
