| Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum O Le Saux, Z Urban, C Tschuch, K Csiszar, B Bacchelli, D Quaglino, ... Nature genetics 25 (2), 223-227, 2000 | 616 | 2000 |
| Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 U Kornak, E Reynders, A Dimopoulou, J Van Reeuwijk, B Fischer, ... Nature genetics 40 (1), 32-34, 2008 | 417 | 2008 |
| Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome V Hucthagowder, N Sausgruber, KH Kim, B Angle, LY Marmorstein, ... The American Journal of Human Genetics 78 (6), 1075-1080, 2006 | 338 | 2006 |
| Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6) A Iliás, Z Urbán, TL Seidl, O Le Saux, E Sinkó, CD Boyd, B Sarkadi, ... Journal of Biological Chemistry 277 (19), 16860-16867, 2002 | 292 | 2002 |
| A thrifty variant in CREBRF strongly influences body mass index in Samoans RL Minster, NL Hawley, CT Su, G Sun, EE Kershaw, H Cheng, OD Buhule, ... Nature genetics 48 (9), 1049-1054, 2016 | 283 | 2016 |
| Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome BR Pober, M Johnson, Z Urban The Journal of clinical investigation 118 (5), 1606-1615, 2008 | 242 | 2008 |
| Genetic disorders of the elastic fiber system DM Milewicz, Z Urbán, C Boyd Matrix Biology 19 (6), 471-480, 2000 | 238 | 2000 |
| Cutis laxa: a review DR Berk, DD Bentley, SJ Bayliss, A Lind, Z Urban Journal of the American Academy of Dermatology 66 (5), 842. e1-842. e17, 2012 | 229 | 2012 |
| Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome Z Urbán, S Riazi, TL Seidl, J Katahira, LB Smoot, D Chitayat, CD Boyd, ... The American Journal of Human Genetics 71 (1), 30-44, 2002 | 226 | 2002 |
| Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene Z Szabo, MW Crepeau, AL Mitchell, MJ Stephan, RA Puntel, KY Loke, ... Journal of medical genetics 43 (3), 255-258, 2006 | 181 | 2006 |
| Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development Z Urban, V Hucthagowder, N Schürmann, V Todorovic, L Zilberberg, ... The American Journal of Human Genetics 85 (5), 593-605, 2009 | 176 | 2009 |
| Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival V Hucthagowder, E Morava, U Kornak, DJ Lefeber, B Fischer, ... Human molecular genetics 18 (12), 2149-2165, 2009 | 162 | 2009 |
| 7q11. 23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Z Urbán, C Helms, G Fekete, K Csiszar, D Bonnet, A Munnich, ... American journal of human genetics 59 (4), 958, 1996 | 162 | 1996 |
| New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of five ELN mutations B Callewaert, M Renard, V Hucthagowder, B Albrecht, I Hausser, E Blair, ... Human mutation 32 (4), 445-455, 2011 | 160 | 2011 |
| Jagged1 (JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis RC Bauer, AO Laney, R Smith, J Gerfen, JJD Morrissette, ... Human mutation 31 (5), 594-601, 2010 | 149 | 2010 |
| Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin Z Urban, J Gao, FM Pope, EC Davis Journal of investigative dermatology 124 (6), 1193-1199, 2005 | 132 | 2005 |
| A quantitative evaluation of SAGE J Stollberg, J Urschitz, Z Urban, CD Boyd Genome Research 10 (8), 1241-1248, 2000 | 115 | 2000 |
| A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis TM Olson, VV Michels, Z Urban, K Cslszar, AM Christiano, DJ Driscoll, ... Human molecular genetics 4 (9), 1677-1679, 1995 | 115 | 1995 |
| Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa Q Hu, BL Loeys, PJ Coucke, A De Paepe, RP Mecham, J Choi, EC Davis, ... Human molecular genetics 15 (23), 3379-3386, 2006 | 113 | 2006 |
| Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa B Callewaert, CT Su, T Van Damme, P Vlummens, F Malfait, O Vanakker, ... Human mutation 34 (1), 111-121, 2013 | 101 | 2013 |
