| The revised Ghent nosology for the Marfan syndrome BL Loeys, HC Dietz, AC Braverman, BL Callewaert, J De Backer, ... Journal of medical genetics 47 (7), 476-485, 2010 | 2434 | 2010 |
| Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome JP Habashi, DP Judge, TM Holm, RD Cohn, BL Loeys, TK Cooper, ... Science 312 (5770), 117-121, 2006 | 2042 | 2006 |
| A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 BL Loeys, J Chen, ER Neptune, DP Judge, M Podowski, T Holm, ... Nature genetics 37 (3), 275-281, 2005 | 1990 | 2005 |
| Aneurysm syndromes caused by mutations in the TGF-β receptor BL Loeys, U Schwarze, T Holm, BL Callewaert, GH Thomas, H Pannu, ... New England Journal of Medicine 355 (8), 788-798, 2006 | 1863 | 2006 |
| Angiotensin II blockade and aortic-root dilation in Marfan's syndrome BS Brooke, JP Habashi, DP Judge, N Patel, B Loeys, HC Dietz III New England Journal of Medicine 358 (26), 2787-2795, 2008 | 980 | 2008 |
| Angiotensin II type 1 receptor blockade attenuates TGF-β–induced failure of muscle regeneration in multiple myopathic states RD Cohn, C Van Erp, JP Habashi, AA Soleimani, EC Klein, MT Lisi, ... Nature medicine 13 (2), 204-210, 2007 | 783 | 2007 |
| Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study L Faivre, G Collod-Beroud, BL Loeys, A Child, C Binquet, E Gautier, ... The American Journal of Human Genetics 81 (3), 454-466, 2007 | 609 | 2007 |
| Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation MA Deardorff, M Kaur, D Yaeger, A Rampuria, S Korolev, J Pie, ... The American Journal of Human Genetics 80 (3), 485-494, 2007 | 603 | 2007 |
| Atenolol versus losartan in children and young adults with Marfan's syndrome RV Lacro, HC Dietz, LA Sleeper, AT Yetman, TJ Bradley, SD Colan, ... New England Journal of Medicine 371 (22), 2061-2071, 2014 | 552 | 2014 |
| Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice TM Holm, JP Habashi, JJ Doyle, D Bedja, YC Chen, C Van Erp, ... Science 332 (6027), 358-361, 2011 | 542 | 2011 |
| Loeys–Dietz syndrome: a primer for diagnosis and management G MacCarrick, JH Black, S Bowdin, I El-Hamamsy, ... Genetics in Medicine 16 (8), 576-587, 2014 | 540 | 2014 |
| The molecular genetics of Marfan syndrome and related disorders PN Robinson, E Arteaga-Solis, C Baldock, G Collod-Béroud, P Booms, ... Journal of medical genetics 43 (10), 769-787, 2006 | 509 | 2006 |
| Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm ME Lindsay, D Schepers, NA Bolar, JJ Doyle, E Gallo, J Fert-Bober, ... Nature genetics 44 (8), 922-927, 2012 | 489 | 2012 |
| Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin EA Otto, B Loeys, H Khanna, J Hellemans, R Sudbrak, S Fan, U Muerb, ... Nature genetics 37 (3), 282-288, 2005 | 451 | 2005 |
| 2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC) E Arbelo, A Protonotarios, JR Gimeno, E Arbustini, R Barriales-Villa, ... European heart journal 44 (37), 3503-3626, 2023 | 442 | 2023 |
| 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 | 435 | 2006 |
| Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database G Collod‐Béroud, S Le Bourdelles, L Ades, L Ala‐Kokko, P Booms, ... Human mutation 22 (3), 199-208, 2003 | 409 | 2003 |
| Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa B Loeys, L Van Maldergem, G Mortier, P Coucke, S Gerniers, ... Human molecular genetics 11 (18), 2113-2118, 2002 | 388 | 2002 |
| Circulating transforming growth factor-β in Marfan syndrome P Matt, F Schoenhoff, J Habashi, T Holm, C Van Erp, D Loch, OD Carlson, ... Circulation 120 (6), 526-532, 2009 | 345 | 2009 |
| Ehlers-Danlos syndromes and Marfan syndrome B Callewaert, F Malfait, B Loeys, A De Paepe Best practice & research Clinical rheumatology 22 (1), 165-189, 2008 | 313 | 2008 |
