2014 ESC guidelines on the diagnosis and treatment of aortic diseases R Erbel, V Aboyans, C Boileau, E Bossone, R Di Bartolomeo, ... Polish Heart Journal (Kardiologia Polska) 72 (12), 1169-1252, 2014 | 5146 | 2014 |
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia M Abifadel, M Varret, JP Rabès, D Allard, K Ouguerram, M Devillers, ... Nature genetics 34 (2), 154-156, 2003 | 3658 | 2003 |
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of … BG Nordestgaard, MJ Chapman, SE Humphries, HN Ginsberg, L Masana, ... European heart journal 34 (45), 3478-3490, 2013 | 3202 | 2013 |
Diagnosis and management of aortic dissection: task force on aortic dissection, European society of cardiology R Erbel, F Alfonso, C Boileau, O Dirsch, B Eber, A Haverich, H Rakowski, ... European heart journal 22 (18), 1642-1681, 2001 | 1759 | 2001 |
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on … M Cuchel, E Bruckert, HN Ginsberg, FJ Raal, RD Santos, RA Hegele, ... European heart journal 35 (32), 2146-2157, 2014 | 1191 | 2014 |
Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment A Wiegman, SS Gidding, GF Watts, MJ Chapman, HN Ginsberg, M Cuchel, ... European heart journal 36 (36), 2425-2437, 2015 | 987 | 2015 |
NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol S Benjannet, D Rhainds, R Essalmani, J Mayne, L Wickham, W Jin, ... Journal of Biological Chemistry 279 (47), 48865-48875, 2004 | 817 | 2004 |
Heterozygous TGFBR2 mutations in Marfan syndrome T Mizuguchi, G Collod-Beroud, T Akiyama, M Abifadel, N Harada, ... Nature genetics 36 (8), 855-860, 2004 | 809 | 2004 |
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 | 635 | 2007 |
Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells L de Beaucoudrey, A Puel, O Filipe-Santos, A Cobat, P Ghandil, ... Journal of Experimental Medicine 205 (7), 1543-1550, 2008 | 514 | 2008 |
MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease PA Juge, JS Lee, E Ebstein, H Furukawa, E Dobrinskikh, S Gazal, ... New England Journal of Medicine 379 (23), 2209-2219, 2018 | 465 | 2018 |
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 | 424 | 2003 |
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome C Boileau, DC Guo, N Hanna, ES Regalado, D Detaint, L Gong, M Varret, ... Nature genetics 44 (8), 916-921, 2012 | 411 | 2012 |
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease M Abifadel, JP Rabès, M Devillers, A Munnich, D Erlich, C Junien, ... Human mutation 30 (4), 520-529, 2009 | 331 | 2009 |
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome L Faivre, RJ Gorlin, MK Wirtz, M Godfrey, N Dagoneau, JR Samples, ... Journal of medical genetics 40 (1), 34-36, 2003 | 326 | 2003 |
C57BL/6J and A/J mice fed a high‐fat diet delineate components of metabolic syndrome C Gallou‐Kabani, A Vigé, MS Gross, JP Rabès, C Boileau, ... Obesity 15 (8), 1996-2005, 2007 | 314 | 2007 |
Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders D Attias, C Stheneur, C Roy, G Collod-Béroud, D Detaint, L Faivre, ... Circulation 120 (25), 2541-2549, 2009 | 284 | 2009 |
Clinical validity of genes for heritable thoracic aortic aneurysm and dissection M Renard, C Francis, R Ghosh, AF Scott, PD Witmer, LC Adès, ... Journal of the American College of Cardiology 72 (6), 605-615, 2018 | 273 | 2018 |
Genome-Wide Scan Identifies TNIP1, PSORS1C1, and RHOB as Novel Risk Loci for Systemic Sclerosis Y Allanore, M Saad, P Dieudé, J Avouac, JHW Distler, P Amouyel, ... PLoS genetics 7 (7), e1002091, 2011 | 268 | 2011 |
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia D Allard, S Amsellem, M Abifadel, M Trillard, M Devillers, G Luc, M Krempf, ... Human mutation 26 (5), 497-497, 2005 | 254 | 2005 |