Heart disease and stroke statistics—2017 update: a report from the American Heart Association EJ Benjamin, MJ Blaha, SE Chiuve, M Cushman, SR Das, R Deo, ... circulation 135 (10), e146-e603, 2017 | 17091 | 2017 |
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 | 3507 | 2003 |
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 | 792 | 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 | 790 | 2004 |
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 | 395 | 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 | 321 | 2009 |
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 | 252 | 2005 |
Apolipoprotein B100 Metabolism in Autosomal-Dominant Hypercholesterolemia Related to Mutations in PCSK9 K Ouguerram, M Chetiveaux, Y Zair, P Costet, M Abifadel, M Varret, ... Arteriosclerosis, thrombosis, and vascular biology 24 (8), 1448-1453, 2004 | 236 | 2004 |
A third major locus for autosomal dominant hypercholesterolemia maps to 1p34. 1-p32 M Varret, JP Rabes, B Saint-Jore, A Cenarro, JC Marinoni, F Civeira, ... The American journal of human genetics 64 (5), 1378-1387, 1999 | 235 | 1999 |
Genetic heterogeneity of autosomal dominant hypercholesterolemia M Varret, M Abifadel, JP Rabès, C Boileau Clinical genetics 73 (1), 1-13, 2008 | 227 | 2008 |
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections M Barbier, MS Gross, M Aubart, N Hanna, K Kessler, DC Guo, L Tosolini, ... The American Journal of Human Genetics 95 (6), 736-743, 2014 | 140 | 2014 |
Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia M Abifadel, M Guerin, S Benjannet, JP Rabès, W Le Goff, Z Julia, ... Atherosclerosis 223 (2), 394-400, 2012 | 139 | 2012 |
The UMD‐LDLR database: additions to the software and 490 new entries to the database L Villéger, M Abifadel, D Allard, JP Rabès, R Thiart, MJ Kotze, C Béroud, ... Human mutation 20 (2), 81-87, 2002 | 138 | 2002 |
Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation M Marduel, K Ouguerram, V Serre, D Bonnefont‐Rousselot, ... Human mutation 34 (1), 83-87, 2013 | 137 | 2013 |
Molecular spectrum of autosomal dominant hypercholesterolemia in France M Marduel, A Carrié, A Sassolas, M Devillers, V Carreau, M Di Filippo, ... Human mutation 31 (11), E1811-E1824, 2010 | 136 | 2010 |
LDLR Database: new additions to the database and the software, and results of the first molecular analysis M Varret, JP Rabés, R Thiart, MJ Kotze, H Baron, A Cenarro, O Descamps, ... Nucleic acids research 26 (1), 248-252, 1998 | 120 | 1998 |
Living the PCSK9 Adventure: from the Identification of a New Gene in Familial Hypercholesterolemia Towards a Potential New Class of Anticholesterol Drugs M Abifadel, S Elbitar, P El Khoury, Y Ghaleb, M Chémaly, ML Moussalli, ... Current atherosclerosis reports 16, 1-23, 2014 | 117 | 2014 |
The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene M Abifadel, JP Rabès, S Jambart, G Halaby, MH Gannagé‐Yared, ... Human mutation 30 (7), E682-E691, 2009 | 108 | 2009 |
Methods for detecting the presence of or predisposition to autosomal dominant hypercholesterolemia M Abi Fadel, C Boileau, JP Rabes, NG Seidah, M Varret US Patent 7,300,754, 2007 | 105 | 2007 |
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis CP Diggle, DA Parry, CV Logan, P Laissue, C Rivera, CM Restrepo, ... Human mutation 33 (8), 1175-1181, 2012 | 103 | 2012 |