| 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 | 3539 | 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 | 798 | 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 | 795 | 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 | 398 | 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 | 330 | 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 | 254 | 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 | 240 | 2004 |
| Genetic heterogeneity of autosomal dominant hypercholesterolemia M Varret, M Abifadel, JP Rabès, C Boileau Clinical genetics 73 (1), 1-13, 2008 | 227 | 2008 |
| Familial hypercholesterolaemia: a global call to arms AJ Vallejo-Vaz, SRK Seshasai, D Cole, GK Hovingh, JJP Kastelein, ... Atherosclerosis 243 (1), 257-259, 2015 | 202 | 2015 |
| Overview of the current status of familial hypercholesterolaemia care in over 60 countries-The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) AJ Vallejo-Vaz, M De Marco, CAT Stevens, A Akram, T Freiberger, ... Atherosclerosis 277, 234-255, 2018 | 199 | 2018 |
| In vivo evidence that furin from hepatocytes inactivates PCSK9 R Essalmani, D Susan-Resiga, A Chamberland, M Abifadel, ... Journal of Biological Chemistry 286 (6), 4257-4263, 2011 | 191 | 2011 |
| Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) AJ Vallejo-Vaz, CAT Stevens, ARM Lyons, KI Dharmayat, T Freiberger, ... The Lancet 398 (10312), 1713-1725, 2021 | 189 | 2021 |
| 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 | 144 | 2012 |
| 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 | 142 | 2013 |
| 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 | 141 | 2014 |
| 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 | 140 | 2002 |
| 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 | 137 | 2010 |
| Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a … PN Hopkins, J Defesche, SW Fouchier, E Bruckert, G Luc, B Cariou, ... Circulation: Cardiovascular Genetics 8 (6), 823-831, 2015 | 120 | 2015 |
| 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 | 118 | 2014 |
| The proprotein convertases in hypercholesterolemia and cardiovascular diseases: emphasis on proprotein convertase subtilisin/kexin 9 NG Seidah, M Abifadel, S Prost, C Boileau, A Prat Pharmacological reviews 69 (1), 33-52, 2017 | 114 | 2017 |
