The complete nucleotide sequence of the human immunoglobulin heavy chain variable region locus F Matsuda, K Ishii, P Bourvagnet, K Kuma, H Hayashida, T Miyata, ... The Journal of experimental medicine 188 (11), 2151-2162, 1998 | 609 | 1998 |
Circumstances of death and gross and microscopic observations in a series of 200 cases of sudden death associated with arrhythmogenic right ventricular cardiomyopathy and/or … A Tabib, R Loire, L Chalabreysse, D Meyronnet, A Miras, D Malicier, ... Circulation 108 (24), 3000-3005, 2003 | 466 | 2003 |
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome) C Guichard, MC Harricane, JJ Lafitte, P Godard, M Zaegel, V Tack, ... The American Journal of Human Genetics 68 (4), 1030-1035, 2001 | 337 | 2001 |
Gain-of-Function Mutations in TRPM4 Cause Autosomal Dominant Isolated Cardiac Conduction Disease H Liu, L El Zein, M Kruse, R Guinamard, A Beckmann, A Bozio, G Kurtbay, ... Circulation: Cardiovascular Genetics 3 (4), 374-385, 2010 | 236 | 2010 |
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy G Millat, P Bouvagnet, P Chevalier, C Dauphin, PS Jouk, A Da Costa, ... European journal of medical genetics 53 (5), 261-267, 2010 | 190 | 2010 |
Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel H Liu, S Chatel, C Simard, N Syam, L Salle, V Probst, J Morel, G Millat, ... PloS one 8 (1), e54131, 2013 | 174 | 2013 |
Multiple positive and negative 5′ regulatory elements control the cell-type-specific expression of the embryonic skeletal myosin heavy-chain gene PF Bouvagnet, EE Strehler, GE White, MA Strehler-Page, B Nadal-Ginard, ... Molecular and cellular biology, 1987 | 139 | 1987 |
X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3 A Mégarbané, N Salem, E Stephan, R Ashoush, D Lenoir, V Delague, ... European Journal of Human Genetics 8 (9), 704-708, 2000 | 135 | 2000 |
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy G Millat, P Bouvagnet, P Chevalier, L Sebbag, A Dulac, C Dauphin, ... European Journal of Medical Genetics 54 (6), e570-e575, 2011 | 130 | 2011 |
Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13. 1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a … V Delague, C Bareil, S Tuffery, P Bouvagnet, E Chouery, S Koussa, ... The American Journal of Human Genetics 67 (1), 236-243, 2000 | 122 | 2000 |
Fiber types and myosin types in human atrial and ventricular myocardium. An anatomical description. P Bouvagnet, JOC Léger, F Pons, C Dechesne, JJ Leger Circulation research 55 (6), 794-804, 1984 | 118 | 1984 |
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome G Millat, P Chevalier, L Restier‐Miron, A Da Costa, P Bouvagnet, ... Clinical genetics 70 (3), 214-227, 2006 | 114 | 2006 |
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects MG Posch, S Waldmuller, M Müller, T Scheffold, D Fournier, ... PloS one 6 (12), e28872, 2011 | 105 | 2011 |
Identification, genomic organization, chromosomal mapping and mutation analysis of the human INV gene, the ortholog of a murine gene implicated in left-right axis … P Schön, K Tsuchiya, D Lenoir, T Mochizuki, C Guichard, S Takai, ... Human genetics 110, 157-165, 2002 | 105 | 2002 |
TRPM4 in cardiac electrical activity R Guinamard, P Bouvagnet, T Hof, H Liu, C Simard, L Sallé Cardiovascular research 108 (1), 21-30, 2015 | 94 | 2015 |
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial … A Onoufriadis, A Shoemark, M Schmidts, M Patel, G Jimenez, H Liu, ... Human molecular genetics 23 (13), 3362-3374, 2014 | 93 | 2014 |
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates A Guimier, GC Gabriel, F Bajolle, M Tsang, H Liu, A Noll, M Schwartz, ... Nature genetics 47 (11), 1260-1263, 2015 | 91 | 2015 |
Levels of ventricular myosin fragments in human sera after myocardial infarction, determined with monoclonal antibodies to myosin heavy chains JOC Leger, P Bouvagnet, B Pau, R Roncucci, JJ Leger European journal of clinical investigation 15 (6), 422-429, 1985 | 85 | 1985 |
Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain M Hatayama, T Tomizawa, K Sakai-Kato, P Bouvagnet, S Kose, ... Human molecular genetics 17 (22), 3459-3473, 2008 | 78 | 2008 |
Ciliary Beating Recovery in Deficient Human Airway Epithelial Cells after Lentivirus Ex Vivo Gene Therapy B Chhin, D Negre, O Merrot, J Pham, Y Tourneur, D Ressnikoff, M Jaspers, ... PLoS genetics 5 (3), e1000422, 2009 | 74 | 2009 |