| Human Splicing Finder: an online bioinformatics tool to predict splicing signals FO Desmet, D Hamroun, M Lalande, G Collod-Béroud, M Claustres, ... Nucleic acids research 37 (9), e67-e67, 2009 | 2819 | 2009 |
| 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 |
| 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 |
| 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 | 506 | 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 | 407 | 2003 |
| 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 | 321 | 2003 |
| 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 |
| UMD (Universal mutation database): a generic software to build and analyze locus‐specific databases C Béroud, G Collod‐Béroud, C Boileau, T Soussi, C Junien Human mutation 15 (1), 86-94, 2000 | 245 | 2000 |
| Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias C Le Goff, C Mahaut, LW Wang, S Allali, A Abhyankar, S Jensen, ... The American Journal of Human Genetics 89 (1), 7-14, 2011 | 243 | 2011 |
| A second locus for Marfan syndrome maps to chromosome 3p24. 2–p25 G Collod, MC Babron, G Jondeau, M Coulon, J Weissenbach, O Dubourg, ... Nature genetics 8 (3), 264-268, 1994 | 217 | 1994 |
| Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations L Faivre, A Masurel-Paulet, G Collod-Beroud, BL Callewaert, AH Child, ... Pediatrics 123 (1), 391-398, 2009 | 208 | 2009 |
| Cardiovascular manifestations in men and women carrying a FBN1 mutation D Détaint, L Faivre, G Collod-Beroud, AH Child, BL Loeys, C Binquet, ... European heart journal 31 (18), 2223-2229, 2010 | 206 | 2010 |
| The new Ghent criteria for Marfan syndrome: what do they change? L Faivre, G Collod‐Beroud, L Adès, E Arbustini, A Child, BL Callewaert, ... Clinical genetics 81 (5), 433-442, 2012 | 159 | 2012 |
| Long‐term follow‐up of DYT1 dystonia patients treated by deep brain stimulation: an open‐label study L Cif, X Vasques, V Gonzalez, P Ravel, B Biolsi, G Collod‐Beroud, ... Movement Disorders 25 (3), 289-299, 2010 | 158 | 2010 |
| Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands L Faivre, G Collod-Beroud, A Child, B Callewaert, BL Loeys, C Binquet, ... Journal of medical genetics 45 (6), 384-390, 2008 | 157 | 2008 |
| Marfan Database: new mutations and new routines for the software G Collod-Béroud, C Béroud, L Ades, C Black, M Boxer, DJH Brock, ... Nucleic Acids Research 26 (1), 229-233, 1998 | 141 | 1998 |
| UMD (universal mutation database): 2005 update C Béroud, D Hamroun, G Collod‐Béroud, C Boileau, T Soussi, ... Human mutation 26 (3), 184-191, 2005 | 138 | 2005 |
| UMD‐predictor: a high‐throughput sequencing compliant system for pathogenicity prediction of any human cDNA substitution D Salgado, JP Desvignes, G Rai, A Blanchard, M Miltgen, A Pinard, ... Human mutation 37 (5), 439-446, 2016 | 133 | 2016 |
| In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome V Carmignac, J Thevenon, L Adès, B Callewaert, S Julia, ... The American Journal of Human Genetics 91 (5), 950-957, 2012 | 129 | 2012 |
| Marfan syndrome in the third Millennium G Collod-Béroud, C Boileau European Journal of Human Genetics 10 (11), 673-681, 2002 | 125 | 2002 |
