| ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation C Le Goff, F Morice-Picard, N Dagoneau, LW Wang, C Perrot, YJ Crow, ... Nature genetics 40 (9), 1119-1123, 2008 | 252 | 2008 |
| 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 | 240 | 2011 |
| Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome C Le Goff, C Mahaut, A Abhyankar, W Le Goff, V Serre, A Afenjar, ... Nature genetics 44 (1), 85-88, 2012 | 157 | 2012 |
| The ADAMTS (L) family and human genetic disorders C Le Goff, V Cormier-Daire Human molecular genetics 20 (R2), R163-R167, 2011 | 138 | 2011 |
| Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis C Michot, C Le Goff, A Goldenberg, A Abhyankar, C Klein, E Kinning, ... The American Journal of Human Genetics 90 (4), 740-745, 2012 | 137 | 2012 |
| Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and … C Le Goff, RPT Somerville, F Kesteloot, K Powell, DE Birk, AC Colige, ... Oxford University Press for The Company of Biologists Limited 133 (8), 1587-1596, 2006 | 124 | 2006 |
| Adamts9 is widely expressed during mouse embryo development KA Jungers, C Le Goff, RPT Somerville, SS Apte Gene Expression Patterns 5 (5), 609-617, 2005 | 116 | 2005 |
| Positive role of peptidoglycan breaks in lactococcal biofilm formation. Mol. Microbiol. 2002 46(1):235-43. C Mercier, C Durrieu, R Briandet, E Domakova, J Tremblay, K Saulius. Molecular Microbiology 46 (1), 235-243, 2002 | 103 | 2002 |
| Adamts5, the gene encoding a proteoglycan-degrading metalloprotease, is expressed by specific cell lineages during mouse embryonic development and in adult tissues DR McCulloch, C Le Goff, S Bhatt, LJ Dixon, JD Sandy, SS Apte Gene Expression Patterns 9 (5), 314-323, 2009 | 99 | 2009 |
| Identification of CANT1 mutations in Desbuquois dysplasia C Huber, B Oulès, M Bertoli, M Chami, M Fradin, Y Alanay, LI Al-Gazali, ... The American Journal of Human Genetics 85 (5), 706-710, 2009 | 98 | 2009 |
| From tall to short: the role of TGFβ signaling in growth and its disorders C Le Goff, V Cormier‐Daire American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2012 | 88 | 2012 |
| Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes N Dagoneau, S Bellais, P Blanchet, P Sarda, LI Al-Gazali, M Di Rocco, ... The American Journal of Human Genetics 80 (5), 966-970, 2007 | 68 | 2007 |
| Positive role of cell wall anchored proteinase PrtP in adhesion of lactococci O Habimana, C Le Goff, V Juillard, MN Bellon-Fontaine, G Buist, ... BMC microbiology 7, 1-8, 2007 | 65 | 2007 |
| Myoferlin regulates cellular lipid metabolism and promotes metastases in triple-negative breast cancer A Blomme, B Costanza, P De Tullio, M Thiry, G Van Simaeys, S Boutry, ... Oncogene 36 (15), 2116-2130, 2017 | 64 | 2017 |
| Estimation of the state of bacterial cell wall by fluorscent in situ hybridisation E Bidnenko, C Mercier, J Tremblay, P Tailliez, S Kulakauskas Applied Environmental Microbiology 64, 3059-3062, 1998 | 63 | 1998 |
| Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia AM McInerney-Leo, C Le Goff, PJ Leo, TJ Kenna, P Keith, JE Harris, ... Journal of medical genetics 53 (7), 457-464, 2016 | 60 | 2016 |
| ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis BH Koo, C Le Goff, KA Jungers, A Vasanji, J O'Flaherty, CM Weyman, ... Matrix Biology 26 (6), 431-441, 2007 | 60 | 2007 |
| Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia S Allali, C Le Goff, I Pressac–Diebold, G Pfennig, C Mahaut, N Dagoneau, ... Journal of medical genetics 48 (6), 417-421, 2011 | 56 | 2011 |
| Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis M Nizon, C Huber, F De Leonardis, R Merrina, A Forlino, M Fradin, ... Human mutation 33 (8), 1261-1266, 2012 | 54 | 2012 |
| Myhre and LAPS syndromes: clinical and molecular review of 32 patients C Michot, C Le Goff, C Mahaut, A Afenjar, AS Brooks, PM Campeau, ... European journal of human genetics 22 (11), 1272-1277, 2014 | 53 | 2014 |
