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Shore, Eileen M., Xu, Meiqi, Feldman, George J., Fenstermacher, David A., Brown, Matthew A., Kaplan, Frederick S., Cho, Tae-Joon, Choi, In Ho, Connor, J. Michael, Delai, Patricia, Zasloff, Michael, Glaser, David L., LeMerrer, Martine, Smith, Roger, Morhart, Rolf, Rogers, John G., Triffitt, James T. and Urtizberea, J. Andoni (2006) A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nature Genetics, 38 5: 525-527. doi:10.1038/ng1783 172   331 Cited 341 times in Scopus341 10
Terhal, Paulien A., van Dommelen, Paula, Le Merrer, Martine, Zankl, Andreas, Simon, Marleen E. H., Smithson, Sarah F., Marcelis, Carlo, Kerr, Bronwyn, Kinning, Esther, Mansour, Sahar, Hennekam, Raoul C. M., van der Hout, Annemarie H., Cormier-Daire, Valerie, Lund, Allan M., Goodwin, Linda, Megarbane, Andre, Lees, Melissa, Betz, Regina C., Tobias, Edward S., Coucke, Paul and Mortier, Geert R. (2012) Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. American Journal of Medical Genetics Part C-Seminars in Medical Genetics, 160C 3: 205-216. doi:10.1002/ajmg.c.31332 57   5 Cited 6 times in Scopus6 0
Zankl, Andreas, Jackson, Gail C., Crettol, Laureane Mittaz, Taylor, Jacky, Elles, Rob, Mortier, Geert R., Spranger, Jurgen, Zabel, Bernhard, Unger, Sheila, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M., Wrigh, Michael J., Bonafe, Luisa, Superti-Furga, Andrea and Briggs, Michael D. (2006) Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. European Journal of Human Genetics, 15 2: 150-154. doi:10.1038/sj.ejhg.5201744 52   10 Cited 10 times in Scopus10 0
Jackson, Gail C., Mittaz-Crettol, Laureane, Taylor, Jacqueline A., Mortier, Geert R., Spranger, Juergen, Zabel, Bernhard, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M., Offiah, Amaka, Wright, Michael J., Savarirayan, Ravi, Nishimura, Gen, Ramsden, Simon C., Elles, Rob, Bonafe, Luisa, Superti-Furga, Andrea, Unger, Sheila, Zankl, Andreas and Briggs, Michael D. (2012) Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Human Mutation, 33 1: 144-157. doi:10.1002/humu.21611 53   26 Cited 27 times in Scopus27 3