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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 168   312 Cited 326 times in Scopus326 7
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 54   2 Cited 3 times in Scopus3 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 50   9 Cited 9 times in Scopus9 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 50   22 Cited 23 times in Scopus23 0