M Le Merrer

Mutations of the TWIST gene in the Saethre-Chotzene syndrome

Vincent El Ghouzzi, M Le Merrer, Fabienne Perrin‐Schmitt et al. · Nature Genetics · 1997 · 642 citations

Mendelian Disorder, Genetic Disorder, Genetics +4

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Carine Le Goff, Clémentine Mahaut, Lauren W. Wang et al. · The American Journal of Human Genetics · 2011 · 228 citations · Full text

Fibrosis, Developmental Biology, Signal Transduction +8

Cantú Syndrome Is Caused by Mutations in ABCC9

Bregje W.M. van Bon, Christian Gilissen, Dorothy K. Grange et al. · The American Journal of Human Genetics · 2012 · 166 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

Molecular analysis of pericentrin gene (<i>PCNT</i>) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

Marjorlaine Willems, D. Genevieve, Guntram Borck et al. · Journal of Medical Genetics · 2009 · 110 citations · Full text

Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation

Elisabeth Lajeunie, Vincent El Ghouzzi, M Le Merrer et al. · Journal of Medical Genetics · 1999 · 79 citations · Full text