Martine LeMerrer

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

Eileen M. Shore, Meiqi Xu, George Feldman et al. · Nature Genetics · 2006 · 1.2K citations

Life Sciences, Genetics, Molecular Genetics +11

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Kristien Hoornaert, Inge Vereecke, Chantal Dewinter et al. · European Journal of Human Genetics · 2010 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31

George Feldman, Ming Li, Shelden Martin et al. · The American Journal of Human Genetics · 2000 · 96 citations · Full text

Medicine, Genetics, Molecular Genetics +7

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder

Raffaele Renella, Elke Schaefer, Martine LeMerrer et al. · American Journal of Medical Genetics Part A · 2006 · 68 citations

Medicine, Pathology, Radiology +10

Lung function, diagnosis, and treatment of sleep‐disordered breathing in children with achondroplasia

Sébastien Julliand, Michèle Boulé, Geneviève Baujat et al. · American Journal of Medical Genetics Part A · 2012 · 63 citations

Medicine, Clinical Sciences, Pediatrics +17