Marine Legendre

TCTN3 Mutations Cause Mohr-Majewski Syndrome

Sophie Thomas, Marine Legendre, Sophie Saunier et al. · The American Journal of Human Genetics · 2012 · 137 citations · Full text

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Annie Laquerrière, Jérôme Maluenda, Adrien Camus et al. · Human Molecular Genetics · 2013 · 109 citations · Full text

Pns Myelination, Developmental Biology, Autoimmune Disease +14

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Caroline Alby, Kevin Piquand, Céline Huber et al. · The American Journal of Human Genetics · 2015 · 92 citations · Full text

Molecular Diagnostic Techniques, Mendelian Disorder, Genetic Disorder +9

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

Marine Legendre, Véronique Abadie, Tania Attié‐Bitach et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2017 · 75 citations · Full text

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Annie Laquerrière, Dana Jaber, Emanuela Abiusi et al. · Journal of Medical Genetics · 2021 · 62 citations · Full text