S. Odent

Perinatal‐lethal Gaucher disease

Cyril Mignot, A. Gélot, B. Bessières et al. · American Journal of Medical Genetics Part A · 2003 · 127 citations

Medicine, Genetics, Pediatrics +17

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 · 110 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to <i>ASPM</i> mutations

Sandrine Passemard, Luigi Titomanlio, Monique Elmaleh et al. · Neurology · 2009 · 104 citations

Life Sciences, Genetics, Neurology +16

Clinical reappraisal of <scp>SHORT</scp> syndrome with <i><scp>PIK3R1</scp></i> mutations: toward recommendation for molecular testing and management

David A. Dyment, Jørn V. Sagen, Judith St‐Onge et al. · Clinical Genetics · 2015 · 93 citations

Life Sciences, Genetics, Molecular Genetics +15

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and <i><scp>KMT2D</scp></i> mutations

Natacha Lehman, A.C. Mazery, A. Visier et al. · Clinical Genetics · 2017 · 44 citations

Life Sciences, Genetics, Molecular Genetics +17