Véronica Cusin

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

Valérie Belin, Véronica Cusin, Géraldine Viot et al. · Nature Genetics · 1998 · 358 citations

Life Sciences, Genetics, Molecular Genetics +5

A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

Philippe Latour, Christel Thauvin‐Robinet, Chantal Baudelet-Méry et al. · The American Journal of Human Genetics · 2010 · 232 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +16

Novel <i>FH</i> mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

Betty Gardie, Audrey Remenieras, Darouna Kattygnarath et al. · Journal of Medical Genetics · 2011 · 142 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations

Olivier Clermont, Philippe Burlet, Paule Bénit et al. · Human Mutation · 2004 · 80 citations

Life Sciences, Genetics, Molecular Genetics +15

Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

Mélodie Aubart, Delphine Gobert, F. Aubart-Cohen et al. · PLoS ONE · 2014 · 51 citations · Full text

Medicine, Genetics, Molecular Genetics +15