Christel Thauvin‐Robinet

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Claire Redin, Bénédicte Gérard, Julia Lauer et al. · Journal of Medical Genetics · 2014 · 273 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Audrey Putoux, Sophie Thomas, Karlien L. M. Coene et al. · Nature Genetics · 2011 · 243 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

Gaël Nicolas, Cyril Pottier, Camille Charbonnier et al. · Brain · 2013 · 233 citations · Full text

Medicine, Neurology, Neuroscience +12

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

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang et al. · Neuron · 2020 · 222 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12