Sophie Currier

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher et al. · The American Journal of Human Genetics · 2002 · 684 citations · Full text

Molecular Neuroscience, Developmental Biology, Mendelian Disorder +8

A homozygous nonsense mutation in the <i>Fukutin</i> gene causes a Walker-Warburg syndrome phenotype

Daniel Beltrán Valero de Bernabé, Hans van Bokhoven, Ellen van Beusekom et al. · Journal of Medical Genetics · 2003 · 155 citations · Full text

Ethnically diverse causes of Walker-Warburg syndrome (WWS):<i>FCMD</i>mutations are a more common cause of WWS outside of the Middle East

M. Chiara Manzini, Danielle Gleason, Bernard S. Chang et al. · Human Mutation · 2008 · 71 citations · Full text

Mutations inPOMT1 are found in a minority of patients with Walker-Warburg syndrome

Sophie Currier, Christine K. Lee, Bernard S. Chang et al. · American Journal of Medical Genetics Part A · 2005 · 59 citations

Effect of P-glycoprotein Expression on Sensitivity to Hormones in MCF-7 Human Breast Cancer Cells

Robert Clarke, Sophie Currier, Ofer Kaplan et al. · JNCI Journal of the National Cancer Institute · 1992 · 57 citations