Cécile Mignon‐Ravix

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

Pierre Cacciagli, Marie-Reine Haddad, Cécile Mignon‐Ravix et al. · European Journal of Human Genetics · 2010 · 140 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

Carlos Cardoso, Amber Boys, Elena Parrini et al. · Neurology · 2008 · 131 citations

Medicine, Genetics, Molecular Genetics +17

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

Mathieu Milh, Nathalie Villeneuve, Mondher Chouchane et al. · Epilepsia · 2011 · 131 citations · Full text

Medicine, Genetics, Neurology +17

PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase

Judith Luciani, D. Depétris, Yves Usson et al. · Journal of Cell Science · 2006 · 128 citations

Life Sciences, Cell Biology, Molecular Biology +16

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

Nancy Choucair, Cécile Mignon‐Ravix, Pierre Cacciagli et al. · Molecular Cytogenetics · 2015 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17