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

Severe Neurological Phenotype, Genetic Disorder, Genetics +6

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

Carlos Cardoso, Amber Boys, Elena Parrini et al. · Neurology · 2008 · 129 citations

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

Mathieu Milh, Nathalie Villeneuve, Mondher Chouchane et al. · Epilepsia · 2011 · 128 citations · Full text

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 · 125 citations

Dna, Nuclear Structure, Satellite Dna +20

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 · 49 citations · Full text