Véronique Darmency‐Stamboul

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

Julien Thévenon, Yannis Duffourd, Alice Masurel‐Paulet et al. · Clinical Genetics · 2016 · 269 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Julien Thévenon, Mathieu Milh, François Feillet et al. · The American Journal of Human Genetics · 2014 · 136 citations · Full text

Life Sciences, Genetics, Neuroscience +13

C5orf42 is the major gene responsible for OFD syndrome type VI

Estelle Lopez, Christel Thauvin‐Robinet, Bruno Reversade et al. · Human Genetics · 2013 · 90 citations

Life Sciences, Genetics, Molecular Genetics +6

Antenatal Factors Associated With Perinatal Arterial Ischemic Stroke

Véronique Darmency‐Stamboul, Corinne Chantegret, Cyril Ferdynus et al. · Stroke · 2012 · 82 citations · Full text

Public Health, Maternal Health, Obstetrics +16

Expanding the clinical phenotype of patients with a <i>ZDHHC9</i> mutation

Alice Masurel‐Paulet, Vera M. Kalscheuer, Nicolas Lebrun et al. · American Journal of Medical Genetics Part A · 2013 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14