Véronique Darmency

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari, Fabienne Picard, Nienke E. Verbeek et al. · Genetics in Medicine · 2018 · 239 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Virginie Carmignac, Cyril Mignot, Emmanuelle Blanchard et al. · Genetics in Medicine · 2021 · 30 citations · Full text

Medicine, Dermatology, Molecular Genetics +16

Further delineation of the clinical spectrum of de novo <i>TRIM8</i> truncating mutations

Mirna Assoum, Matthew A. Lines, Orly Elpeleg et al. · American Journal of Medical Genetics Part A · 2018 · 29 citations

Medicine, Genetics, Molecular Genetics +17

Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation

Nawale Hadouiri, Véronique Darmency, Laurent Guibaud et al. · European Journal of Medical Genetics · 2020 · 13 citations · Full text

Medicine, Genetics, Pharmacotherapy +11

Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome

Fanny Mochel, Domitille Gras, Marie‐Pierre Luton et al. · Neurology · 2023 · 12 citations · Full text

Medicine, Molecular Medicine, Neurology +13