Sylvie Bourthoumieu

Mutations inEDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia

N. Chassaing, Sylvie Bourthoumieu, Mireille Cossée et al. · Human Mutation · 2006 · 102 citations

No apoptosis is induced in rat cortical neurons exposed to GSM phone fields

Vanessa Joubert, Philippe Lévêque, Marylène Cueille et al. · Bioelectromagnetics · 2006 · 77 citations

“Cri-du-chat” syndrome in a patient born to a mother with a paracentric inversion of chromosome 5q

Sylvie Bourthoumieu, Françoise Esclaire, Faraj Terro et al. · Annales de Génétique · 2003 · 69 citations

Apoptosis is Induced by Radiofrequency Fields through the Caspase-Independent Mitochondrial Pathway in Cortical Neurons

Vanessa Joubert, Sylvie Bourthoumieu, Philippe Lévêque et al. · Radiation Research · 2007 · 65 citations

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Quentin Testard, Xavier Vanhoye, Kévin Yauy et al. · Journal of Medical Genetics · 2022 · 52 citations