Emmanuelle Ollivier

NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal–Hreidarsson syndrome

Maname Benyelles, Marie-Françoise O’Donohue, Laëtitia Kermasson et al. · Human Molecular Genetics · 2020 · 57 citations

Life Sciences, Genetics, Molecular Genetics +17

Increased diagnostic yield in complex dystonia through exome sequencing

Thomas Wirth, Christine Tranchant, Nathalie Drouot et al. · Parkinsonism & Related Disorders · 2020 · 56 citations · Full text

Life Sciences, Neurology, Neuroscience +10

Identification of genomic features using microsyntenies of domains: Domain teams

Sophie Pasek, Anne Bergeron, Jean‐Loup Risler et al. · Genome Research · 2005 · 44 citations · Full text

Life Sciences, Bioinformatics, Genetics +15

Loss‐of‐Function Mutations in <i>NR4A2</i> Cause Dopa‐Responsive Dystonia Parkinsonism

Thomas Wirth, Louise‐Laure Mariani, Gaber Bergant et al. · Movement Disorders · 2020 · 37 citations

Life Sciences, Genetics, Neurology +17

Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes

Gabrielle Rudolf, Julitta de Bellescize, Anne de Saint Martin et al. · European Journal of Paediatric Neurology · 2020 · 22 citations · Full text

Medicine, Genetics, Neurology +17