Virginie Roth

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions

Mylène Béri‐Dexheimer, Véronique Latger‐Cannard, Christophe Philippe et al. · European Journal of Human Genetics · 2008 · 94 citations

Life Sciences, Genetics, Molecular Genetics +16

<i>WWOX</i>-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation

Cyril Mignot, Laëtitia Lambert, Laurent Pasquier et al. · Journal of Medical Genetics · 2014 · 81 citations

Life Sciences, Genetics, Neurology +17

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

Céline Bonnet, David Pellerin, Virginie Roth et al. · Scientific Reports · 2023 · 72 citations · Full text

Life Sciences, Molecular Genetics, Neurology +15

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

Jean‐Loup Méreaux, Claire-Sophie Davoine, David Pellerin et al. · EBioMedicine · 2023 · 57 citations · Full text

Life Sciences, Genetics, Neurology +6

Natural History and Phenotypic Spectrum of <scp>GAA‐<i>FGF14</i></scp> Sporadic Late‐Onset Cerebellar Ataxia (<scp>SCA27B</scp>)

Thomas Wirth, Guillemette Clément, Clarisse Delvallée et al. · Movement Disorders · 2023 · 55 citations · Full text

Medicine, Neurology, Neuroscience +16