Audrey Schalk

AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis

Véronique Geoffroy, Thomas Guignard, Arnaud Kress et al. · Nucleic Acids Research · 2021 · 104 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

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

<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability

Audrey Schalk, Margot A. Cousin, Nikita R. Dsouza et al. · Journal of Medical Genetics · 2021 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study

Thomas Bogdan, Thomas Wirth, Andra Iosif et al. · Journal of Neurology · 2022 · 25 citations

Medicine, Neurology, Neuroscience +13

Recessive <scp><i>NUP54</i></scp> Variants Underlie Early‐Onset Dystonia with Striatal Lesions

Philip Harrer, Audrey Schalk, Masaru Shimura et al. · Annals of Neurology · 2022 · 16 citations · Full text

Life Sciences, Genetics, Neurology +16