Karine Siquier-Pernet

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

Lam Son Nguyen, Marylin Lepleux, M. Makhlouf et al. · Molecular Autism · 2016 · 157 citations · Full text

Life Sciences, Neurobiology, Neuroscience +15

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Sónia Barbosa, Stephanie Greville‐Heygate, Maxime Bonnet et al. · The American Journal of Human Genetics · 2020 · 111 citations · Full text

Life Sciences, Genetics, Neuroscience +17

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Jean Chemin, Karine Siquier-Pernet, Michaël Nicouleau et al. · Brain · 2018 · 106 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Devesh C. Pant, Imen Dorboz, Agatha Schlüter et al. · Journal of Clinical Investigation · 2019 · 106 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Dennis Mircsof, Maéva Langouët, Marlène Rio et al. · Nature Neuroscience · 2015 · 94 citations

Life Sciences, Genetics, Molecular Genetics +16