Karine Siquier-Pernet

机构：Inserm, Université Paris Cité, Institut des Maladies Génétiques Imagine

发表论文 46 篇 · 总被引 1544 次 · h-index 22

代表论文

• Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology (2016 · Molecular Autism · 被引 157)
• Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders (2020 · The American Journal of Human Genetics · 被引 112)
• De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene (2018 · Brain · 被引 109)
• Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy (2019 · Journal of Clinical Investigation · 被引 107)
• AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability (2017 · Nature Communications · 被引 79)
• Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia (2016 · The American Journal of Human Genetics · 被引 75)