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Karine Siquier-Pernet

Necker-Enfants Malades Hospital

15

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428

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

2020 American Journal of Human Genetics
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Citations (19)
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

2019 Brain
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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

2018 Brain
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Citations (36)
A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

2016 European Journal of Human Genetics
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Citations (32)
Refining the phenotype associated with CASC5 mutation

2016 Neurogenetics
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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

2016 American Journal of Human Genetics
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A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency.

2013 European Journal of Medical Genetics
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Mutation in TTI2 Reveals a Role for Triple T Complex in Human Brain Development

2013 Human Mutation
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