Publications

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy.

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Detection, Characterization, and Inhibition of FGFR-TACC Fusions in IDH Wild-type Glioma

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Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

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Familial focal epilepsy with focal cortical dysplasia due toDEPDC5mutations

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GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.

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