PRiSM is a functional screen to assess the pathogenicity of candidate variants identified in individuals with a neurodevelopmental disorder.

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Testing Variants

PRiSM consists of an in silico screening followed by three standardized assays. Two in vitro assays, looking at the effect of the variant on protein stability and neuronal morphology, and one in vivo assay, looking at the effect of the variant on neuronal migration.

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NEWS & EVENTS

Funding

At the moment we do not have any funding for screening mutations.

Presentations

Presentations on projects where the PRiSM screen is used at conferences, patient organization days, or other occasions will be announced here.

RECENT PUBLICATIONS

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