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Dulika S. Sumathipala

Oslo University Hospital

3

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Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.

2020 BMC Medical Genetics
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Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.

2020 Human Mutation
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A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1

2020 Clinical Dysmorphology
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