Publications by authors named "A Stacy Kamumbu"
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- The exocyst complex is crucial for various cellular processes, including vesicle fusion and cell movement, but its connection to human genetic disorders is not well understood.
- Researchers used mapping and sequencing methods on families with brain disorders to find that mutations in EXOC7 and EXOC8 are linked to cerebral cortex development issues.
- Their findings indicate that disruptions in the exocyst pathway can lead to serious brain disorders, underlining its importance in normal brain development.
We systematically analyzed postzygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and performed resequencing using multiple independent technologies. We identified 7.5% of de novo mutations as PZMs, 83.
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