Kevin K. Chau

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

This study demonstrates that high-quality whole genome sequencing can be achieved from archived dried blood spots without PCR amplification, suitable for population genomic studies.

Cortical Organoids Model Early Brain Development Disrupted by 16p11.2 Copy Number Variants in Autism

This study uses cortical organoids derived from patients with 16p11.2 CNV to show altered neurodevelopmental processes, including changes in organoid size, neuronal maturation, and migration.

Full-length isoform transcriptome of developing human brain provides new insights into autism

The paper analyzes full-length splicing isoforms in the developing human brain to identify isoform-level changes associated with neurodevelopmental disorders and highlights the importance of studying mutations at the isoform level.

Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling

This study shows that Cul3 haploinsufficiency in mice causes social and cognitive deficits, cortical volume reduction, and cytoskeletal defects, which are rescued by RhoA inhibition.