Duncan Baker

Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort

The paper analyzes genome sequencing data from UK Biobank to assess the penetrance of COL1A1/2 pathogenic variants in OI, finding lower penetrance than expected.

Template switching mechanism drives the tandem amplification of chromosome 20q11.21 in human pluripotent stem cells

Efficient RNA-mediated reprogramming of human somatic cells to naive pluripotency facilitated by tankyrase inhibition

This paper demonstrates that tankyrase inhibition enables efficient, transgene-free reprogramming of human somatic cells to naive pluripotency, with clonal expansion and differentiation capabilities.

Epigenetic resetting of human pluripotency

This paper describes a method to reset human pluripotent stem cells to a naive state through transient histone deacetylase inhibition, showing transcriptomic and epigenomic changes similar to the inner cell mass.