Annelise Yoo Mah-Som

The paper introduces GeNA, a tool to identify genetic variants influencing cell state abundance in single-cell data, finding five loci associated with immune cell state shifts.

The paper uses CRISPR editing and multimodal single-cell sequencing to identify the functional effects of disease variants in primary human cells.

The paper identifies de novo RBBP5 variants in individuals with neurodevelopmental disorders and shows they cause loss of function through structural and Drosophila model analyses.

The paper identifies novel VCP variants causing a childhood-onset neurodevelopmental disorder through exome sequencing and functional analysis.