Grant S. Stewart

The paper identifies a female-specific neurodevelopmental disorder caused by biallelic CIZ1 loss-of-function variants, which disrupt X-chromosome inactivation maintenance.

The paper identifies MAEA as a critical regulator of DNA repair and replication, with loss of function causing developmental delay and neurodevelopmental deficits.

The paper identifies DDIAS as a mitosis-specific DNA damage response protein that binds single-stranded DNA and is part of the TOPBP1-CIP2A complex, highlighting its role in protecting chromosome integrity during mitosis.

This study shows that USP37 prevents premature TRAIP-mediated disassembly of stalled replisomes, maintaining genome stability under replication stress.

The paper identifies actin nucleators as essential for protecting replication forks by modulating RPA activity and preventing ssDNA degradation during replicative stress.

This study identifies bi-allelic MCM10 mutations causing telomere shortening, immune dysfunction, and cardiomyopathy by impairing DNA replication and telomerase activity.

The paper identifies two distinct replisomes, one associated with DONSON in early S phase and euchromatin, and another with FANCM in late S phase and heterochromatin.