Author
Broad InstituteORCID 0000-0002-1596-983XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Philip M. Boone, Ricardo Harripaul, Rachita Yadav…·Michael E. Talkowski
The paper investigates the functional role of recursive splicing in CADM2, showing that its deletion leads to altered gene expression and behavioral changes in neurodevelopmental disorders.
Mary Pat Reeve, Stephanie J. Loomis, Eija Nissilä…·Heiko Runz
The paper identifies CFHR5 variants that reduce AMD risk by lowering FHR-5 levels and altering complement pathway activity.
Hu Jin, D. Gulhan, Benedikt Geiger…·Peter J. Park
MuSiCal improves mutational signature analysis by outperforming existing methods in discovery and assignment, revealing new signatures and resolving ambiguities in cancer genomes.
Morad Ansari, Kamli N. W. Faour, Akiko Shimamura…·Philip M. Boone
The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.