Liz Enyenihi

This study finds that Alzheimer's disease patients have more clonal hematopoiesis mutations than controls, especially those with APOE ε3/ε3 genotype, suggesting a risk factor independent of APOE ε4.

The paper identifies somatic driver mutations in microglia of Alzheimer's disease brains, showing increased clonal expansion and inflammatory signatures.

The paper creates a yeast model of SHRF mutations in EXOSC2 and compares it to an EXOSC3 mutation model, showing distinct RNA exosome functional impacts.

The paper reports three patients with biallelic EXOSC5 variants causing developmental delays, short stature, and cerebellar hypoplasia, and shows functional defects in RNA exosome activity.