Katherine E. Miller

This study uses optical genome mapping to detect somatic structural variants in epilepsy brain tissue, revealing variants missed by short-read sequencing and providing insights into their mechanisms.

This paper shows spinal cord injury causes hematopoietic stem cells to enter a repressed state due to glucocorticoid surges, leading to long-term hematopoietic failure, which can be reversed by early glucocorticoid receptor blockade.

This study shows that EGFL7 promotes HSC expansion and survival, and its absence leads to reduced HSPC numbers and increased quiescence, with rEGFL7 treatment reversing these effects.

The paper identifies somatic and germline genetic variations in brain tissue from children with epilepsy-associated developmental lesions, highlighting new candidate genes and structural variations.

The paper develops an ensemble fusion-calling pipeline to improve the detection of clinically relevant gene fusions in pediatric cancer, identifying 67 fusions with a 29.3% diagnostic yield.