- A germline chromothripsis event stably segregating in 11 individuals through three generations.
- Chromosome instability syndromes.
- NAD+ Replenishment Improves Lifespan and Healthspan in Ataxia Telangiectasia Models via Mitophagy and DNA Repair.
- T-cell ALL in ataxia telangiectasia cured with only 7 weeks of anti-leukemic therapy.
