1. LONP1 Variants Are Associated With Clinically Diverse Phenotypes Clin. Genet.. 2025
2. Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants AJHG. 2024
3. Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease Circulation Genomic and Precision Medicine. 2023
4. Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene AJHG. 2021
5. Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes Genetics in Medicine. 2020