1. MVP predicts pathogenicity of missense variants by deep learning Nature Communications. 2021
2. EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. Genome medicine. 2020
3. Whole Genome De Novo Variant Identification with FreeBayes and Neural Network Approaches bioRxiv. 2020
4. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. PLoS genetics. 2018
5. Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension. Circulation. Genomic and precision medicine. 2018
6. Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults. Circulation. Genomic and precision medicine. 2018
7. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature genetics. 2017
8. Contrasting Determinants of Mutation Rates in Germline and Soma. Genetics. 2017
9. Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia. Human genetics. 2017
10. Deep Genetic Connection Between Cancer and Developmental Disorders. Human mutation. 2016
11. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 2015