1. Integrating de novo and inherited variants in over 42,607 autism cases identifies mutations in new moderate risk genes Nature Genetics. 2022
2. Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene AJHG. 2021
3. Rare variant analysis of 4,241 pulmonary arterial hypertension cases from an international consortium implicate FBLN2, PDGFD and rare de novo variants in PAH Genome Medicine. 2021
4. Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes Genetics in Medicine. 2020
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6. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. NPJ genomic medicine. 2019
7. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. PLoS genetics. 2018