Postdoc, Spring 2017 - Spring 2021
Current Position: Scientist at Insitro Inc.
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 and ALYREF as new candidate risk genes
Rare variant analysis of 4,241 pulmonary arterial hypertension cases from an international consortium implicate FBLN2, PDGFD and rare de novo variants in PAH
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes
Genetics in Medicine
Dissecting Autism Genetic Risk Using Single-cell RNA-seq Data
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
NPJ genomic medicine
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.