Genes and pathways implicated in tetralogy of Fallot revealed by ultra-rare variant burden analysis in 231 genome sequences
Roozbeh Manshaei, Daniele Merico, Miriam S. Reuter, Worrawat Engchuan, Bahareh A. Mojarad, Rajiv R Chaturvedi, Tracy Heung, Giovanna Pellecchia, Mehdi Zarrei, Thomas Nalpathamkalam, Reem Khan, John B. A. Okello, Eriskay Liston, Meredith Curtis, Ryan K. C. Yuen, , Anne S. Bassett
This paper identifies ultra-rare variants in NOTCH1 and FLT4 associated with tetralogy of Fallot using burden analysis of genome sequences from 231 individuals.
Frontiers in Genetics · Sep 15, 2020Peer-reviewedGenomics