Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants (2021).
DOI: https://doi.org/10.1016/j.ajhg.2021.10.007
A computational approach fro detecting physiological homogeneity in the midst of genetic heterogeneity (2021).
PMID: 34015270
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways (2020).
PMID: 31941532