Halford JL, Morrill VN, Choi SH, et al. Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes. Nature communications. 2022;13(1):5106. doi:10.1038/s41467-022-32009-5
Cardiovascular disease
Lim ET, Würtz P, Havulinna AS, et al. Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet. 2014;10(7):e1004494. doi:10.1371/journal.pgen.1004494