A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population.
Plos Genetics
Tcheandjieu, Catherine C; Aguirre, Matthew M; Gustafsson, Stefan S; Saha, Priyanka P; Potiny, Praneetha P; Haendel, Melissa M; Ingelsson, Erik E; Rivas, Manuel A MA; Priest, James R JR