1. Specification of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia: On behalf of the clingen FH variant curation expert panel. (December 2020) Authors: Iacocca, M.A.; Chora, J.R.; Freiberger, T.; Carrie, A.; Sijbrands, E.J.; Wand, H.; Williams, M.; Zimmermann, H.; Leon, A.; Kurtz, C.L.; Tichy, L.; Alves, A.C.; Wang, J.; Cuchel, M.; Humphries, S.E.; Defesche, J.C.; Mata, P.; Santos, R.D.; Kullo, I.J.; Brunham, L.R. Journal: Atherosclerosis Issue: Volume 315(2020) Page Start: e5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗