1. Adaptation of ACMG/AMP guidelines for variant interpretation in familial hypercholesterolemia - A clingen fh expert panel pilot study. (August 2018) Authors: Chora, J.R.; Iacocca, M.A.; Carrie, A.; Tichy, L.; Leigh, S.E.; DiStefano, M.T.; Defesche, J.; Kurtz, C.L.; Sijbrands, E.J.; Freiberger, T.; Hegele, R.A.; Knowles, J.W.; Bourbon, M. Journal: Atherosclerosis Issue: Volume 275(2018) Page Start: e98 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Specification Of Acmg/Amp Guidelines For Variant Interpretation In Familial Hypercholesterolemia. (August 2019) Authors: Chora, J.R.; Iacocca, M.A.; Carrié, A.; Leigh, S.E.; Tichý, L.; Kurtz, C.L.; Freiberger, T.; Sijbrands, E.J.; Hegele, R.A.; Knowles, J.W.; Bourbon, M. Journal: Atherosclerosis Issue: Volume 287(2019) Page Start: e68 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗