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 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) ↗
3. 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) ↗
4. Statin therapy is not associated with insulin resistance in children and adolescents with familial hypercholesterolaemia. (August 2022) Authors: Groselj, U.; Šikonja, J.; Mlinarič, M.; Kotnik, P.; Battelino, T.; Knowles, J.W. Journal: Atherosclerosis Issue: Volume 355(2022) Page Start: 91 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗