1. A deep intronic variant in LDLR causing familial hypercholesterolemia: Time to widen the scope?. (August 2018) Authors: Reeskamp, L.F.; Hartgers, M.L.; Peter, J.; Dallinga-Thie, G.M.; Grefhorst, A.; Zuurbier, L.C.A.; Defesche, J.C.; Hovingh, G.K. Journal: Atherosclerosis Issue: Volume 275(2018) Page Start: e4 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An exploratory analysis of causes for extreme LDL-C levels in patients not carrying variants in genes causing familial hypercholesterolemia. (December 2020) Authors: Tromp, T.; Reeskamp, L.F.; Hartgers, M.; Grefhorst, A.; Zuurbier, L.; Defesche, J.C.; Hovingh, K. Journal: Atherosclerosis Issue: Volume 315(2020) Page Start: e214 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Genetic testing for familial hypercholesterolemia using low-cost high-throughput microarray-based genotyping. (August 2022) Authors: Ibrahim, S.; Van Rooij, J.; Defesche, J.C.; Sedaghatikhayat, B.; Hovingh, G.K.; Uitterlinden, A.; Stroes, E.S.; Reeskamp, L.F. Journal: Atherosclerosis Issue: Volume 355(2022) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Rationale and design of two trials assessing efficacy, safety and tolerability of Inclisiran in adolescents with homozygous and heterozygous familial hypercholesterolaemia. (August 2022) Authors: Reijman, M.D.; Schweizer, A.; Peterson, A.L.H.; Bruckert, E.; Stratz, C.; Defesche, J.C.; Hegele, R.A.; Wiegman, A. Journal: Atherosclerosis Issue: Volume 355(2022) Page Start: 150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗