1. A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia: Time to Widen the Scope?. (December 2018) Authors: Reeskamp, Laurens F.; Hartgers, Merel L.; Peter, Jorge; Dallinga-Thie, Geesje M.; Zuurbier, Linda; Defesche, Joep C.; Grefhorst, Aldo; Hovingh, G. Kees Journal: Circulation Issue: Volume 11:Number 12(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Assessment of practical applicability and clinical relevance of a commonly used LDL-C polygenic score in patients with severe hypercholesterolemia. (January 2022) Authors: Tromp, Tycho R.; Cupido, Arjen J.; Reeskamp, Laurens F.; Stroes, Erik S.G.; Hovingh, G. Kees; Defesche, Joep C.; Schmidt, Amand F.; Zuurbier, Linda Journal: Atherosclerosis Issue: Volume 340(2022) Page Start: 61 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Beyond the Usual Suspects: Expanding on Mutations and Detection for Familial Hypercholesterolemia. (2nd September 2021) Authors: Ibrahim, Shirin; Defesche, Joep C.; Kastelein, John J.P. Journal: Expert review of molecular diagnostics Issue: Volume 21:Number 9(2021) Page Start: 887 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. ClinVar database of global familial hypercholesterolemia‐associated DNA variants. Issue 11 (11th October 2018) Authors: Iacocca, Michael A.; Chora, Joana R.; Carrié, Alain; Freiberger, Tomáš; Leigh, Sarah E.; Defesche, Joep C.; Kurtz, C. Lisa; DiStefano, Marina T.; Santos, Raul D.; Humphries, Steve E.; Mata, Pedro; Jannes, Cinthia E.; Hooper, Amanda J.; Wilemon, Katherine A.; Benlian, Pascale; O'Connor, Robert; Ga... Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1631 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE gene. Issue 4 (22nd August 2022) Authors: Heidemann, Britt E.; Koopal, Charlotte; Baass, Alexis; Defesche, Joep C.; Zuurbier, Linda; Mulder, Monique T.; Roeters van Lennep, Jeanine E.; Riksen, Niels P.; Boot, Christopher; Marais, A. David; Visseren, Frank L. J. Journal: Clinical genetics Issue: Volume 102:Issue 4(2022) Page Start: 253 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. In Memoriam: Dato Dr Khoo Kah-Lin – Obituary. Issue 1 (March 2015) Authors: Defesche, Joep C.; Livingston, Michael Journal: Atherosclerosis Issue: Volume 239:Issue 1(2015) Page Start: 287 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. In Memoriam: Dato Dr Khoo Kah-Lin – Obituary. Issue 1 (March 2015) Authors: Defesche, Joep C.; Livingston, Michael Journal: Atherosclerosis Issue: Volume 239:Issue 1(2015) Page Start: 287 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia. (March 2021) Authors: Reeskamp, Laurens F.; Balvers, Manon; Peter, Jorge; van de Kerkhof, Laura; Klaaijsen, Lisette N.; Motazacker, Mahdi M.; Grefhorst, Aldo; van Riel, Natal A.W.; Hovingh, G. Kees; Defesche, Joep C.; Zuurbier, Linda Journal: Atherosclerosis Issue: Volume 321(2021) Page Start: 14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia From Cape Town. Issue 2 (February 2021) Authors: Huijgen, Roeland; Blom, Dirk J.; Hartgers, Merel L.; Chemello, Kévin; Benito-Vicente, Asier; Uribe, Kepa B.; Behardien, Zorena; Blackhurst, Dee M.; Brice, Brigitte C.; Defesche, Joep C.; de Jong, Annemiek G.; Jooste, Rosemary J.; Solomon, Gabriele A.E.; Wolmarans, Karen H.; Hovingh, G. Kees; Mart... Journal: Arteriosclerosis, thrombosis, and vascular biology Issue: Volume 41:Issue 2(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia. (August 2016) Authors: Sjouke, Barbara; Defesche, Joep C.; de Randamie, Janine S.E.; Wiegman, Albert; Fouchier, Sigrid W.; Hovingh, G. Kees Journal: Atherosclerosis Issue: Volume 251(2016) Page Start: 263 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗