Publications by authors named "Joep Defesche"

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Efficacy and Safety of Inclisiran in Adolescents With Genetically Confirmed Homozygous Familial Hypercholesterolemia: Results From the Double-Blind, Placebo-Controlled Part of the ORION-13 Randomized Trial.
Albert Wiegman, Amy L Peterson, Robert A Hegele, Eric Bruckert, Anja Schweizer, Joep Defesche

Circulation· June 2025

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LDLR variant classification for improved cardiovascular risk prediction in familial hypercholesterolemia.
Shirin Ibrahim, Merel L Hartgers, Laurens F Reeskamp, Linda Zuurbier, Joep Defesche

Atherosclerosis· October 2024

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Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Shirin Ibrahim, Jeroen van Rooij, Annemieke J M H Verkerk, Jard de Vries, Linda Zuurbier, Joep Defesche

Circ Genom Precis Med· October 2023

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Counseling couples at risk of having a child with homozygous familial hypercholesterolemia - Clinical experience and recommendations.
Tycho R Tromp, M Doortje Reijman, Albert Wiegman, G Kees Hovingh, Joep C Defesche

J Clin Lipidol· March 2023

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Use of Lipoprotein(a) to improve diagnosis and management in clinical familial hypercholesterolemia.
Tycho R Tromp, Shirin Ibrahim, Nick S Nurmohamed, Jorge Peter, Linda Zuurbier, Joep C Defesche

Atherosclerosis· January 2023

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Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE gene.
Britt E Heidemann, Charlotte Koopal, Alexis Baass, Joep C Defesche, Linda Zuurbier

Clin Genet· October 2022

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Rationale and design of two trials assessing the efficacy, safety, and tolerability of inclisiran in adolescents with homozygous and heterozygous familial hypercholesterolaemia.
M Doortje Reijman, Anja Schweizer, Amy L H Peterson, Eric Bruckert, Christian Stratz, Joep C Defesche

Eur J Prev Cardiol· July 2022

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Assessment of practical applicability and clinical relevance of a commonly used LDL-C polygenic score in patients with severe hypercholesterolemia.
Tycho R Tromp, Arjen J Cupido, Laurens F Reeskamp, Erik S G Stroes, G Kees Hovingh, Joep C Defesche

Atherosclerosis· January 2022

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Beyond the Usual Suspects: Expanding on Mutations and Detection for Familial Hypercholesterolemia.
Shirin Ibrahim, Joep C Defesche, John J P Kastelein

Expert Rev Mol Diagn· September 2021

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Next-generation sequencing to confirm clinical familial hypercholesterolemia.
Laurens F Reeskamp, Tycho R Tromp, Joep C Defesche, Aldo Grefhorst, Erik S G Stroes

Eur J Prev Cardiol· July 2021

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Successful Genetic Screening and Creating Awareness of Familial Hypercholesterolemia and Other Heritable Dyslipidemias in the Netherlands.
Linda C Zuurbier, Joep C Defesche, Albert Wiegman

Genes (Basel)· July 2021

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ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia.
Laurens F Reeskamp, Andrea Volta, Linda Zuurbier, Joep C Defesche, G Kees Hovingh

J Clin Lipidol· June 2021

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Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia.
Laurens F Reeskamp, Manon Balvers, Jorge Peter, Laura van de Kerkhof, Lisette N Klaaijsen, Joep C Defesche

Atherosclerosis· March 2021

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Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia From Cape Town.
Roeland Huijgen, Dirk J Blom, Merel L Hartgers, Kévin Chemello, Asier Benito-Vicente, Joep C Defesche

Arterioscler Thromb Vasc Biol· February 2021

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Differential DNA methylation in familial hypercholesterolemia.
Laurens F Reeskamp, Andrea Venema, Joao P Belo Pereira, Evgeni Levin, Max Nieuwdorp, Joep C Defesche

EBioMedicine· November 2020

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Next-generation sequencing to confirm clinical familial hypercholesterolemia.
Laurens F Reeskamp, Tycho R Tromp, Joep C Defesche, Aldo Grefhorst, Erik Sg Stroes

Eur J Prev Cardiol· July 2020

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The clinical and molecular diversity of homozygous familial hypercholesterolemia in children: Results from the GeneTics of clinical homozygous hypercholesterolemia (GoTCHA) study.
Ilse K Luirink, Marjet J A M Braamskamp, Albert Wiegman, Merel L Hartgers, Barbara Sjouke, Joep C Defesche

J Clin Lipidol· April 2020

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Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action.

JAMA Cardiol· February 2020

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Corrigendum to "Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia" J Clin Lipidol 11 (2017) 1338-1346.
Joep C Defesche, Claudia Stefanutti, Gisle Langslet, Paul N Hopkins, Werner Seiz

J Clin Lipidol· January 2020

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Alirocumab efficacy in patients with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia.
Merel L Hartgers, Joep C Defesche, Gisle Langslet, Paul N Hopkins, John J P Kastelein

J Clin Lipidol· September 2019

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Abetalipoproteinemia From Previously Unreported Gene Mutations.
Xavier-Philippe Aers, Bart P Leroy, Joep C Defesche, Samyah Shadid

Ann Intern Med· February 2019

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A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia.
Laurens F Reeskamp, Merel L Hartgers, Jorge Peter, Geesje M Dallinga-Thie, Linda Zuurbier, Joep C Defesche

Circ Genom Precis Med· December 2018

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ClinVar database of global familial hypercholesterolemia-associated DNA variants.
Michael A Iacocca, Joana R Chora, Alain Carrié, Tomáš Freiberger, Sarah E Leigh, Joep C Defesche

Hum Mutat· November 2018

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Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.
Amy C Sturm, Joshua W Knowles, Samuel S Gidding, Zahid S Ahmad, Catherine D Ahmed, Joep C Defesche

J Am Coll Cardiol· August 2018

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Familial hypercholesterolaemia.
Joep C Defesche, Samuel S Gidding, Mariko Harada-Shiba, Robert A Hegele, Raul D Santos

Nat Rev Dis Primers· December 2017

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