Joep C. Defesche

16.9k citations

128 papers · 5.9k indexed · 3 hit papers · h-index 38

Surgery top 0.5%
Endocrinology, Diabetes and Metabolism top 0.5%
Cancer Research top 1%
Cardiology and Cardiovascular Medicine top 1%
Economics and Econometrics top 1%

Co-authors: John J.P. Kastelein Eric J.G. Sijbrands Sigrid W. Fouchier G. Kees Hovingh M.A.W. Umans-Eckenhausen Barbara A. Hutten Peter Lansberg Samuel S. Gidding
Topics: Lipoproteins and Cardiovascular Health (107 papers)Cancer, Lipids, and Metabolism (35 papers)Diabetes, Cardiovascular Risks, and Lipoproteins (34 papers)
Cited by: Endocrinology, Diabetes and Metabolism Cancer Research Surgery
Journals: The Lancet JAMA Circulation
Partner nations: Netherlands United States Canada

In The Last Decade

Joep C. Defesche

127 papers receiving 5.7k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Efficacy of statins in familial hypercholesterolaemia: a long term cohort study

2008 524 citations Mojgan Yazdanpanah, Joep C. Defesche et al. profile →
The Agenda for Familial Hypercholesterolemia

2015 450 citations Samuel S. Gidding, Mary Ann Champagne et al. Circulation profile →
Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype–phenotype relationship, and clinical outcome

2014 308 citations Barbara Sjouke, Joep C. Defesche et al. European Heart Journal profile →

Peers

Countries citing papers authored by Joep C. Defesche

Since Specialization

Citations

This map shows the geographic impact of Joep C. Defesche's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Joep C. Defesche with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Joep C. Defesche more than expected).

Fields of papers citing papers by Joep C. Defesche

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Joep C. Defesche. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Joep C. Defesche. The network helps show where Joep C. Defesche may publish in the future.

Co-authorship network of co-authors of Joep C. Defesche

This figure shows the co-authorship network connecting the top 25 collaborators of Joep C. Defesche. A scholar is included among the top collaborators of Joep C. Defesche based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Joep C. Defesche. Joep C. Defesche is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	LDLR variant classification for improved cardiovascular risk prediction in familial hypercholesterolemia 2024 ·Atherosclerosis ·(unknown),Merel L. Hartgers,Laurens F. Reeskamp,Linda Zuurbier,Joep C. Defesche,John J.P. Kastelein,Erik S.G. Stroes,G. Kees Hovingh,Roeland Huijgen	2
2	Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia 2023 ·Circulation Genomic and Precision Medicine ·(unknown),Jeroen van Rooij,Annemieke J.M.H. Verkerk,(unknown),Linda Zuurbier,Joep C. Defesche,Jorge Peter,(unknown),Bahareh Sedaghati-khayat,G. Kees Hovingh,André G. Uitterlinden,Erik S.G. Stroes,Laurens F. Reeskamp	3
3	Counseling couples at risk of having a child with homozygous familial hypercholesterolemia – Clinical experience and recommendations 2022 ·Journal of clinical lipidology ·Tycho R. Tromp,M. Doortje Reijman,Albert Wiegman,G. Kees Hovingh,Joep C. Defesche,Merel C. van Maarle,Inge B. Mathijssen	2
4	Use of Lipoprotein(a) to improve diagnosis and management in clinical familial hypercholesterolemia 2022 ·Atherosclerosis ·Tycho R. Tromp,(unknown),Nick S. Nurmohamed,Jorge Peter,Linda Zuurbier,Joep C. Defesche,Laurens F. Reeskamp,G. Kees Hovingh,Erik S.G. Stroes	8
5	Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia 2021 ·Atherosclerosis ·Laurens F. Reeskamp,(unknown),Jorge Peter,(unknown),(unknown),M. Mahdi Motazacker,Aldo Grefhorst,N.A.W. van Riel,G. Kees Hovingh,Joep C. Defesche,Linda Zuurbier	10
6	Differential DNA methylation in familial hypercholesterolemia 2020 ·EBioMedicine ·Laurens F. Reeskamp,Andrea Venema,João Pereira,Evgeni Levin,Max Nieuwdorp,Albert K. Groen,Joep C. Defesche,Aldo Grefhorst,Peter Henneman,G. Kees Hovingh	16
7	ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia 2020 ·Journal of clinical lipidology ·Laurens F. Reeskamp,(unknown),Linda Zuurbier,Joep C. Defesche,G. Kees Hovingh,Aldo Grefhorst	25
8	EFFICACY OF ALIROCUMAB IN 1,191 PATIENTS WITH A WIDE SPECTRUM OF MUTATIONS IN GENES CAUSATIVE FOR FAMILIAL HYPERCHOLESTEROLEMIA 2016 ·Journal of the American College of Cardiology ·John J.P. Kastelein,Gisle Langslet,Paul N. Hopkins,Joep C. Defesche,(unknown),Marie T. Baccara‐Dinet,Sara Hamon,Poulabi Banerjee,Claudia Stefanutti	1
9	Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease 2016 ·Journal of clinical lipidology ·Barbara Sjouke,Joep C. Defesche,Merel L. Hartgers,Albert Wiegman,Jeanine E. Roeters van Lennep,John J.P. Kastelein,G. Kees Hovingh	19
10	The Agenda for Familial Hypercholesterolemiabreakdown → 2015 ·Circulation ·Samuel S. Gidding,Mary Ann Champagne,Sarah D. de Ferranti,Joep C. Defesche,Matthew K. Ito,Joshua W. Knowles,Brian W. McCrindle,Frederick J. Raal,Daniel J. Rader,Raúl D. Santos,Maria F. Lopes‐Virella,Gerald F. Watts,Anthony S. Wierzbicki	450
11	Lysosomal acid lipase A and the hypercholesterolaemic phenotype 2013 ·Current Opinion in Lipidology ·Sigrid W. Fouchier,Joep C. Defesche	52
12	A DNA Microarray for the Detection of Point Mutations and Copy Number Variation Causing Familial Hypercholesterolemia in Europe 2013 ·Journal of Molecular Diagnostics ·Marianne Stef,Lourdes Palacios,Estíbaliz Olano-Martin,(unknown),(unknown),(unknown),(unknown),(unknown),Diego Tejedor,Joep C. Defesche	18
13	Usefulness of Genetic Polymorphisms and Conventional Risk Factors to Predict Coronary Heart Disease in Patients With Familial Hypercholesterolemia 2008 ·The American Journal of Cardiology ·Jeroen B. van der Net,A. Cecile J.W. Janssens,Joep C. Defesche,John J.P. Kastelein,Eric J.G. Sijbrands,Ewout W. Steyerberg	20
14	Gene-load score of the renin–angiotensin–aldosterone system is associated with coronary heart disease in familial hypercholesterolaemia 2008 ·European Heart Journal ·Jeroen B. van der Net,(unknown),Mojgan Yazdanpanah,Geesje M. Dallinga‐Thie,John J.P. Kastelein,Joep C. Defesche,Richard P. Koopmans,Ewout W. Steyerberg,Eric J.G. Sijbrands	14
15	Identification of a New Mutation, S305C, in Exon 7 of the Low-Density Lipoprotein Receptor Gene in a Brazilian Family with Homozygous Familial Hypercholesterolemia 2003 ·Genetic Testing ·(unknown),(unknown),Joep C. Defesche,(unknown)	3
16	Phenotypic variability in familial hypercholesterolaemia: an update 2002 ·Current Opinion in Lipidology ·Angelique C.M. Jansen,Sanne van Wissen,Joep C. Defesche,John J.P. Kastelein	79
17	Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands 2001 ·The Lancet ·(unknown),Joep C. Defesche,Eric J.G. Sijbrands,(unknown),J. Kastelein	346
18	Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands 2000 ·Clinical Genetics ·Maria Lombardi,(unknown),Joep C. Defesche,Sylvia W.A. Kamerling,Mieke D. Trip,Marcel M. A. M. Mannens,Louis M. Havekes,John J.P. Kastelein	47
19	Sib-pair analysis detects elevated Lp(a) levels and large variation of Lp(a) concentration in subjects with familial defective ApoB. 1997 ·Journal of Clinical Investigation ·Ytje Y. van der Hoek,Arno Lingenhel,H.G. Kraft,Joep C. Defesche,J Kastelein,Gerd Utermann	13
20	Identification of a double mutation in the low‐density lipoprotein receptor gene causing familial hypercholesterolemia 1996 ·Clinical Genetics ·Pietro Lombardi,Sylvia W.A. Kamerling,Joep C. Defesche,John J.P. Kastelein,Louis M. Havekes	6

About Joep C. Defesche

Joep C. Defesche is a scholar working on Endocrinology, Diabetes and Metabolism, Surgery and Cancer Research, having authored 128 papers that have together received 5.9k indexed citations. Recurring topics across this work include Lipoproteins and Cardiovascular Health (107 papers), Cancer, Lipids, and Metabolism (35 papers) and Diabetes, Cardiovascular Risks, and Lipoproteins (34 papers). The work is most often cited by research in Endocrinology, Diabetes and Metabolism (2.0k citations), Cancer Research (1.6k citations) and Surgery (4.7k citations). Joep C. Defesche has collaborated with scholars based in Netherlands, United States and Canada. Frequent co-authors include John J.P. Kastelein, Eric J.G. Sijbrands, Sigrid W. Fouchier, G. Kees Hovingh, M.A.W. Umans-Eckenhausen, Barbara A. Hutten, Peter Lansberg, Samuel S. Gidding, Raúl D. Santos and Anthony S. Wierzbicki. Their work appears in journals such as The Lancet, JAMA and Circulation.

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