Ludolf G Boven
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Explore the profile of Ludolf G Boven including associated specialties, affiliations and a list of published articles.
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18
Citations
522
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Recent Articles
1.
Jansen M, Schuldt M, van Driel B, Schmidt A, Christiaans I, van der Crabben S, et al.
Int J Mol Sci
. 2023 Feb;
24(4).
PMID: 36835444
Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by pathogenic variants, and a significant cause of sudden cardiac death. Severity is highly variable, with incomplete penetrance...
2.
Alimohamed M, Boven L, van Dijk K, Vos Y, Hoedemaekers Y, van der Zwaag P, et al.
Gene
. 2022 Oct;
851:146984.
PMID: 36270459
Background: Splice prediction algorithms currently used in routine DNA diagnostics have limited sensitivity and specificity, therefore many potential splice variants are classified as variants of uncertain significance (VUSs). However, functional...
3.
Alimohamed M, Johansson L, Posafalvi A, Boven L, van Dijk K, Walters L, et al.
Int J Cardiol
. 2021 Mar;
332:99-104.
PMID: 33662488
Background: Next-generation sequencing (NGS) is increasingly used for clinical evaluation of cardiomyopathy patients as it allows for simultaneous screening of multiple cardiomyopathy-associated genes. Adding copy number variant (CNV) analysis of...
4.
Akinrinade O, Helio T, Lekanne Deprez R, Jongbloed J, Boven L, van den Berg M, et al.
Sci Rep
. 2020 Oct;
10(1):17264.
PMID: 33037269
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
5.
Dorsch L, Kuster D, Jongbloed J, Boven L, Spaendonck-Zwarts K, Suurmeijer A, et al.
Int J Cardiol
. 2020 Sep;
323:251-258.
PMID: 32882290
Background - Variants within the alpha-tropomyosin gene (TPM1) cause dominantly inherited cardiomyopathies, including dilated (DCM), hypertrophic (HCM) and restrictive (RCM) cardiomyopathy. Here we investigated whether TPM1 variants observed in DCM...
6.
Herkert J, Verhagen J, Yotti R, Haghighi A, Phelan D, James P, et al.
Am Heart J
. 2020 Jun;
225:108-119.
PMID: 32480058
Introduction: Biallelic damaging variants in ALPK3, encoding alpha-protein kinase 3, cause pediatric-onset cardiomyopathy with manifestations that are incompletely defined. Methods And Results: We analyzed clinical manifestations of damaging biallelic ALPK3...
7.
Almomani R, Herkert J, Posafalvi A, Post J, Boven L, van der Zwaag P, et al.
J Med Genet
. 2019 Sep;
57(1):23-30.
PMID: 31494578
Background: Idiopathic dilated cardiomyopathy (DCM) is recognised to be a heritable disorder, yet clinical genetic testing does not produce a diagnosis in >50% of paediatric patients. Identifying a genetic cause...
8.
Akinrinade O, Helio T, Lekanne Deprez R, Jongbloed J, Boven L, van den Berg M, et al.
Sci Rep
. 2019 Mar;
9(1):4093.
PMID: 30858397
Recent advancements in next generation sequencing (NGS) technology have led to the identification of the giant sarcomere gene, titin (TTN), as a major human disease gene. Truncating variants of TTN...
9.
Hoorntje E, Posafalvi A, Syrris P, van der Velde K, Bolling M, Protonotarios A, et al.
PLoS One
. 2018 Aug;
13(8):e0203078.
PMID: 30161220
Aims: Likely pathogenic/pathogenic variants in genes encoding desmosomal proteins play an important role in the pathophysiology of arrhythmogenic right ventricular cardiomyopathy (ARVC). However, for a substantial proportion of ARVC patients,...
10.
Herkert J, Abbott K, Birnie E, Meems-Veldhuis M, Boven L, Benjamins M, et al.
Genet Med
. 2018 Mar;
20(11):1374-1386.
PMID: 29517769
Purpose: We evaluated the diagnostic yield in pediatric dilated cardiomyopathy (DCM) of combining exome sequencing (ES)-based targeted analysis and genome-wide copy-number variation (CNV) analysis. Based on our findings, we retrospectively...