Paul A van der Zwaag
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Explore the profile of Paul A van der Zwaag including associated specialties, affiliations and a list of published articles.
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52
Citations
1088
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Recent Articles
11.
Lopera-Maya E, Li S, de Brouwer R, Nolte I, van Breen J, Jongbloed J, et al.
J Cardiovasc Transl Res
. 2023 Jan;
16(6):1251-1266.
PMID: 36622581
The c.40_42delAGA variant in the phospholamban gene (PLN) has been associated with dilated and arrhythmogenic cardiomyopathy, with up to 70% of carriers experiencing a major cardiac event by age 70....
12.
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...
13.
Alimohamed M, Westers H, Vos Y, van der Velde K, Sijmons R, van der Zwaag P, et al.
Front Genet
. 2022 Mar;
13:824510.
PMID: 35299955
In the molecular genetic diagnostics of Mendelian disorders, solutions are needed for the major challenge of dealing with the large number of variants of uncertain significance (VUSs) identified using next-generation...
14.
de Brouwer R, Meems L, Verstraelen T, Mahmoud B, Proost V, Wilde A, et al.
Heart Rhythm
. 2021 Nov;
19(3):427-434.
PMID: 34767988
Background: A pathogenic variant in the gene encoding phospholamban (PLN), a protein that regulates calcium homeostasis of cardiomyocytes, causes PLN cardiomyopathy. It is characterized by a high arrhythmic burden and...
15.
Verstraelen T, van Lint F, Bosman L, de Brouwer R, Proost V, Abeln B, et al.
Eur Heart J
. 2021 Jun;
42(29):2842-2850.
PMID: 34113975
Aims: This study aims to improve risk stratification for primary prevention implantable cardioverter defibrillator (ICD) implantation by developing a new mutation-specific prediction model for malignant ventricular arrhythmia (VA) in phospholamban...
16.
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...
17.
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.
18.
Eijgenraam T, Boukens B, Boogerd C, Schouten E, van de Kolk C, Stege N, et al.
Sci Rep
. 2020 Oct;
10(1):16710.
PMID: 33009422
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
19.
Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema P, et al.
Genet Med
. 2020 Sep;
23(1):47-58.
PMID: 32893267
Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative...
20.
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...