Ronald H Lekanne Deprez
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Explore the profile of Ronald H Lekanne Deprez including associated specialties, affiliations and a list of published articles.
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39
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2526
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Recent Articles
11.
Jordan E, Peterson L, Ai T, Asatryan B, Bronicki L, Brown E, et al.
Circulation
. 2021 May;
144(1):7-19.
PMID: 33947203
Background: Each of the cardiomyopathies, classically categorized as hypertrophic cardiomyopathy, dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy, has a signature genetic theme. Hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy...
12.
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.
13.
Verdonschot J, Vanhoutte E, Claes G, Helderman-van den Enden A, Hoeijmakers J, Hellebrekers D, et al.
Hum Mutat
. 2020 Mar;
41(6):1091-1111.
PMID: 32112656
Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally, FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high-throughput screening in cardiomyopathy cohorts determined a prominent...
14.
Fokkema I, van der Velde K, Slofstra M, Ruivenkamp C, Vogel M, Pfundt R, et al.
Hum Mutat
. 2019 Aug;
40(12):2230-2238.
PMID: 31433103
Each year diagnostic laboratories in the Netherlands profile thousands of individuals for heritable disease using next-generation sequencing (NGS). This requires pathogenicity classification of millions of DNA variants on the standard...
15.
van Lint F, Murray B, Tichnell C, Zwart R, Amat N, Lekanne Deprez R, et al.
Circ Genom Precis Med
. 2019 Aug;
12(8):e002467.
PMID: 31386562
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with pathogenic/likely pathogenic (P/LP) variants in genes encoding the cardiac desmosomal proteins. Origin of these variants, including de novo mutation rate and...
16.
Jansen M, Baas A, Spaendonck-Zwarts K, Ummels A, van den Wijngaard A, Jongbloed J, et al.
Circ Genom Precis Med
. 2019 May;
12(5):e002436.
PMID: 31112426
Background Truncating titin variants (TTNtv) are the most prevalent genetic cause of dilated cardiomyopathy, found in ≤25% of familial cases. Moreover, TTNtv associated with dilated cardiomyopathy are estimated to be...
17.
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...
18.
Verhagen J, Veldman J, van der Zwaag P, von der Thusen J, Brosens E, Christiaans I, et al.
Eur J Hum Genet
. 2018 Jul;
26(11):1603-1610.
PMID: 29988065
The pathogenicity of previously published disease-associated genes and variants is sometimes questionable. Large-scale, population-based sequencing studies have uncovered numerous false assignments of pathogenicity. Misinterpretation of sequence variants may have serious...
19.
Tadros R, Nannenberg E, Lieve K, Skoric-Milosavljevic D, Lahrouchi N, Lekanne Deprez R, et al.
JACC Clin Electrophysiol
. 2018 May;
3(12):1400-1408.
PMID: 29759671
Objectives: This study evaluated the yield of ajmaline testing and assessed the occurrence of confounding responses in a large cohort of families with unexplained cardiac arrest (UCA) or sudden unexplained...
20.
van Waning J, Caliskan K, Hoedemaekers Y, Spaendonck-Zwarts K, Baas A, Boekholdt S, et al.
J Am Coll Cardiol
. 2018 Feb;
71(7):711-722.
PMID: 29447731
Background: The clinical outcomes of noncompaction cardiomyopathy (NCCM) range from asymptomatic to heart failure, arrhythmias, and sudden cardiac death. Genetics play an important role in NCCM. Objectives: This study investigated...