Els K Vanhoutte
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Explore the profile of Els K Vanhoutte including associated specialties, affiliations and a list of published articles.
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29
Citations
682
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Recent Articles
1.
Stroeks S, Henkens M, Dominguez F, Merlo M, Hellebrekers D, Gonzalez-Lopez E, et al.
JACC Heart Fail
. 2024 Oct;
13(1):133-145.
PMID: 39425739
Background: Systemic immune-mediated diseases (SIDs) are a well-known cause of dilated cardiomyopathy (DCM), a cardiac phenotype influenced by genetic predispositions and environmental factors. Objectives: This study sought to examine if...
2.
Vorsteveld E, van der Made C, Smeekens S, Schuurs-Hoeijmakers J, Astuti G, Diepstra H, et al.
Clin Immunol
. 2024 Oct;
268:110375.
PMID: 39369972
While next generation sequencing has expanded the scientific understanding of Inborn Errors of Immunity (IEI), the clinical use and re-use of exome sequencing is still emerging. We revisited clinical exome...
3.
Rots D, Bouman A, Yamada A, Levy M, Dingemans A, de Vries B, et al.
Am J Hum Genet
. 2024 Jul;
111(8):1605-1625.
PMID: 39013458
The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is caused by EHMT1...
4.
Stroeks S, Hellebrekers D, Claes G, Krapels I, Henkens M, Sikking M, et al.
Eur J Hum Genet
. 2023 May;
31(7):776-783.
PMID: 37198425
It was previously suggested that increasing the number of genes on diagnostic gene panels could increase the genetic yield in patient with dilated cardiomyopathy (DCM). We explored the diagnostic and...
5.
Stroeks S, Lunde I, Hellebrekers D, Claes G, Wakimoto H, Gorham J, et al.
Circ Genom Precis Med
. 2023 Mar;
16(2):e003788.
PMID: 36971006
Background: Dilated cardiomyopathy (DCM) was considered a monogenetic disease that can be caused by over 60 genes. Evidence suggests that the combination of multiple pathogenic variants leads to greater disease...
6.
Leitao E, Schroder C, Parenti I, Dalle C, Rastetter A, Kuhnel T, et al.
Nat Commun
. 2022 Nov;
13(1):6570.
PMID: 36323681
Disease gene discovery on chromosome (chr) X is challenging owing to its unique modes of inheritance. We undertook a systematic analysis of human chrX genes. We observe a higher proportion...
7.
Ghorbani F, de Boer-Bergsma J, Verschuuren-Bemelmans C, Pennings M, de Boer E, Kremer B, et al.
J Neurol
. 2022 Jul;
269(11):6086-6093.
PMID: 35864213
Recently, an intronic biallelic (AAGGG) repeat expansion in RFC1 was shown to be a cause of CANVAS and adult-onset ataxia in multiple populations. As the prevalence of the RFC1 repeat...
8.
Stroeks S, Hellebrekers D, Claes G, Tayal U, Krapels I, Vanhoutte E, et al.
Genet Med
. 2021 Jul;
23(11):2186-2193.
PMID: 34194005
Purpose: Accurate interpretation of variants detected in dilated cardiomyopathy (DCM) is crucial for patient care but has proven challenging. We applied a set of proposed refined American College of Medical...
9.
Verdonschot J, Hazebroek M, Krapels I, Henkens M, Raafs A, Wang P, et al.
Circ Genom Precis Med
. 2020 Sep;
13(5):476-487.
PMID: 32880476
Background: Genetic analysis is a first-tier test in dilated cardiomyopathy (DCM). Electrical phenotypes are common in genetic DCM, but their exact contribution to the clinical course and outcome is unknown....
10.
Wijnen I, Veenstra-Knol H, Vansenne F, Gerkes E, de Koning T, Vos Y, et al.
Eur J Hum Genet
. 2020 Mar;
28(6):763-769.
PMID: 32157189
Previously, intragenic CAMTA1 copy number variants (CNVs) have been shown to cause non-progressive, congenital ataxia with or without intellectual disability (OMIM#614756). However, ataxia, intellectual disability, and dysmorphic features were all...