Olivier Vanakker
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Explore the profile of Olivier Vanakker including associated specialties, affiliations and a list of published articles.
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40
Citations
867
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Recent Articles
1.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, et al.
Genet Med
. 2024 Dec;
27(4):101347.
PMID: 39707840
Purpose: RORA encodes the RAR-related orphan receptor-α, playing a pivotal role in cerebellar maturation and function. Here, we report the largest series of individuals with RORA-related-neurodevelopmental disorder. Methods: Forty individuals...
2.
De Clercq G, Vantomme L, Dewaele B, Callewaert B, Vanakker O, Janssens S, et al.
Sci Rep
. 2024 Nov;
14(1):29142.
PMID: 39587234
Structural variants (SVs) are important contributors to human disease. Their characterization remains however difficult due to their size and association with repetitive regions. Long-read sequencing (LRS) and optical genome mapping...
3.
Ervilha Pereira P, Schuermans N, Meylemans A, LeBlanc P, Versluys L, Copley K, et al.
Acta Neuropathol
. 2023 Mar;
145(6):793-814.
PMID: 37000196
Neuronal TDP-43-positive inclusions are neuropathological hallmark lesions in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Pathogenic missense variants in TARDBP, the gene encoding TDP-43, can cause ALS and cluster...
4.
Beyens A, Lietaer C, Claes K, De Baere E, Goeteyn M, Lerut B, et al.
Clin Genet
. 2023 Mar;
103(6):709-713.
PMID: 36896710
Epidermal nevus syndrome (ENS) comprises a heterogeneous group of neurocutaneous syndromes associated with the presence of epidermal nevi and variable extracutaneous manifestations. Postzygotic activating HRAS pathogenic variants were previously identified...
5.
Pelttari S, Vaaramaki S, Vanakker O, Verschuere S, Uusitalo H, Huhtala H, et al.
Orphanet J Rare Dis
. 2022 May;
17(1):185.
PMID: 35525997
Background: Pseudoxanthoma elasticum (PXE, OMIM# 264800) is an inborn error of metabolism causing ectopic soft tissue calcification due to low plasma pyrophosphate concentration. We aimed to assess the prevalence of...
6.
Duerinckx S, Desir J, Perazzolo C, Badoer C, Jacquemin V, Soblet J, et al.
Mol Genet Genomic Med
. 2021 Aug;
9(9):e1768.
PMID: 34402213
Background: Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. Methods: We performed...
7.
Runge K, Mathieu R, Bugeon S, Lafi S, Beurrier C, Sahu S, et al.
Mol Psychiatry
. 2021 Jul;
26(12):7852.
PMID: 34282265
No abstract available.
8.
Runge K, Mathieu R, Bugeon S, Lafi S, Beurrier C, Sahu S, et al.
Mol Psychiatry
. 2021 Jun;
26(11):6125-6148.
PMID: 34188164
While the transcription factor NEUROD2 has recently been associated with epilepsy, its precise role during nervous system development remains unclear. Using a multi-scale approach, we set out to understand how...
9.
Bartstra J, Risseeuw S, de Jong P, van Os B, Kalsbeek L, Mol C, et al.
Atherosclerosis
. 2021 Apr;
324:18-26.
PMID: 33812167
Background And Aims: Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has considerable phenotypic...
10.
Ibold B, Tiemann J, Faust I, Ceglarek U, Dittrich J, Gorgels T, et al.
Sci Rep
. 2021 Jan;
11(1):2137.
PMID: 33483533
Genetic studies link adenosine triphosphate-binding cassette transporter C6 (ABCC6) mutations to pseudoxanthoma elasticum (PXE). ABCC6 sequence variations are correlated with altered HDL cholesterol levels and an elevated risk of coronary...