prof. dr. Olivier Vanakker
- Work address
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C. Heymanslaan 10, ingang 81 - gelijkvloers
9000 Gent - OLIVIER.VANAKKER@UGent.be
- ORCID iD
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0000-0003-4491-0332
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- Journal Article
- open access
Rare Modifier Variants Alter the Severity of Cardiovascular Disease in Pseudoxanthoma Elasticum: Identification of Novel Candidate Modifier Genes and Disease Pathways Through Mixture of Effects Analysis
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- Journal Article
- A1
- open access
Genetic counseling in the context of Bangladesh : current scenario, challenges, and a framework for genetic service implementation
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Clinical and subclinical findings in heterozygous ABCC6 carriers : results from a Belgian cohort and clinical practice guidelines
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Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model
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- Journal Article
- A1
- open access
Genotype-phenotype correlation in pseudoxanthoma elasticum
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Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features
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- Journal Article
- A1
- open access
Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice
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Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc
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- Journal Article
- A1
- open access
Cellular and molecular biomarkers indicate premature aging in pseudoxanthoma elasticum patients
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- Conference Paper
- C3
- open access
Pseudoxanthoma elasticum (PXE) patients and heterozygous carriers have decreased plasma PPi levels which correlate with the (cardio)vascular phenotype.