Publicaties
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Comparative analysis of different culture conditions inducing naive pluripotency in human embryonic stem cells Universiteit Gent
RNA extraction method impacts quality metrics and sequencing results in formalin-fixed, paraffin-embedded tissue samples Universiteit Gent
Exploring the cell-free total RNA transcriptome in diffuse large B-cell lymphoma and primary mediastinal B-cell lymphoma patients as biomarker source in blood plasma liquid biopsies Universiteit Gent
Introduction: Diffuse large B-cell lymphoma (DLBCL) and primary mediastinal B-cell lymphoma (PMBCL) are aggressive histological subtypes of non-Hodgkin’s lymphoma. Improved understanding of the underlying molecular pathogenesis has led to new classification and risk stratification tools, including the development of cell-free biomarkers through liquid biopsies. The goal of this study was to investigate cell-free RNA (cfRNA) biomarkers in DLBCL ...
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis Universiteit Gent
Compendium of clinical variant classification for 2,246 unique ABCA4 variants to clarify variant pathogenicity in Stargardt disease using a modified ACMG/AMP framework Universiteit Gent
Biallelic variants in ABCA4 cause Stargardt disease (STGD1), the most frequent heritable macular disease. Determination of the pathogenicity of variants in ABCA4 proves to be difficult due to (1) the high number of benign and pathogenic variants in the gene; (2) the presence of many rare ABCA4 variants; (3) the presence of complex alleles for which phasing data are absent; (4) the extensive variable expressivity of this disease and (5) reduced ...