- Work address
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Stalen medische genetica C. Heymanslaan 10
9000 Gent - Marieke.DeBruyne@UGent.be
- ORCID iD
-
0000-0001-6636-5537
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cDNA and targeted RNA sequencing to unravel hidden genetic defects in PID patients with only one-disease related variant in genes with recessive inheritance
(2020) -
First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation
(2020) -
First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation
(2020) -
GATA2 deficiency and haematopoietic stem cell transplantation : challenges for the clinical practitioner
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- Journal Article
- A1
- open access
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation
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- Journal Article
- A1
- open access
A CARD9 founder mutation disrupts NF-κB signaling by inhibiting BCL10 and MALT1 recruitment and signalosome formation
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A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive TH17 immunity
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When one rare disease hides another : Kartagener syndrome masking FMF
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A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects
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CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment