Christine Wittevrongel
Leuven, VLG 3000, Belgium
Last Updated: 09/26/2026
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Found 9 publications
Unravelling the disease mechanism for TSPYL1 deficiency.
Journal: Human molecular genetics
Published: October 02, 2020
The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer.
Journal: Haematologica
Published: July 16, 2016
Methylome analysis for spina bifida shows SOX18 hypomethylation as a risk factor with evidence for a complex (epi)genetic interplay to affect neural tube development.
Journal: Clinical epigenetics
Published: June 23, 2016
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
Journal: Science translational medicine
Published: October 28, 2015
Platelet studies in autism spectrum disorder patients and first-degree relatives.
Journal: Molecular autism
Published: March 24, 2015
NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.
Journal: Human molecular genetics
Published: September 27, 2012
No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.
Journal: Journal of human genetics
Published: January 27, 2012
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.
Journal: PloS one
Published: November 25, 2011
Showing 1-9 of 9
Last Updated: 09/26/2026