Projects
Exome sequencing to identify novel mental retardation genes. University of Antwerp
Identification of novel genetic and epigenetic mechanisms involved in the etiopathogenesis of orofacial clefts by means of exome sequencing, searching for DNA elements and p63 transcription factor binding sites KU Leuven
Cleft lip/palate (CL/P) is one of the most common birth defects in man (1 in 700 live births) and arises through a combination of genetic susceptibility factors andinfluences of / exposures to environmental risk factors in utero. In the identification of genetic causes of CL/P, only a limited number of cases is expected to be explained by mutations in the coding regions. These are presumed to be present in families with multiple OFC affected ...
Molecular genetic analysis of epileptic encephalopathies using whole exome sequencing. University of Antwerp
Deciphering the molecular landscape of Early Onset Parkinson Disease using an integrated approach of exome and transcriptome sequencing. University of Antwerp
Identification of driver mutations by exome sequencing of prostate cancer. KU Leuven
Identification of the genetic defect in sporadic melorheostosis by means of whole exome sequencing Ghent University
This project aims to identify the genetic defect in sporadic melorheostosis. In addition we aim to gain more insights into the precise role of
LEMD3 in TGFbeta/BMP signaling and regulation of bone density. For this study we will use several approaches including yeast two hybrid
experiments, ChIP-seq, a transgenic mouse model and whole-exome sequencing.
Human exome resequencing PCR assay design Ghent University
Human exome resequencing PCR assay design
For reasons of confidentiality the project summary cannot be disclosed.
For more information please contact the (co)promoter.
RNA interference identification of relevant novel mutations detected by next generation sequencing in T-cell acute lymphoblastic leukemia. KU Leuven
Long Read Sequencing for the detection of cryptic Structural Variation in patients with intellectual disability and congenital anomalies KU Leuven
A correct and early genetic diagnosis is essential for patients with intellectual disability and/or multiple congenital anomalies (ID/MCA). A proper diagnosis avoids a ‘diagnostic odyssey’, is vital for family planning, and enables the initiation of early therapeutic interventions in order to improve the outcome. Technical innovations were always instrumental to delineate (new) genetic syndromes and led to an ever-increasing diagnostic yield. ...