Publications
A catalog of hemizygous variation in 127 22q11 deletion patients KU Leuven University of Antwerp
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS KU Leuven
Inversion péricentrique du 3, homozygote et hétérozygote, et translation centrométrique du 12 dans une famille d'orangs-outans; implications évolutives Institute of Tropical Medicine
Hemizygous deletion of CTGF/CCN2 does not suffice to prevent fibrosis of the severely injured kidney Ghent University
2q31.1 microdeletion syndrome Vrije Universiteit Brussel KU Leuven
INTRODUCTION: The clinical phenotype of the chromosome 2q31 deletion syndrome consists of limb anomalies ranging from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. Additional internal organ anomalies-for example, heart defects, ocular anomalies-may be present. Hemizygosity for HOXD13 and EVX2 genes was thought to cause the observed skeletal defects. Recently, based on the phenotype of patients with overlapping ...
Where are the missing gene defects in inherited retinal disorders? Vrije Universiteit Brussel KU Leuven Ghent University
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes. Albeit that many genes are implicated in IRD, for 30-50% of the cases, the gene defect is unknown. These cases may be explained by novel gene defects, by overlooked structural variants, by variants in intronic, promoter or more distant regulatory regions, and represent synonymous ...