Projects
Resequencing remaining allele in atypical 22q11 deletion carriers to identify genetic modifiers of the velo-cardio-facial syndrome (VCFS). KU Leuven
Genomic structure as a contributing factor for the psychopathology of the 22q11 deletion syndrome KU Leuven
The 22q11 deletion syndrome (22q11 DS), also known as the Velo-Cardio-Facial, Shprintzen, or Di George syndrome, is the most common genomic disorder and characterized by a recurrent microdeletion. The majority of patients have a 3.0Mb deletion caused primarily by non-allelic homologous recombination between large low copy repeats (LCRs). Phenotypical features of the syndrome are highly variable and never fully. To explain the variable 22q11 ...
Mapping the role of the low copy repeats in the phenotypic variability of the 22q11 Deletion Syndrome KU Leuven
The 22q11 deletion syndrome (22q11DS) is the most common
genomic disorder, with a prevalence of 1 in 3000 births. The reason
for this high incidence remains an enigma. The presence and
degrees of severity of most phenotypic features are highly variable
across patients and it remains unknown why some patients acquire
neuropsychiatric features and others do not. The deletion is caused
by non-allelic homologous ...
Mapping the functional role of the low copy repeats in the phenotypic variability of the 22q11.2 Deletion Syndrome KU Leuven
The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder in humans with an estimated incidence of 1 in 3000 live births. The patient’s phenotype is highly heterogeneous and includes congenital heart defects, palatal anomalies and neuropsychological disorders such as schizophrenia which affects 30% of the carriers. These features however are never fully penetrant and the reason for their variability ...
Pragmatic language skills in children with 22q11.2 deletion syndrome and Williams syndrome KU Leuven
Pragmatics, as a part of linguistic competence, can be defined as the ability of a person to use language across different social contexts. In the last two decades the study of the development and use of pragmatic language skills in children with intellectual disabilities has known a remarkable growth. Pragmatic abilities of this population are an interesting study area because of their connection to cognition, social skills, functional ...
Segmental duplication structural variation as the cause for the 22q11DS phenotypic variability KU Leuven
The 22q11 deletion syndrome (22q11DS), also known as the DiGeorge syndrome or Velo-Cardio-Facial syndrome, is the most common microdeletion syndrome, with a prevalence of 1 in 4000 births. The 22q11 deletion is caused by non-allelic homologous recombination between segmental duplications, causing a 3MB deletion in 90% of patients. Typical phenotypes include congenital heart defects, learning difficulties, characteristic facial features, and ...
Breakpoint variability as an explanation for phenotypical variation in 22q11DS. KU Leuven
Cochleovestibular fragility: the human and murine 22q11.2DS model KU Leuven
The 22q11 deletion syndrome (22q11DS) is the most common chromosomal microdeletion syndrome, characterized mainly by various degrees of congenital heart disease, cleft palate or velopharyngeal insufficiency and learning difficulties. Hearing loss has usually been attributed to chronic middle ear disease based on dysfunction of the Eustachian tube and the aberrant anatomy and function of the palatal musculature, but recent research also shows ...
Nonlinear data fusion for arbitrary entity-relation graphs with application to genome interpretation for personalized medicine KU Leuven
In this project, we will develop a scalable data fusion algorithm for nonlinear inference over arbitrary Entity-Relation graphs, which are a simple way to describe complex problem domains by specifying how entities (classes of objects) interact. Our data fusion approach is general and could be applied to many problems, but we will focus on the groundbreaking challenge of genome interpretation, whose solution is at the core of personalized ...