A5067864840- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Congenital Heart Disease Studies
- Coronary Artery Anomalies
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
KU Leuven
2021-2024
VIB-KU Leuven Center for Brain & Disease Research
2024
Google (United States)
2024
Maastricht University
2023
University of California, Los Angeles
2023
California University of Pennsylvania
2023
Centre Hospitalier Universitaire Sainte-Justine
2023
Cardiff University
2023
University of California, San Diego
2023
Rare recurrent copy number variants (CNVs) at chromosomal loci 22q11.2 and 16p11.2 are genetic disorders with lifespan risk for neuropsychiatric disorders. Microdeletions duplications associated neurocognitive deficits, yet few studies compared these groups using the same measures to address confounding measurement differences. We report a prospective international collaboration applying computerized assessment, Penn Computerized Neurocognitive Battery (CNB), administered in multi-site study...
Although it is known that copy number variants (CNVs) on chromosome 22, such as 22q11.2 deletion (22q11.2DS) and duplication (22q11.2Dup) syndromes, are associated with higher risk for neurodevelopmental issues, few studies have examined the language skills across 22q11.2Dup nor compared them 22q11.2DS. The current study aims to characterize abilities in school-aged children (n = 29), age-matched 22q11.2DS 29). Standardized tests were administered, assessing receptive expressive different...
Abstract Duplications on Chromosome 22q11.2 (22q11.2 dup) are associated with a wide spectrum of physical and neurodevelopmental features. In this chart review, physical, developmental, behavioral features 28 patients dup (median age = 17.11 years) reported, phenotypes de novo inherited duplications compared. Common medical anomalies include nutritional problems (57%), failure to thrive (33%), transient hearing impairment (52%), congenital heart defects (33%). Developmental, speech‐language,...
Despite the established knowledge that recurrent copy number variants (CNVs) at 16p11.2 locus BP4-BP5 confer risk for behavioural and language difficulties, limited research has been conducted on association between social-communicative profiles. The current study aims to further delineate prevalence, nature severity of, between, features of school-aged children with deletion syndrome (16p11.2DS) duplication (16p11.2Dup).
Individuals with proximal 16p11.2 copy number variants (CNVs), either deletions (16p11.2DS) or duplications (16p11.2Dup), are predisposed to neurodevelopmental difficulties and disorders, such as language intellectual disability, autism spectrum disorder. The purpose of the current study was characterize profiles school-age children CNVs, in relation normative sample unaffected siblings 16p11.2DS.
Rare recurrent copy number variants (CNVs) at chromosomal loci 22q11.2 and 16p11.2 are among the most common rare genetic disorders associated with significant risk for neuropsychiatric across lifespan. Microdeletions duplications in these neurocognitive deficits, yet there few studies comparing groups using same measures. We address this gap a prospective international collaboration applying computerized assessment. The Penn Computerized Neurocognitive Battery (CNB) was administered...
22q11.2 deletion (22q11.2DS) and duplication (22q11.2Dup) confer risk for neurodevelopmental difficulties, but the characterization of speech-language social skills in 22q11.2Dup is still limited. Therefore, this study aims to delineate social-communicative school-aged children with (n = 19) compared their non-carrier siblings 11) age-matched 22q11.2DS 19). Parents completed two standardized questionnaires: Children’s Communication Checklist (CCC-2), screening speech, language, skills,...