A5012408598- Craniofacial Disorders and Treatments
- dental development and anomalies
- Cleft Lip and Palate Research
- Molecular Biology Techniques and Applications
- Morphological variations and asymmetry
- Gene expression and cancer classification
- Forensic and Genetic Research
- Genetic Associations and Epidemiology
- Orthodontics and Dentofacial Orthopedics
- Genetic and phenotypic traits in livestock
- Autism Spectrum Disorder Research
- Genomic variations and chromosomal abnormalities
- Race, Genetics, and Society
- AI in cancer detection
- Tracheal and airway disorders
- Evolutionary Psychology and Human Behavior
- melanin and skin pigmentation
- Nutrition, Genetics, and Disease
- Williams Syndrome Research
- Metabolomics and Mass Spectrometry Studies
- Diverse Approaches in Healthcare and Education Studies
- Skin Protection and Aging
- Industrial Vision Systems and Defect Detection
- Face recognition and analysis
- Pharmacy and Medical Practices
KU Leuven
2017-2024
Universitair Ziekenhuis Leuven
2017-2024
Many factors influence human facial morphology, including genetics, age, nutrition, biomechanical forces, and endocrine factors. Moreover, features clearly differ between males females, these differences are driven primarily by the of sex hormones during growth development. Specific genetic variants known to circulating hormone levels in humans, which we hypothesize, turn, affect features. In this study, investigated effects testosterone-related on morphology. We tested 32 across 22...
The 22q11.2 deletion syndrome (22q11.2DS) is one of the most frequent microdeletion syndromes and presents with a highly variable phenotype. In affected individuals, specific but subtle facial features can be seen. this observational study, we aim to investigate craniofacial dental 20 children confirmed diagnosis 22q11.2DS by analyzing 3-dimensional (3D) surface scans, 2-dimensional (2D) clinical photographs, panoramic cephalometric radiographs, casts. 3D scans were compared healthy control...
As technology advances and collaborations grow, our ability to finely quantify explore morphological variation in 3D structures can enable important discoveries insights into clinical, evolutionary, genetic questions. However, it is critical understand the relative contribution of potential sources error under study. In this study, we isolated level facial images attributable four sources, using 3dMDface Vectra H1 camera systems. When two systems are used separately image human participants,...
The analysis of contemporary genomic data typically operates on one-dimensional phenotypic measurements (e.g. standing height). Here we report a data-driven, family-informed strategy to facial phenotyping that searches for biologically relevant traits and reduces multivariate 3D shape variability into amendable univariate measurements, while preserving its structurally complex nature. We performed biometric identification siblings in sample 424 children, defining 1,048 sib-shared traits....
Nonsyndromic orofacial clefts (OFCs) are a common birth defect and phenotypically heterogenous in the structure affected by cleft - lip (CL) palate (CLP) as well other features, such severity of cleft. Here, we focus on bilateral unilateral one dimension OFC severity, because genetic architecture these subtypes is not understood. We tested for subtype-specific associations 44 CL (BCL) cases, 434 (UCL) 530 CLP cases (BCLP), 1123 (UCLP) unrelated controls (N = 1626), using mixed-model...
Objectives: Orofacial clefting is one of the most prevalent craniofacial malformations. Previous research has demonstrated that unaffected relatives patients with non-syndromic cleft lip with/without palate (NSCL/P) show distinctive facial features, which can be an expression underlying NSCL/P susceptibility genes. These results support hypothesis genes involved in occurrence a also play role normal development. In this study, we investigated influence genetic variants associated on...
Facial morphology is highly variable, both within and among human populations, a sizable portion of this variation attributable to genetics. Previous genome scans have revealed more than 100 genetic loci associated with different aspects normal-range facial variation. Most these been detected in Europeans, few studies focusing on other ancestral groups. Consequently, the degree which traits share common basis across diverse sets humans remains largely unknown. We therefore investigated an...
Unaffected relatives of individuals with non-syndromic cleft lip or without palate (NSCL/P) show distinctive facial features. The presence this endophenotype is potentially an expression underlying genetic susceptibility to NSCL/P in the larger unselected population. To explore hypothesis, we first partitioned face into 63 partially overlapping regions representing global-to-local morphology and then defined endophenotypic traits by contrasting 3D images from 264 unaffected parents versus...
Introduction The human face is a complex trait displaying strong genetic component as illustrated by various studies on facial heritability. Most of these start from sparse descriptions shape using limited set landmarks. Subsequently, features are preselected univariate measurements or principal components and the heritability estimated for each separately. However, none investigated multivariate features, nor co-heritability between different features. Here we report spatially-dense...
Abstract Estimates of individual-level genomic ancestry are routinely used in human genetics, and related fields. The analysis population structure can yield insights terms modern ancient populations, allowing us to address questions regarding admixture, the numbers identities parental source populations. Unrecognized is also an important confounder correct for genome-wide association studies. However, it remains challenging work with heterogeneous datasets from multiple studies collected by...
Abstract Accurate inference of genomic ancestry is critically important in human genetics, epidemiology, and related fields. Geneticists today have access to multiple heterogeneous population-based datasets from studies collected under different protocols. Therefore, joint analyses these require robust consistent ancestry, where a common strategy yield an space generated by reference dataset. However, such sensitive batch artefacts introduced In this work, we propose novel genome-wide...
Abstract The human face is complex and multipartite, characterization of its genetic architecture remains intriguingly challenging. Applying GWAS to multivariate shape phenotypes, we identified 203 genomic regions associated with normal-range facial variation, 117 which are novel. enriched for both genes relevant craniofacial limb morphogenesis enhancer activity in cranial neural crest cells tissues. Genetic variants grouped by their contribution similar aspects variation show high...
Nonsyndromic orofacial clefts (OFCs) are complex traits characterized by multifactorial inheritance and wide phenotypic variability. Numerous studies have shown subtle differences in the faces of unaffected relatives from cleft families compared to controls, implication being that such outward an incomplete expression reflecting underlying genetic predisposition. Twins discordant for OFCs provide a unique opportunity further test this idea, as co‐twin shares on average 50% (for dizygotic...
Recognizing Mendelian causes is crucial in molecular diagnostics and counseling for patients with autism spectrum disorder (ASD). We explored facial dysmorphism asymmetry relation to genetic ASD studied the potential of objective phenotyping discriminating between multifactorial ASD. In a cohort 152 patients, 3D images were used calculate three metrics: computational score, an expert score. High scores each metrics associated The score showed significant correlation average However, some...
Williams-Beuren syndrome (WBS) is caused by a microdeletion on chromosome 7q11-23 and clusters variety of systemic affectations.To investigate whether 3D facial scans can detect WBS objectively addressing their craniofacial, skeletal dental characteristics, compared with those non-affected control group.3D surface 17 individuals 33 normal developing patients were analysed. Additionally, cephalometric panoramic radiographs subjects individuals.The showed significant differences around the...
ABSTRACT Evidence from both model organisms and clinical genetics suggests close coordination between the developing brain face 1–8 , but it remains unknown whether this developmental link extends to genetic variation that drives normal-range diversity of shape. Here, we performed a multivariate genome-wide association study cortical surface morphology in 19,644 European-ancestry individuals identified 472 genomic loci influencing shape at multiple levels. We discovered substantial overlap...
Abstract Nonsyndromic orofacial clefts (OFCs) are the most common craniofacial birth defect in humans and, like many complex traits, OFCs phenotypically and etiologically heterogenous. The phenotypic heterogeneity of extends beyond structures affected by cleft (e.g., lip (CL) palate (CLP) to other features, such as severity cleft. Here, we focus on bilateral unilateral one dimension OFC severity. Unilateral more frequent than for both CL CLP, but genetic architecture these subtypes is not...