Hilde Peeters

Advancing Genotype-Phenotype Analysis through 3D Facial Morphometry: Insights from Cri-du-Chat Syndrome

This paper uses 3D facial morphometry to analyze facial shape changes in Cri-du-Chat syndrome and related genetic conditions, identifying genotype-phenotype correlations and critical genomic regions.

Mapping genes for human face shape: exploration of univariate phenotyping strategies

This study compares univariate phenotyping strategies for 3D facial shape in GWAS, finding that inter-landmark distances and AE-derived dimensions show higher heritability than facial resemblance to gestalts.

Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population

The paper identifies genomic loci associated with achondroplasia-like facial variation in the general population using a syndrome-informed phenotyping approach.

Nanopore sequencing-based episignature detection

This study demonstrates that nanopore sequencing can detect episignatures in developmental disorders, matching microarray results and identifying pathogenic variants.

Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome

The paper investigates the mechanisms behind the high incidence of 22q11.2 deletion syndrome by analyzing recombination events and paralogous structures in LCR22 regions.

Data-driven trait heritability-based extraction ofhuman facial phenotypes

This paper introduces a method to extract genetically relevant facial phenotypes by optimizing trait heritability, showing higher heritability and better GWAS performance compared to principal components.

Insights into the genetic architecture of the human face

This study identifies 203 genomic regions associated with facial variation using GWAS on multivariate shape phenotypes, revealing novel regions and epistatic interactions.

Shared heritability of face and brain shape distinct from cognitive traits

This study identifies shared genetic loci influencing brain and facial shape, distinct from cognitive traits, suggesting a developmental link between brain and face formation.