Harold S. Matthews

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.

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.

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

The paper identifies a SNP that regulates facial shape and disease risk by affecting PKDCC expression during chondrogenesis, showing its impact on both normal variation and clefting.

This paper introduces a single-surface craniofacial bone mask and MeshMonk framework for automated 3D landmarking of human skulls, achieving high accuracy and reliability in phenotyping.

The paper modulates SOX9 levels in human facial progenitors to study dosage sensitivity and identifies regulatory elements and genes that are sensitive to SOX9 changes.

The paper investigates the impact of low-frequency coding variants on facial shape in Europeans, identifying seven genes associated with facial morphology and showing a specific variant's effect on chin shape.