Stephen Richmond

The paper uses 3D craniofacial data and genome-wide association analysis to link craniofacial variation to genetic diversity, evolutionary processes, and clinical conditions in modern humans.

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.

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.

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

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

This study identifies 24 genetic loci associated with facial shape variation in humans through GWAS and confirms 13 of them in a multi-ethnic cohort.

The paper investigates genetic overlap between non-syndromic cleft lip/palate and facial morphology using polygenic risk scores and Mendelian randomization, finding a causal relationship with philtrum width.