Jenna C. Carlson

This study examines the effect of a population-specific variant on gene expression in adipose tissue of Samoan adults, identifying 22 differentially expressed genes.

The paper performs trio-based GWAS on cleft lip subtypes to identify novel genetic loci associated with specific phenotypes.

This study uses a pleiotropy-informed GWAS method to identify new orofacial cleft risk loci by leveraging genetic associations with facial shape.

The paper imputes structural variants and SNVs in Samoans using a population-specific reference panel, showing improved imputation performance compared to multi-ancestry panels.

The paper evaluates polygenic score transferability for lipid traits in Samoan populations using genome-wide imputed genotypes and finds meaningful performance for LDL-C with a genome-wide PRS-CS score.

This study conducts a GWAS of Native Hawaiians and Polynesian-ancestry populations to identify population-enriched genetic associations for cardiometabolic traits, confirming some variants and highlighting the need for larger cohorts.

cellSTAAR integrates single-cell ATAC-seq with whole-genome sequencing to enhance power and interpretation of rare variant association tests in non-coding regions.

The paper estimates HHT prevalence using gnomAD variant frequencies and three methods, finding it 2-12 times higher than current estimates.

The paper investigates gene-environment interactions involving maternal exposures and orofacial cleft risk in Filipinos, identifying suggestive interactions with smoking and vitamin use.

The paper annotates de novo variants near GWAS loci for cleft lip with or without cleft palate, finding noncoding variants in enhancer regions associated with craniofacial development genes.

This paper identifies eleven genome-wide suggestive loci and seven transcriptome-wide significant genes associated with AMH levels in Samoan women using GWAS and TWAS.

The paper introduces MultiSTAAR, a statistical framework for multi-trait rare variant analysis in WGS studies, identifying new lipid trait associations in diverse populations.

This study identifies three new genetic loci associated with orofacial cleft risk and confirms known risk genes, providing insights into the molecular mechanisms of facial development.

The paper constructs a Samoan-specific imputation reference panel, showing improved genotype imputation quality compared to existing panels for Samoan populations.

The paper identifies 83 rare lncRNA variant sets associated with blood lipid levels using WGS data from the TOPMed program and validates some in UK Biobank data.

This study identifies rare variants in SEC24D associated with orofacial cleft subtypes and shows they affect transcription factor binding sites.

The paper identifies a stop-gain variant in BTNL9 associated with lower HDL-C and higher triglycerides in Polynesian populations.

The paper estimates heritability for height and BMI using whole-genome sequence data and finds that rare variants contribute significantly to the missing heritability.

The paper identifies gene-environment interactions associated with orofacial cleft risk, highlighting VGLL2 and PRL as key genes interacting with alcohol and smoking, respectively.

The paper examines the direct and indirect effects of rs373863828 on type 2 diabetes and fasting glucose in Polynesians, finding BMI mediates part of its effect.

The paper identifies a population-specific missense variant in CETP that lowers CETP activity and improves lipid profile, similar to loss-of-function mutations.

The paper identifies a genetic modifier, FAT4, associated with left-sided cleft lip and palate, suggesting genetic factors differ from epidemiological patterns.

The paper investigates genetic differences between bilateral and unilateral cleft lip and palate subtypes using genome-wide association studies and finds distinct genetic architectures.

This study conducts genome-wide association analysis in Samoans to identify genetic variants associated with fasting serum lipid levels, finding both shared and Polynesian-specific associations.

This study finds that a missense variant in CREBRF is associated with increased height in Samoan adults and children.

The paper identifies a regulatory variant near human KRT8/18 by analyzing zebrafish periderm enhancers and predicting the effect of OFC-associated SNPs.

The paper develops a framework to analyze subtype-specific and shared genetic effects in orofacial clefting and applies it to identify loci associated with different subtypes.

The paper identifies sex-specific risk alleles for nonsyndromic orofacial clefts through genome-wide interaction studies, finding a significant gene-by-sex effect at the 10q21 locus.