Neil A. Hanchard

High KIR diversity in Uganda and Botswana children living with HIV

This study analyzes KIR diversity in HIV-infected children from Uganda and Botswana, finding differences in allele frequencies and associations with disease progression.

Pathway-Specific Polygenic Risk Scores for Blood Pressure Traits in a West African Cohort

The paper develops pathway-specific polygenic risk scores for hypertension in a West African cohort, finding improved predictive power compared to baseline models.

Common and rare genetic variation intersects with ancestry to influence human skin and plasma carotenoid concentrations

The paper identifies genetic variants associated with plasma and skin carotenoid concentrations across diverse ancestries and highlights ancestry-specific effects.

Admix-kit: An Integrated Toolkit and Pipeline for Genetic Analyses of Admixed Populations

Admix-kit provides tools for genetic analysis of admixed populations, enabling simulation, association testing, and polygenic scoring.

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

This study identifies COPB2 haploinsufficiency as a cause of a coatopathy with osteoporosis and developmental delay, showing disrupted collagen trafficking and potential treatment with ascorbic acid.

Biases in arginine codon usage correlate with genetic disease risk

The paper finds that genes with higher frequencies of CGN arginine codons are more likely to be associated with genetic disorders, particularly dominant conditions.

Capture-based DNA methylation sequencing facilitates diagnosis and reveals potential pathogenic mechanisms in teratogenic diabetes exposure

This study uses DNA methylation analysis to identify diagnostic biomarkers and pathogenic mechanisms in diabetic embryopathy.

Phenotypic expansion in DDX3X -- a common cause of intellectual disability in females

The paper identifies additional DDX3X variants in individuals with intellectual disability and expands the known phenotypic spectrum of DDX3X disorders.