H. Richard Johnston

The paper analyzes genetic ancestry and population structure in the All of Us Research Program cohort, revealing diverse ancestry patterns and population structure.

The paper identifies chromatin regulatory genes as genetic modifiers of conotruncal heart defects in 22q11.2 deletion syndrome and links them to sporadic congenital heart disease.

This study investigates the molecular effects of the 3q29 deletion on the human neural transcriptome, identifying convergent and distributed impacts across gene clusters and pathways related to psychiatric disorders.

The paper shows that sex-specific differences in meiotic recombination rates are associated with parental origin biases in recurrent genomic disorders.

This study evaluates 32 individuals with 3q29 deletion syndrome to identify common medical and neurodevelopmental features and provides clinical care recommendations.

The paper introduces a method to selectively isolate A-to-I edited transcripts using Endonuclease V under Ca2+ conditions, improving sensitivity and accuracy for detecting RNA modifications.

The paper designs a genotyping array (ADPC) for African-specific genetic variation using whole genome sequences from the CAAPA consortium, improving GWAS for African ancestry populations.

This study identifies novel asthma susceptibility loci in individuals of African ancestry through genome-wide association analysis and admixture mapping.