Michelle T. McNulty

This study maps allele-specific expression in human kidney disease, finding increased glomerular ASE associated with better disease outcomes.

This study identifies recessive variants in the NOS1AP-C1orf226 intergenic locus causing monogenic kidney disease and shows responsiveness to anti-proteinuric treatment.

This paper introduces TSIM, a two-stage imputation method for GWAS that harmonizes heterogeneous genotyping data, controlling errors and replicating known associations without false positives.

The paper shows the APOL1 p.N264K variant reduces the risk of FSGS and kidney disease in individuals with G2 APOL1 risk alleles.

The paper identifies high-resolution eQTLs in kidney tissues using Bayesian fine mapping with integrative priors, improving resolution and functional relevance.

The paper identifies eQTLs in glomerular and tubulointerstitial kidney tissues from nephrotic syndrome patients, finds tissue-specific eQTLs, and integrates them with a GWAS to identify associated genes.