Matthew Gordon Sampson

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.

This study uses a Drosophila model to functionally assess COL4A5 variants for pathogenicity in Alport syndrome, identifying four pathogenic variants and three benign ones.

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 introduces gkmQC, a sequence-based model to assess and refine chromatin accessibility data quality, improving peak calling and regulatory element alignment.

This paper investigates the inferential reproducibility between transcriptome-wide association studies and colocalization analysis, identifying two classes of inconsistent results and proposing a novel approach to reconcile them.

This study identifies 147 genetic loci associated with eGFR, including 53 novel ones, and finds sex-specific effects on kidney function.

The paper identifies shared molecular pathways between ANCA-associated vasculitis and nephrotic syndrome, highlighting JAK-STAT signaling as a potential therapeutic target.

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.

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.