Publications

A list of selected publications I have contributed to over the years.

Selected publications: Click on any title or image to learn more about each work.

Genetic determinants of zinc homeostasis

In this study, we analyzed the genetics of zinc and its role in cardiometabolic diseases by conducting a GWAS meta-analysis on urinary zinc levels, comparing results to the genetics of circulating zinc levels and conducting follow-up experiments in mice.

Sadler, M.C., Ghobril, J.P., Borisov, O., Perrais, M., Schiano, G., et al. Genetic determinants of zinc homeostasis and its role in cardiometabolic diseases. PLoS Genetics 21, 12 (2025).

Pharmacogenetics using EHRs

In this study, we analyzed electronic health records in the UK Biobank and All of Us research program to extract drug response phenotypes for ten cardiometabolic medication-biomarker pairs and conduct pharmacogenetics GWAS thereof.

Sadler, M.C., Apostolov, A., Cevallos, C. et al. Leveraging large-scale biobank EHRs to enhance pharmacogenetics of cardiometabolic disease medications. Nat Commun 16, 2913 (2025).

Disease liability from deep neural networks

In this study, we computed disease liabilities from deep neural networks and introduced liability and meta-GWAS methods leveraging these scores to explore genetic associations in binary traits.

Yang, L.*, Sadler, M.C.* & Altman, R.B. Genetic association studies using disease liabilities from deep neural networks. Am J Hum Genet 112, 675–692 (2025).

Genetic support for drug targets

In this study we compared and benchmarked genetically informed approaches combined with network diffusion to prioritize drug target genes. Gene prioritization methods were based on large-scale GWAS and ExWAS, as well as tissue-wide and whole-blood expression and protein QTLs.

Sadler, M.C., Auwerx, C., Deelen, P. et al. Multi-layered genetic approaches to identify approved drug targets. Cell Genom 3, 7 (2023).

Quantifying omics mediation

We used a three-sample Mendelian randomization study design to explore the role of transcript levels in mediating DNA methylation effects on complex traits and diseases.

Sadler, M.C., Auwerx, C., Lepik, K. et al. Quantifying the role of transcript levels in mediating DNA methylation effects on complex traits and diseases. Nat Commun 13, 7559 (2022)

Review: From Pharmacogenetics to Pharmaco-omics

In this review, we discuss past, present, and future developments of pharmacogenetics methodology, with an emphasis on how multi-dimensional omics datasets can improve the mechanistic understanding of the interplay between genes and drugs.

Auwerx, C.*, Sadler, M.C.*, Reymond, A. et al. From pharmacogenetics to pharmaco-omics: Milestones and future directions. Hum Genet Genom Adv 3, 2 (2022).

Uromodulin and chronic kidney disease

Using Mendelian randomization, we demonstrate that genetically elevated uromodulin levels have a direct, causal, and adverse effect on kidney function, opposite to the observed correlation.

Ponte, B.*, Sadler, M.C.*, Olinger, E. et al. Mendelian randomization to assess causality between uromodulin, blood pressure, and chronic kidney disease. Kidney Int. 100, 1282-1291 (2021).

Transcriptome correlations vs causation

Using Mendelian randomization and observed transcriptomic correlations, we show that gene expression changes linked to disease more often reflect consequences of the disease than causes.

Porcu, E., Sadler, M.C., Lepik, K. et al. Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome. Nat Commun 12, 5647 (2021).

For a complete list see Google scholar