Publications & Talks

For more detailed (and possibly more up-to-date) information, check out my Google Scholar. Read more about the below, as well as posters I've presented, in my CV.

Papers
Representative papers are highlighted. * indicates co-first author.

2024

Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects.
Karczewski KJ*, Gupta R*, Kanai M*, Lu W, Tsuo K, Wang Y, Walters RK, et al.
medRxiv, 2024
Mitochondrial genome copy number variation across tissues in mice and humans.
Rath SP, Gupta R, Todres E, Wang H, Jourdain AA, Ardlie KG, Calvo SE, Mootha VK
Proceedings of the National Academy of Sciences, 2024
Circulating N-lactoyl-amino acids and N-formyl-methionine reflect mitochondrial dysfunction and predict mortality in septic shock.
Rogers RS, Sharma R, Shah HB, Skinner OS, Guo XA, Panda A, Gupta R, et al.
Metabolomics, 2024

2023

Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.
Gupta R, Kanai M, Durham TJ, Tsuo K, McCoy JG, Kotrys AV, Zhou W, et al.
Nature, 2023
Low and differential polygenic score generalizability among African populations due largely to genetic diversity.
Majara L, Kalungi A, Koen N, Tsuo K, Wang Y, Gupta R, Nkambule LL, et al.
Human Genetics and Genomics Advances, 2023
HAPNEST: efficient, large-scale generation and evaluation of synthetic datasets for genotypes and phenotypes.
Wharrie S, Yang Z, Raj V, Monti R, Gupta R, Wang Y, Martin A, et al.
Bioinformatics, 2023

2022

Multi-ancestry meta-analysis of asthma identifies novel associations and highlights the value of increased power and diversity.
Tsuo K, Zhou W, Wang Y, Kanai M, Namba S, Gupta R, Majara L, et al.
Cell Genomics, 2022

2021

Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative.
Nature, 2021
Human genetic analyses of organelles highlight the nucleus in age-related trait heritability.
Gupta R, Karczewski KJ, Howrigan D, Neale BM, Mootha VK.
eLife, 2021

2020

MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations.
Rath S*, Sharma R*, Gupta R*, Ast T, Chan C, Durham TJ, Goodman RP, et al.
Nucleic Acids Research, 2020

2018

Systems analyses reveal physiological roles and genetic regulators of liver lipid species.
Jha P*, McDevitt MT*, Gupta R*, Quiros PM, Williams EG, Gariani K, Sleiman MB, et al.
Cell Systems, 2018
Genetic regulation of plasma lipid species and their association with metabolic phenotypes.
Jha P, McDevitt MT, Halilbasic E, Williams EG, Quiros PM, Gariani K, Sleiman MB, Gupta R, et al.
Cell Systems, 2018

2017

The proline/arginine dipeptide from hexanucleotide repeat expanded C9ORF72 inhibits the proteasome.
Gupta R*, Lan M*, Mojsilovic-Petrovic J, Choi WH, Safren N, Barmada S, Lee MJ, Kalb R
eNeuro, 2017
Talks
Uncovering mechanisms driving mtDNA variation across 750,000 people. Freedom Together Foundation Annual Meeting. Plenary session. 2025.
Biobank-scale analysis of mtDNA copy number and heteroplasmy. MGH Center for Genomic Medicine Seminar Series. Oral presentation. 2024.
Nuclear genetic control of mtDNA homeostasis revealed from >250,000 diverse human genomes. All of Us Office Hours Researcher Presentation. Invited oral presentation. 2024.
Nuclear genetic control of mtDNA homeostasis revealed from >250,000 human genomes. Keystone Meeting; Mitochondrial Dysfunction: From Ultra-rare Diseases To Aging. Plenary session. 2023.
Nuclear genetic control of mtDNA homeostasis revealed from >250,000 human genomes. EUROMIT. Invited oral presentation. 2023.
Nuclear genetic control of mtDNA homeostasis revealed from >250,000 human genomes. Broad Institute Board of Scientific Counselors Meeting. Oral presentation. 2023.
The genetic determinants of mitochondrial function and aging in humans. Howard Hughes Medical Institute Deconstructing and Decoding the Genome Conference. Poster + presentation. 2022.
Assessing mitochondrial dysfunction at biobank scale. Harvard Program in Genetics and Genomics Seminar. Oral presentation. 2022.
Quantifying mitochondrial dysfunction at biobank scale. MGH Center for Genomic Medicine Seminar Series. Oral presentation. 2021.