Research

View my Google Scholar here.

First-author publications

Genomics of drug target prioritization for complex diseases.
R. Chen, Á. Duffy, R. Do.
Nature Reviews Genetics, 2025.
Genetic evidence informs the direction of therapeutic modulation in drug development.
R. Chen, Á. Duffy, (...), R. Do.
npj Drug Discovery, 2025.
Genetic analyses of eight complex diseases using predicted continuous representations of disease.
R. Chen, G. Rocheleau, (...), R. Do.
Cell Reports Methods, 2025.
AHA PREVENT equations and cardiovascular disease risk in diverse healthcare populations.
[S. M. Cho, M. Levin, R. Chen][equal contribution], (...), R. Do, P. Natarajan.
JACC, 2025.
Trans-ancestral rare variant association study with machine learning-based phenotyping for metabolic dysfunction-associated steatotic liver disease.
R. Chen, B. O. Petrazzini, (...), R. Do.
Genome Biology, 2025.
Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score.
R. Chen, Á. Duffy, (...), R. Do.
Nature Communications, 2024.
Comparison of blood-based liver fibrosis scores in the Mount Sinai Health System, MASLD Registry, and NHANES 2017-2020 study.
R. Chen, B. O. Petrazzini, (...), M. Bansal, R. Do.
Hepatology Communications, 2024.
Prediction of venous thromboembolism in diverse populations using machine learning and structured electronic health records.
R. Chen, B. O. Petrazzini, W. Malick, R. Rosenson, R. Do.
ATVB, 2024. (Selected as Featured Article)
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
R. Chen, M. A. Diaz-Miranda, (...), M. Luo.
Human Mutation, 2022.
Digital haemophilia: insights into the use of social media for haemophilia care, research, and advocacy.
R. Chen, K. Muralidharan, B. Samelson-Jones.
Haemophilia, 2022.

Co-author publications

Development of a genetic priority score to predict drug side effects using human genetic evidence.
Á. Duffy, R. Chen, (...), R. Do.
Nature Communications, 2025.
16q24.3 microdeletions disrupting upstream non-coding region of ANKRD11 cause KBG syndrome.
A. Iwata-Otsubo, A. L. Rippert, (...), R. Chen, (...), K. Izumi.
Genes, 2025.
Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease.
B. O. Petrazzini, I. S. Forrest, (...), R. Chen, (...), R. Do.
Nature Genetics, 2024.
Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications.
Á. Duffy, B. O. Petrazzini, (...), R. Chen, (...), R. Do.
Nature Genetics, 2024.
Comprehensive gene panel testing for hearing loss in children: understanding factors impacting diagnostic yield.
N. Yamamoto, J. Balciuniene, (...), R. Chen, (...), M. Luo.
Journal of Pediatrics, 2023.

Presentations

(Poster) Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score.
R. Chen, Á. Duffy, (...), R. Do.
ASHG 2024, Denver, USA.
(Oral) Prediction of venous thromboembolism in diverse populations using machine learning and structured electronic health records.
R. Chen, B. O. Petrazzini, R. Do.
ISTH 2023, Montréal, CA.
(Poster) Ontogeny of the alloimmune anti-canine factor VIII inhibitor response in severe hemophilia A dogs.
R. Chen, B. Doshi, (...), V. Bhoj, D. Siegel.
ASH 2022, Atlanta, USA. (Recipient of ASH Abstract Achievement Award)
(Oral) Purifying the needle in the haystack: a novel immunoproteomic pipeline for the characterization of anti-FVIII antibodies in hemophilia A inhibitor patients.
R. Chen, B. Doshi, (...), V. Bhoj, B. Samelson-Jones.
ISTH 2021, Philadelphia, USA. (Recipient of ISTH Travel Award)