First-author publications

1. R. Chen, Á. Duffy, (…), R. Do. Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score. Nature Communications 2024.
2. R. Chen, B. O. Petrazzini, (…), M. Bansal, R. Do. Comparison of blood-based liver fibrosis scores in the Mount Sinai Health System, MASLD Registry, and NHANES 2017-2020 study. Hepatology Communications 2024.
3. R. Chen, B. O. Petrazzini, W. Malick, R. Rosenson, R. Do. Prediction of venous thromboembolism in diverse populations using machine learning and structured electronic health records. ATVB 2024. (Selected as Featured Article)
4. R. Chen, B. O. Petrazzini, (…), R. Do. Machine learning enables single-score assessment of MASLD presence and severity. medRxiv 2023.
5. R. Chen, M. A. Diaz-Miranda, (…), M. Luo. Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss. Human Mutation 2022.
6. R. Chen, K. Muralidharan, B. Samelson-Jones. Digital haemophilia: insights into the use of social media for haemophilia care, research, and advocacy. Haemophilia 2022.

Co-author publications

1. B. O. Petrazzini, I. S. Forrest, (…), R. Chen, (…), R. Do. Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease. Nature Genetics 2024.
2. Á. Duffy, B. O. Petrazzini, (…), R. Chen, (…), R. Do. Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications. Nature Genetics 2024.
3. N. Yamamoto, J. Balciuniene, (…), R. Chen, (…), M. Luo. Comprehensive gene panel testing for hearing loss in children: understanding factors impacting diagnostic yield. Journal of Pediatrics 2023.

Presentations

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