A structural variation reference for medical and population genetics. - Ryan L. Collins; Harrison Brand; Konrad J. Karczewski; Xuefang Zhao; Jessica Alföldi; Laurent C. Francioli; Amit V. Khera; Chelsea Lowther; Laura D. Gauthier; Harold Wang; Nicholas A. Watts; Matthew Solomonson; et al. (Nat., 2020)

How Robust is Your Risk Model? Assessing Subpopulation Performance Heterogeneity in Risk Models Based on Discrimination, Calibration, and Fairness Measures: An Atrial Fibrillation Use Case. - Uri Kartoun; Shaan Khurshid; Bum Chul Kwon; Amit V. Khera; Patrick T. Ellinor; Steven A. Lubitz; Kenney Ng (AMIA, 2021)

Interactive Model Report Card for Visual Exploration of Performance Heterogeneity and Biases on Population Subgroups. - Bum Chul Kwon; Uri Kartoun; Shaan Khurshid; Amit V. Khera; Patrick T. Ellinor; Steven A. Lubitz; Kenney Ng (AMIA, 2021)

Assessing the Robustness and Internal Consistency of the Pooled Cohort Equations. - Uri Kartoun; Shaan Khurshid; BC Kwon; Aniruddh P. Patel; Akl Fahed; Puneet Batra; Anthony A. Philippakis; Steven A. Lubitz; Amit V. Khera; Patrick T. Ellinor; Vibha Anand; Kenney Ng (AMIA, 2022)

RMExplorer: A Visual Analytics Approach to Explore the Performance and the Fairness of Disease Risk Models on Population Subgroups. - Bum Chul Kwon; Uri Kartoun; Shaan Khurshid; Mikhail Yurochkin; Subha Maity; Deanna G. Brockman; Amit V. Khera; Patrick T. Ellinor; Steven A. Lubitz; Kenney Ng (IEEE VIS (Short Papers), 2022)

Cohort design and natural language processing to reduce bias in electronic health records research. - Shaan Khurshid; Christopher Reeder; Lia X. Harrington; Pulkit Singh; Gopal Sarma; Samuel F. Friedman; Paolo Di Achille; Nathaniel Diamant; Jonathan W. Cunningham; Ashby C. Turner; Emily S. Lau; Julian S. Haimovich; et al. (npj Digit. Medicine, 2022)

Wearable accelerometer-derived physical activity and incident disease. - Shaan Khurshid; Lu-Chen Weng; Victor Nauffal; James P. Pirruccello; Rachael A. Venn; Mostafa A. Al-Alusi; Emelia J. Benjamin; Patrick T. Ellinor; Steven A. Lubitz (npj Digit. Medicine, 2022)

Latent Space Explorer: Visual Analytics for Multimodal Latent Space Exploration. - Bum Chul Kwon; Samuel F. Friedman; Kai Xu; Steven A. Lubitz; Anthony Philippakis; Puneet Batra; Patrick T. Ellinor; Kenney Ng (CoRR, 2023)

Unsupervised deep learning of electrocardiograms enables scalable human disease profiling. - Samuel F. Friedman; Shaan Khurshid; Rachael A. Venn; Xin Wang; Nathaniel Diamant; Paolo Di Achille; Lu-Chen Weng; Seung Hoan Choi; Christopher Reeder; James P. Pirruccello; Pulkit Singh; Emily S. Lau; et al. (npj Digit. Medicine, 2025)

A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies. - Xihao Li; Han Chen; Margaret Sunitha Selvaraj; Eric Van Buren; Hufeng Zhou; Yuxuan Wang 008; Ryan Sun; Zachary R. McCaw; Zhi Yu; Min-Zhi Jiang; Daniel DiCorpo; Sheila M. Gaynor; et al. (Nat. Comput. Sci., 2025)