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Journal Articles
- 2025
[j9]Xihao Li, Han Chen, Margaret Sunitha Selvaraj, Eric Van Buren, Hufeng Zhou, Yuxuan Wang, Ryan Sun, Zachary R. McCaw, Zhi Yu, Min-Zhi Jiang, Daniel DiCorpo, Sheila M. Gaynor, Rounak Dey, Donna K. Arnett, Emelia J. Benjamin, Joshua C. Bis, John Blangero, Eric Boerwinkle, Donald W. Bowden, Jennifer A. Brody, Brian E. Cade, April P. Carson, Jenna C. Carlson, Nathalie Chami, Yii-Der Ida Chen, Joanne E. Curran, Paul S. de Vries, Myriam Fornage, Nora Franceschini, Barry I. Freedman, Charles Gu, Nancy L. Heard-Costa, Jiang He, Lifang Hou, Yi-Jen Hung, Marguerite R. Irvin, Robert C. Kaplan, Sharon L. R. Kardia, Tanika N. Kelly, Iain R. Konigsberg, Charles L. Kooperberg, Brian G. Kral, Changwei Li, Yun Li, Honghuang Lin, Ching-Ti Liu, Ruth J. F. Loos, Michael C. Mahaney, Lisa W. Martin, Rasika A. Mathias, Braxton D. Mitchell, May E. Montasser, Alanna C. Morrison, Take Naseri, Kari E. North, Nicholette D. Palmer, Patricia A. Peyser, Bruce M. Psaty, Susan Redline, Alexander P. Reiner, Stephen S. Rich, Colleen M. Sitlani, Jennifer A. Smith, Kent D. Taylor, Hemant K. Tiwari, Ramachandran S. Vasan, Satupa'itea Viali, Zhe Wang, Jennifer Wessel, Lisa R. Yanek, Bing Yu, Namiko Abe, Gonçalo R. Abecasis, François Aguet, Christine M. Albert, Laura Almasy, Alvaro Alonso, Seth A. Ament, Peter Anderson, Pramod Anugu, Deborah Applebaum-Bowden, Kristin G. Ardlie, Dan E. Arking, Allison Ashley-Koch, Stella Aslibekyan, Themistocles L. Assimes, Dimitrios Avramopoulos, Najib Ayas, Adithya Balasubramanian, John Barnard, Kathleen C. Barnes, R. Graham Barr, Emily Barron-Casella, Lucas Barwick, Terri H. Beaty, Gerald Beck, Diane Becker, Lewis Becker, Rebecca Beer, Amber Beitelshees, Takis Benos, Marcos Bezerra, Larry Bielak, Thomas W. Blackwell, Nathan Blue, Russell Bowler, Ulrich Broeckel, Jai G. Broome, Deborah Brown, Karen A. Bunting, Esteban Gonzàlez Burchard, Carlos Bustamante, Erin Buth, Jonathan Cardwell, Vincent J. Carey, Julie Carrier, Cara L. Carty, Richard Casaburi, Juan P. Casas Romero, James F. Casella, Peter J. Castaldi, Mark Chaffin, Christy Chang, Yi-Cheng Chang, Daniel Chasman, Sameer Chavan, Bo-Juen Chen, Wei-Min Chen, Michael H. Cho, Seung Hoan Choi, Lee-Ming Chuang, Mina K. Chung, Ren-Hua Chung, Clary Clish, Suzy Comhair, Matthew P. Conomos, Elaine Cornell, Adolfo Correa, Carolyn Crandall, James D. Crapo, L. Adrienne Cupples, Jeffrey Curtis, Brian Custer, Coleen Damcott, Dawood Darbar, Sean David, Colleen Davis, Michelle Daya, Michael R. DeBaun, Dawn L. DeMeo, Ranjan Deka, Scott Devine, Huyen Dinh, Harsha Doddapaneni, Qing Duan, Shannon Dugan-Perez, Ravi Duggirala, Jon Peter Durda, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Adel El Boueiz, Patrick T. Ellinor, Leslie Emery, Serpil Erzurum, Charles R. Farber, Jesse Farek, Tasha Fingerlin, Matthew Flickinger, Chris Frazar, Mao Fu, Stephanie M. Fullerton, Lucinda Fulton, Stacey Gabriel, Weiniu Gan, Shanshan Gao, Yan Gao, Margery Gass, Heather Geiger, Bruce D. Gelb, Mark W. Geraci, Soren Germer, Robert E. Gerszten, Auyon Ghosh, Richard A. Gibbs, Christopher Gignoux, Mark Gladwin, David C. Glahn, Stephanie M. Gogarten, Da-Wei Gong, Harald H. Göring, Sharon Graw, Kathryn J. Gray, Daniel Grine, Colin Gross, Yue Guan, Xiuqing Guo, Namrata Gupta, Jeffrey Haessler, Michael Hall, Yi Han, Patrick Hanly, Daniel Harris, Nicola L. Hawley, Benjamin D. Heavner, Susan R. Heckbert, Ryan D. Hernandez, David M. Herrington, Craig P. Hersh, Bertha Hidalgo, James E. Hixson, Brian Hobbs, John E. Hokanson, Elliott Hong, Karin Hoth, Chao Agnes Hsiung, Jianhong Hu, Haley Huston, Chii Min Hwu, Rebecca Jackson, Deepti Jain, Cashell Jaquish, Jill Johnsen, Andrew Johnson, Craig Johnson, Rich Johnston, Kimberly Jones, Hyun Min Kang, Shannon Kelly, Eimear Kenny, Michael D. Kessler, Alyna Khan, Ziad Khan, Wonji Kim, John Kimoff, Greg Kinney, Barbara Konkle, Holly Kramer, Christoph Lange, Ethan M. Lange, Leslie Lange, Cathy C. Laurie, Cecelia A. Laurie, Meryl LeBoff, Jonathon LeFaive, Jiwon Lee, Sandra Lee, Wen-Jane Lee, David Levine, Daniel Levy, Joshua Lewis, Xiaohui Li, Henry Lin, Simin Liu, Yongmei Liu, Yu Liu, Steven A. Lubitz, Kathryn L. Lunetta, James Luo, Ulysses J. Magalang, Barry Make, Ani Manichaikul, JoAnn E. Manson, Melissa Marton, Susan Mathai, Susanne May, Patrick McArdle, Merry-Lynn McDonald, Sean McFarland, Stephen McGarvey, Daniel McGoldrick, Caitlin P. McHugh, Becky McNeil, Hao Mei, Vipin Menon, Luisa Mestroni, Ginger Metcalf, Deborah A. Meyers, Emmanuel Mignot, Julie Mikulla, Nancy Min, Mollie Minear, Ryan L. Minster, Matt Moll, Zeineen Momin, Courtney Montgomery, Donna Muzny, Josyf C. Mychaleckyj, Girish N. Nadkarni, Rakhi Naik, Sergei Nekhai, Sarah C. Nelson, Bonnie Neltner, Caitlin Nessner, Deborah A. Nickerson, Osuji Nkechinyere, Jeffrey R. O'Connell, Tim O'Connor, Heather Ochs-Balcom, Geoffrey Okwuonu, Allan Pack, David T. Paik, James S. Pankow, George J. Papanicolaou, Cora Parker, Juan Manuel Peralta, Marco Perez, James Perry, Ulrike Peters, Lawrence S. Phillips, Jacob Pleiness, Toni Pollin, Wendy Post, Julia Powers Becker, Meher Preethi Boorgula, Michael Preuss, Pankaj Qasba, Dandi Qiao, Zhaohui Qin, Nicholas Rafaels, Mahitha Rajendran, D. C. Rao, Laura Rasmussen-Torvik, Aakrosh Ratan, Robert Reed, Catherine Reeves, Elizabeth A. Regan, Muagututi'a Sefuiva Reupena, Rebecca Robillard, Nicolas Robine, Dan M. Roden, Carolina Roselli, Ingo Ruczinski, Alexi Runnels, Pamela H. Russell, Sarah Ruuska, Kathleen Ryan, Ester Cerdeira Sabino, Danish Saleheen, Shabnam Salimi, Sejal Salvi, Steven Salzberg, Kevin Sandow, Vijay G. Sankaran, Jireh Santibanez, Karen Schwander, David Schwartz, Frank C. Sciurba, Christine E. Seidman, Jonathan Seidman, Vivien Sheehan, Stephanie L. Sherman, Amol Shetty, Aniket Shetty, Wayne Hui-Heng Sheu, M. Benjamin Shoemaker, Brian Silver, Edwin K. Silverman, Robert Skomro, Albert Vernon Smith, Josh Smith, Nicholas Smith, Tanja Smith, Sylvia Smoller, Beverly M. Snively, Michael Snyder, Tamar Sofer, Nona Sotoodehnia, Adrienne M. Stilp, Garrett Storm, Elizabeth Streeten, Jessica Lasky-Su, Yun Ju Sung, Jody Sylvia, Adam Szpiro, Frédéric Sériès, Daniel Taliun, Hua Tang, Margaret Taub, Matthew Taylor, Simeon Taylor, Marilyn Telen, Timothy A. Thornton, Machiko Threlkeld, Lesley Tinker, David Tirschwell, Sarah Tishkoff, Catherine Tong, Russell Tracy, Michael Tsai, Dhananjay Vaidya, David J. Van Den Berg, Peter VandeHaar, Scott Vrieze, Tarik Walker, Robert Wallace, Avram Walts, Fei-Fei Wang, Heming Wang, Jiongming Wang, Karol E. Watson, Jennifer Watt, Daniel E. Weeks, Joshua Weinstock, Bruce Weir, Scott T. Weiss, Lu-Chen Weng, Cristen J. Willer, Kayleen Williams, L. Keoki Williams, Scott Williams, Carla Wilson, James Wilson, Lara Winterkorn, Quenna Wong, Baojun Wu, Joseph Wu, Huichun Xu, Ivana Yang, Ketian Yu, Seyedeh Maryam Zekavat, Yingze Zhang, Snow Xueyan Zhao, Wei Zhao, Xiaofeng Zhu, Elad Ziv, Michael C. Zody, Sebastian Zöllner, Mariza de Andrade, Lisa de las Fuentes, Josée Dupuis, James B. Meigs, Paul L. Auer, Laura M. Raffield, Alisa K. Manning, Kenneth M. Rice, Jerome I. Rotter, Gina M. Peloso, Pradeep Natarajan, Zilin Li, Zhonghua Liu, Xihong Lin:
A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies. Nat. Comput. Sci. 5(2): 125-143 (2025)- [j8]Mostafa A. Al-Alusi, Samuel F. Friedman, Shinwan Kany, Joel T. Rämö
, Daniel Pipilas, Pulkit Singh, Christopher Reeder, Shaan Khurshid, James P. Pirruccello, Mahnaz Maddah, Jennifer E. Ho, Patrick T. Ellinor:
A deep learning digital biomarker to detect hypertension and stratify cardiovascular risk from the electrocardiogram. npj Digit. Medicine 8(1) (2025) - [j7]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, Anthony A. Philippakis, Christopher D. Anderson, Mahnaz Maddah, Puneet Batra, Patrick T. Ellinor, Jennifer E. Ho, Steven A. Lubitz:
Unsupervised deep learning of electrocardiograms enables scalable human disease profiling. npj Digit. Medicine 8(1) (2025) - 2024
- [j6]Helena Abolins-Thompson, Kimiora L. Henare, Bridget Simonson, Mark Chaffin, Patrick T. Ellinor, Claire Henry, Mairarangi Haimona, Jake Aitken, Taku Parai, Bianca Elkington, Michael Rongo, Kirsty M. Danielson, Megan P. Leask:
Culturally responsive strategies and practical considerations for live tissue studies in Māori participant cohorts. Frontiers Res. Metrics Anal. 9 (2024) - 2022
- [j5]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, Mostafa A. Al-Alusi, Xin Wang, Marcus D. R. Klarqvist, Jeffrey M. Ashburner, Christian Diedrich, Mercedeh Ghadessi, Johanna Mielke, Hanna M. Eilken, Alice McElhinney, Andrea Derix, Steven J. Atlas, Patrick T. Ellinor, Anthony A. Philippakis, Christopher D. Anderson, Jennifer E. Ho, Puneet Batra, Steven A. Lubitz:
Cohort design and natural language processing to reduce bias in electronic health records research. npj Digit. Medicine 5 (2022) - [j4]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:
Wearable accelerometer-derived physical activity and incident disease. npj Digit. Medicine 5 (2022) - [j3]Marcus D. R. Klarqvist, Saaket Agrawal, Nathaniel Diamant, Patrick T. Ellinor, Anthony Philippakis, Kenney Ng, Puneet Batra, Amit V. Khera:
Silhouette images enable estimation of body fat distribution and associated cardiometabolic risk. npj Digit. Medicine 5 (2022) - 2021
- [j2]Saaket Agrawal, Marcus D. R. Klarqvist, Connor Emdin, Aniruddh P. Patel, Manish D. Paranjpe, Patrick T. Ellinor, Anthony A. Philippakis, Kenney Ng, Puneet Batra, Amit V. Khera:
Selection of 51 predictors from 13, 782 candidate multimodal features using machine learning improves coronary artery disease prediction. Patterns 2(12): 100364 (2021) - 2020
- [j1]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, Alexander Baumann, Ruchi Munshi, Mark Walker, Christopher W. Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, Matthew R. Stone, Elise Valkanas, Jack Fu, Grace Tiao, Kristen M. Laricchia, Valentín Ruano-Rubio, Christine Stevens, Namrata Gupta, Caroline Cusick, Lauren Margolin, Irina M. Armean, Eric Banks, Louis Bergelson, Kristian Cibulskis, Kristen M. Connolly, Miguel Covarrubias, Beryl B. Cummings, Mark J. Daly, Stacey Donnelly, Yossi Farjoun, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Eric V. Minikel, Benjamin M. Neale, Sam Novod, Anne H. O'Donnell-Luria, Nikelle Petrillo, Timothy Poterba, David Roazen, Andrea Saltzman, Kaitlin E. Samocha, Molly Schleicher, Cotton Seed, José Soto, Kathleen Tibbetts, Charlotte Tolonen, Christopher Vittal, Gordon Wade, Arcturus Wang, Qingbo Wang, James S. Ware, Ben Weisburd, Nicola Whiffin, Carlos A. Aguilar Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Gil Atzmon, John Barnard, Laurent Beaugerie, Emelia J. Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Bottinger, Donald W. Bowden, Matthew J. Bown, John C. Chambers, Juliana C. Chan, Daniel Chasman, Judy Cho, Mina K. Chung, Bruce Cohen, Adolfo Correa, Dana Dabelea, Dawood Darbar, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosua, Jeanette Erdmann, Tõnu Esko, Martti Färkkilä, Jose Florez, Andre Franke, Gad Getz, Benjamin Glaser, Stephen J. Glatt, David Goldstein, Clicerio Gonzalez, Leif Groop, Christopher A. Haiman, Craig Hanis, Matthew Harms, Mikko Hiltunen, Matti M. Holi, Christina M. Hultman, Mikko Kallela, Jaakko Kaprio, Sekar Kathiresan, Bong-Jo Kim, Young Jin Kim, George Kirov, Jaspal Kooner, Seppo Koskinen, Harlan M. Krumholz, Subra Kugathasan, Soo Heon Kwak, Markku Laakso, Terho Lehtimäki, Ruth J. F. Loos, Steven A. Lubitz, Ronald C. W. Ma, Daniel G. MacArthur, Jaume Marrugat, Kari M. Mattila, Steven A. McCarroll, Mark I. McCarthy, Dermot McGovern, Ruth McPherson, James B. Meigs, Olle Melander, Andres Metspalu, Peter M. Nilsson, Michael C. O'Donovan, Dost Öngür, Lorena Orozco, Michael J. Owen, Colin N. A. Palmer, Aarno Palotie, Kyong Soo Park, Carlos Pato, Ann E. Pulver, Nazneen Rahman, Anne M. Remes, John D. Rioux, Samuli Ripatti, Dan M. Roden, Danish Saleheen, Veikko Salomaa, Nilesh J. Samani, Jeremiah Scharf, Heribert Schunkert, Moore B. Shoemaker, Pamela Sklar, Hilkka Soininen, Harry Sokol, Tim Spector, Patrick F. Sullivan, Jaana Suvisaari, E. Shyong Tai, Yik Ying Teo, Tuomi Tiinamaija, Ming Tsuang, Dan Turner, Teresa Tusie-Luna, Erkki Vartiainen, Hugh Watkins, Rinse K. Weersma, Maija Wessman, James G. Wilson, Ramnik J. Xavier, Kent D. Taylor, Henry J. Lin, Stephen S. Rich, Wendy S. Post, Yii-Der Ida Chen, Jerome I. Rotter, Chad Nusbaum, Anthony A. Philippakis, Eric S. Lander, Michael E. Talkowski:
A structural variation reference for medical and population genetics. Nat. 581(7809): 444-451 (2020)
Conference and Workshop Papers
- 2022
- [c4]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:
Assessing the Robustness and Internal Consistency of the Pooled Cohort Equations. AMIA 2022 - [c3]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:
RMExplorer: A Visual Analytics Approach to Explore the Performance and the Fairness of Disease Risk Models on Population Subgroups. IEEE VIS (Short Papers) 2022: 50-54 - 2021
- [c2]Uri Kartoun, Shaan Khurshid, Bum Chul Kwon, Amit V. Khera, Patrick T. Ellinor, Steven A. Lubitz, Kenney Ng:
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. AMIA 2021 - [c1]Bum Chul Kwon, Uri Kartoun, Shaan Khurshid, Amit V. Khera, Patrick T. Ellinor, Steven A. Lubitz, Kenney Ng:
Interactive Model Report Card for Visual Exploration of Performance Heterogeneity and Biases on Population Subgroups. AMIA 2021
Informal and Other Publications
- 2023
- [i3]José Roberto Tello-Ayala, Akl C. Fahed, Weiwei Pan, Eugene V. Pomerantsev, Patrick T. Ellinor, Anthony Philippakis, Finale Doshi-Velez:
Signature Activation: A Sparse Signal View for Holistic Saliency. CoRR abs/2309.11443 (2023) - [i2]Bum Chul Kwon, Samuel F. Friedman, Kai Xu, Steven A. Lubitz, Anthony Philippakis, Puneet Batra, Patrick T. Ellinor, Kenney Ng:
Latent Space Explorer: Visual Analytics for Multimodal Latent Space Exploration. CoRR abs/2312.00857 (2023) - 2022
- [i1]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:
RMExplorer: A Visual Analytics Approach to Explore the Performance and the Fairness of Disease Risk Models on Population Subgroups. CoRR abs/2209.06378 (2022)
Coauthor Index
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