O52: Phenotypic convergence in the diagnostic process of Mendelian genetic disorders* by Rory Tinker, Josh Peterson, Lisa Bastarache

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P298: Characterization of electronic health record features in critically ill neonates with genetic diagnoses by Bryce Schuler, Jennifer Sucre, Lisa Bastarache, Douglas Ruderfer

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P296: Leveraging electronic health records (EHR) to identify patients with rare disease: An atypical case of aromatic L-amino acid decarboxylase deficiency by Megan Shuey, Erica Nelson, Lucas Richter, Theodore Morley, Lisa Bastarache, Douglas Ruderfer

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P818: Data from electronic healthcare records expands our understanding of X-linked genetic diseases* by Rory Tinker, Lisa Bastarache, Kimberly Ezell, Serena Neumann, Yutaka Furuta, Karee Morgan, John Phillips

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11 Novel Systematic Method for Identifying Congenital Anomaly Cases in Electronic Health Record Databases by Elly Brokamp, Lisa Bastarache, Nancy Cox, Rizwan Hamid, Nikhil K. Khanakari, Gillian Hooker, Megan Shuey

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Defining the complex phenotype of severe systemic loxoscelism using a large electronic health record cohort. by Jamie R Robinson, Vanessa E Kennedy, Youssef Doss, Lisa Bastarache, Joshua Denny, Jeremy L Warner

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Cox regression increases power to detect genotype-phenotype associations in genomic studies using the electronic health record by Jacob J. Hughey, Seth D. Rhoades, Darwin Y. Fu, Lisa Bastarache, Joshua C. Denny, Qingxia Chen

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Population genetic testing and SERPINA1 sequencing identifies unidentified alpha-1 antitrypsin deficiency alleles and gene-environment interaction with hepatitis C infection by Bryce A. Schuler, Lisa Bastarache, Janey Wang, Jing He, Sara L. Van Driest, Joshua C. Denny

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Genetic variants associated with sepsis-associated acute kidney injury. by Nicholas J Douville, Lisa Bastarache, Emily Bertucci-Richter, Snehal Patil, Elizabeth S Jewell, Robert E Freundlich, Miklos D Kertai, Milo C Engoren

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P328: The contribution of mosaicism to genetic diseases and presumed de novo mutations* by Rory Tinker, Lisa Bastarache, Kimberly Ezell, Shilpa Nadimpalli Kobren, Cecilia Esteves, Rizwan Hamid, Joy Cogan, David Rinker, Souhrid Mukharjee, John A. Phillips

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Integrating EMR-linked and in vivo functional genetic data to identify new genotype-phenotype associations. by Jonathan D Mosley, Sara L Van Driest, Peter E Weeke, Jessica T Delaney, Quinn S Wells, Lisa Bastarache, Dan M Roden, Josh C Denny

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Comparison of HLA allelic imputation programs. by Jason H Karnes, Christian M Shaffer, Lisa Bastarache, Silvana Gaudieri, Andrew M Glazer, Heidi E Steiner, Jonathan D Mosley, Simon Mallal, Joshua C Denny, Elizabeth J Phillips, Dan M Roden

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Genetic and clinical determinants of telomere length by Patrick Allaire, Jing He, John Mayer, Luke Moat, Peter Gerstenberger, Reynor Wilhorn, Sierra Strutz, David S.L. Kim, Chenjie Zeng, Nancy Cox, Jerry W. Shay, Joshua Denny, Lisa Bastarache, Scott Hebbring

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Identifying genetically driven clinical phenotypes using linear mixed models by Jonathan D. Mosley, John S. Witte, Emma K. Larkin, Lisa Bastarache, Christian M. Shaffer, Jason H. Karnes, C. Michael Stein, Elizabeth Phillips, Scott J. Hebbring, Murray H. Brilliant, John Mayer, Zhan Ye, Dan M. Roden, Joshua C. Denny

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Genetic predisposition may not improve prediction of cardiac surgery-associated acute kidney injury by Nicholas J. Douville, Nicholas J. Douville, Nicholas J. Douville, Daniel B. Larach, Adam Lewis, Lisa Bastarache, Anita Pandit, Jing He, Michael Heung, Michael Mathis, Michael Mathis, Michael Mathis, Jonathan P. Wanderer, Jonathan P. Wanderer, Sachin Kheterpal, Ida Surakka, Miklos D. Kertai

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Limited clinical utility for GWAS or polygenic risk score for postoperative acute kidney injury in non-cardiac surgery in European-ancestry patients by Daniel B. Larach, Adam Lewis, Lisa Bastarache, Anita Pandit, Jing He, Anik Sinha, Nicholas J. Douville, Michael Heung, Michael R. Mathis, Jonathan D. Mosley, Jonathan P. Wanderer, Sachin Kheterpal, Matthew Zawistowski, Chad M. Brummett, Edward D. Siew, Cassianne Robinson-Cohen, Miklos D. Kertai

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Relationship between very low low-density lipoprotein cholesterol concentrations not due to statin therapy and risk of type 2 diabetes: A US-based cross-sectional observational stu... by QiPing Feng, Wei-Qi Wei, Cecilia P Chung, Rebecca T Levinson, Alexandra C Sundermann, Jonathan D Mosley, Lisa Bastarache, Jane F Ferguson, Nancy J Cox, Dan M Roden, Joshua C Denny, MacRae F Linton, Digna R Velez Edwards, C Michael Stein

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Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data. by Jonathan D Mosley, Sara L Van Driest, Emma K Larkin, Peter E Weeke, John S Witte, Quinn S Wells, Jason H Karnes, Yan Guo, Lisa Bastarache, Lana M Olson, Catherine A McCarty, Jennifer A Pacheco, Gail P Jarvik, David S Carrell, Eric B Larson, David R Crosslin, Iftikhar J Kullo, Gerard Tromp, Helena Kuivaniemi, David J Carey, Marylyn D Ritchie, Josh C Denny, Dan M Roden

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Joint mouse–human phenome-wide association to test gene function and disease risk by Xusheng Wang, Ashutosh K. Pandey, Megan K. Mulligan, Evan G. Williams, Khyobeni Mozhui, Zhengsheng Li, Virginija Jovaisaite, L. Darryl Quarles, Zhousheng Xiao, Jinsong Huang, John A. Capra, Zugen Chen, William L. Taylor, Lisa Bastarache, Xinnan Niu, Katherine S. Pollard, Daniel C. Ciobanu, Alexander O. Reznik, Artem V. Tishkov, Igor B. Zhulin, Junmin Peng, Stanley F. Nelson, Joshua C. Denny, Johan Auwerx, Lu Lu, Robert W. Williams

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Clinical associations with a polygenic predisposition to benign lower white blood cell counts by Jonathan D. Mosley, John P. Shelley, Alyson L. Dickson, Jacy Zanussi, Laura L. Daniel, Neil S. Zheng, Lisa Bastarache, Wei-Qi Wei, Mingjian Shi, Gail P. Jarvik, Elisabeth A. Rosenthal, Atlas Khan, Alborz Sherafati, Iftikhar J. Kullo, Theresa L. Walunas, Joseph Glessner, Hakon Hakonarson, Nancy J. Cox, Dan M. Roden, Stephan G. Frangakis, Brett Vanderwerff, C. Michael Stein, Sara L. Van Driest, Scott C. Borinstein, Xiao-Ou Shu, Matthew Zawistowski, Cecilia P. Chung, Vivian K. Kawai

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