Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records.

par Andrew McDavid, Paul K Crane, Katherine M Newton, David R Crosslin, Wayne McCormick, Noah Weston, Kelly Ehrlich, Eugene Hart, Robert Harrison, Walter A Kukull, Carla Rottscheit, Peggy Peissig, Elisha Stefanski, Catherine A McCarty, Rebecca Lynn Zuvich, Marylyn D Ritchie, Jonathan L Haines, Joshua C Denny, Gerard D Schellenberg, Mariza de Andrade, Iftikhar Kullo, Rongling Li, Daniel Mirel, Andrew Crenshaw, James D Bowen, Ge Li, Debby Tsuang, Susan McCurry, Linda Teri, Eric B Larson, Gail P Jarvik, Chris S Carlson
Publié 2013

Medical records-based chronic kidney disease phenotype for clinical care and “big data” observational and genetic studies

par Ning Shang, Atlas Khan, Fernanda Polubriaginof, Francesca Zanoni, Karla Mehl, David Fasel, Paul E. Drawz, Robert J. Carrol, Joshua C. Denny, Matthew A. Hathcock, Adelaide M. Arruda-Olson, Peggy L. Peissig, Richard A. Dart, Murray H. Brilliant, Eric B. Larson, David S. Carrell, Sarah Pendergrass, Shefali Setia Verma, Marylyn D. Ritchie, Barbara Benoit, Vivian S. Gainer, Elizabeth W. Karlson, Adam S. Gordon, Gail P. Jarvik, Ian B. Stanaway, David R. Crosslin, Sumit Mohan, Iuliana Ionita-Laza, Nicholas P. Tatonetti, Ali G. Gharavi, George Hripcsak, Chunhua Weng, Krzysztof Kiryluk
Publié 2021

A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers

par Jonathan D. Mosley, QiPing Feng, Quinn S. Wells, Sara L. Van Driest, Christian M. Shaffer, Todd L. Edwards, Lisa Bastarache, Wei-Qi Wei, Lea K. Davis, Catherine A. McCarty, Will Thompson, Christopher G. Chute, Gail P. Jarvik, Adam S. Gordon, Melody R. Palmer, David R. Crosslin, Eric B. Larson, David S. Carrell, Iftikhar J. Kullo, Jennifer A. Pacheco, Peggy L. Peissig, Murray H. Brilliant, James G. Linneman, Bahram Namjou, Marc S. Williams, Marylyn D. Ritchie, Kenneth M. Borthwick, Shefali S. Verma, Jason H. Karnes, Scott T. Weiss, Thomas J. Wang, C. Michael Stein, Josh C. Denny, Dan M. Roden
Publié 2018

Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.

par Gary W Beecham, Kara Hamilton, Adam C Naj, Eden R Martin, Matt Huentelman, Amanda J Myers, Jason J Corneveaux, John Hardy, Jean-Paul Vonsattel, Steven G Younkin, David A Bennett, Philip L De Jager, Eric B Larson, Paul K Crane, M Ilyas Kamboh, Julia K Kofler, Deborah C Mash, Linda Duque, John R Gilbert, Harry Gwirtsman, Joseph D Buxbaum, Patricia Kramer, Dennis W Dickson, Lindsay A Farrer, Matthew P Frosch, Bernardino Ghetti, Jonathan L Haines, Bradley T Hyman, Walter A Kukull, Richard P Mayeux, Margaret A Pericak-Vance, Julie A Schneider, John Q Trojanowski, Eric M Reiman, Alzheimer's Disease Genetics Consortium (ADGC), Gerard D Schellenberg, Thomas J Montine
Publié 2014

Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study

par Eric M. Reiman, Joseph F. Arboleda-Velasquez, Yakeel T. Quiroz, Matthew J. Huentelman, Thomas G. Beach, Richard J. Caselli, Yinghua Chen, Yi Su, Amanda J. Myers, John Hardy, Jean Paul Vonsattel, Steven G. Younkin, David A. Bennett, Philip L. De Jager, Eric B. Larson, Paul K. Crane, C. Dirk Keene, M. Ilyas Kamboh, Julia K. Kofler, Linda Duque, John R. Gilbert, Harry E. Gwirtsman, Joseph D. Buxbaum, Dennis W. Dickson, Matthew P. Frosch, Bernardino F. Ghetti, Kathryn L. Lunetta, Li-San Wang, Bradley T. Hyman, Walter A. Kukull, Tatiana Foroud, Jonathan L. Haines, Richard P. Mayeux, Margaret A. Pericak-Vance, Julie A. Schneider, John Q. Trojanowski, Lindsay A. Farrer, Gerard D. Schellenberg, Gary W. Beecham, Thomas J. Montine, Gyungah R. Jun, The Alzheimer’s Disease Genetics Consortium
Publié 2020