Showing 1 - 5 results of 5 for search 'Penn Medicine Biobank', query time: 0.01s Refine Results
  1. 1
    Titin-Truncating variants predispose to dilated cardiomyopathy in populations genetically similar to african and european reference populations.

    Titin-Truncating variants predispose to dilated cardiomyopathy in populations genetically similar to african and european reference populations. by John DePaolo, Marc R Bornstein, Renae Judy, Sarah Abramowitz, Shefali S Verma, Michael G Levin, Penn Medicine Biobank, Zoltan Arany, Scott M Damrauer

    Published 2025-06-01
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  2. 2
    Automated characterization of abdominal MRI exams using deep learning

    Automated characterization of abdominal MRI exams using deep learning by Joonghyun Kim, Allison Chae, Jeffrey Duda, Arijitt Borthakur, Daniel J. Rader, James C. Gee, Charles E. Kahn, Penn Medicine BioBank, Walter R. Witschey, Hersh Sagreiya

    Published 2025-07-01
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  3. 3
    Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort.

    Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort. by Daniel Hui, Shadi Mehrabi, Alexandra E Quimby, Tingfang Chen, Sixing Chen, Joseph Park, Binglan Li, Regeneron Genetics Center, Penn Medicine Biobank, Michael J Ruckenstein, Daniel J Rader, Marylyn D Ritchie, Jason A Brant, Douglas J Epstein, Iain Mathieson

    Published 2023-01-01
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  4. 4
    Risk factors affecting polygenic score performance across diverse cohorts

    Risk factors affecting polygenic score performance across diverse cohorts by Daniel Hui, Scott Dudek, Krzysztof Kiryluk, Theresa L Walunas, Iftikhar J Kullo, Wei-Qi Wei, Hemant Tiwari, Josh F Peterson, Wendy K Chung, Brittney H Davis, Atlas Khan, Leah C Kottyan, Nita A Limdi, Qiping Feng, Megan J Puckelwartz, Chunhua Weng, Johanna L Smith, Elizabeth W Karlson, Regeneron Genetics Center, Penn Medicine BioBank, Gail P Jarvik, Marylyn D Ritchie

    Published 2025-01-01
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  5. 5
    A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

    A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations by Anton Safonov, Tomoki T. Nomakuchi, Elizabeth Chao, Carrie Horton, Jill S. Dolinsky, Amal Yussuf, Marcy Richardson, Virginia Speare, Shuwei Li, Zoe C. Bogus, Maria Bonanni, Anna Raper, Trust Odia, Bradley S. Wubbenhorst, Elsa Faulders, Elisabeth M. Schuth, Kate Loranger, Jingwen Zhang, Carly Bess Scalise, Adam ElNaggar, Youbao Sha, Stephanie A. Felker, Jeffrey Weitzel, Staci Kallish, Marylyn D. Ritchie, Penn Medicine BioBank, Katherine L. Nathanson, Theodore G. Drivas

    Published 2025-04-01
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