Showing 1 - 4 results of 4 for search 'Ramakrishnan Rajagopalan', query time: 0.02s Refine Results
  1. 1
    P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients

    P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients by Matt Aruta, Jard Knoblauch, Tanaya Jadhav, Emily Xiong, Yue Xing, Laura Conlin, Ramakrishnan Rajagopalan

    Published 2024-01-01
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  2. 2
    P830: Detection and quantification of multiple deletions in mitochondria and heteroplasmy levels using PacBio long read sequencing

    P830: Detection and quantification of multiple deletions in mitochondria and heteroplasmy levels using PacBio long read sequencing by Tanaya Jadhav, Avery Zucco, Matt Aruta, Matthew Dulik, Laura Conlin, Ramakrishnan Rajagopalan, Jing Wang

    Published 2024-01-01
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  3. 3
    Kagami Ogata syndrome: a small deletion refines critical region for imprinting

    Kagami Ogata syndrome: a small deletion refines critical region for imprinting by Gonench Kilich, Kelly Hassey, Edward M. Behrens, Marni Falk, Adeline Vanderver, Daniel J. Rader, Patrick J. Cahill, Anna Raper, Zhe Zhang, Dawn Westerfer, Tanaya Jadhav, Laura Conlin, Kosuke Izumi, Ramakrishnan Rajagopalan, Kathleen E. Sullivan, UDN Consortium

    Published 2024-01-01
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  4. 4
    P532: Development, implementation, and preliminary results of rapid targeted genomic analysis in the newborn period

    P532: Development, implementation, and preliminary results of rapid targeted genomic analysis in the newborn period by Emma Bedoukian, Sara Reichert, Elizabeth DeChene, Alexandra Heck, Jennifer Hershey, Morgan McManus, Michelle Marchese, Surabhi Mulchandani, Francis Jeshira Reynoso Santos, K. Taylor Wild, Kathleen Wood, Laura Conlin, Matthew Dulik, Ramakrishnan Rajagopalan, Nancy Spinner, Ian Krantz

    Published 2024-01-01
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