Showing 1 - 2 results of 2 for search 'Hannah Dziadzio', query time: 0.02s Refine Results
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    P220: The ClinGen Variant Curation Interface (VCI) to support direct submission and tracking of submissions to ClinVar

    P220: The ClinGen Variant Curation Interface (VCI) to support direct submission and tracking of submissions to ClinVar by Christine Preston, Bryan Wulf, Liam Mulhall, Gloria Cheung, Mark Mandell, Rachel Shapira, Marina DiStefano, Gabriella Sanchez, Pamela Robertson, Justyne Ross, Hannah Dziadzio, Neethu Shah, Larry Babb, Clarissa Klein, Deborah Ritter, Aleksandar Milosavljevic, Matt Wright, Sharon Plon, Teri Klein

    Published 2025-01-01
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  2. 2
    Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels

    Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels by Emma H. Wilcox, Ryan F. Webb, Kezang C. Tshering, Madeline Y. Hughes, Hélène Cavé, Marina T. DiStefano, Hannah Dziadzio, Kate Garber, Bruce D. Gelb, Karen W. Gripp, Shoji Ichikawa, Jennifer A. Lee, Hannah McCurry, Marco Tartaglia, Bradley Williams, Martin Zenker, Lisa M. Vincent, Heather Mason-Suares, Bradley Williams, Bruce Gelb, Hannah Dziadzio, Heather Mason-Suares, Hélène Cavé, Jennifer Lee, Karen Gripp, Kat Lafferty, Kezang Tshering, Lisa Vincent, Luis Enrique Gomez, Marco Tartaglia, Marina DiStefano, Martin Zenker, Reza Ahmadian, Ryan Webb, Shoji Ichikawa

    Published 2025-01-01
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