Search Results - Natalie Syverud

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  1. 1

    P250: Clarification of variant reporting for homologous genes resolved through systematic literature review: ACMG SF genes CALM1, CALM2, and CALM3 by Kathryn Curry, Natalie Syverud, Anna McGill, Jeffrey Bissonnette, Jane Beckwell, Elizabeth Wiley, Mark Kiel

    Published in Genetics in Medicine Open (2024-01-01)
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  2. 2

    P221: Systematic literature review of GLA variants uncovers additional Fabry Disease-causing variants by Jeffrey Bissonnette, Biliana Veleva-Rotse, Joseph Giuliano, Rhea Kerawala, Derek Timm, Natalie Syverud, Amina Kozaric, Mark Kiel

    Published in Genetics in Medicine Open (2025-01-01)
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  3. 3

    An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant by Eric L. Bell, Jennifer K. Truong, Youhwa Jo, Adrianne Kolpak, Lauren Chunn, Natalie Syverud, Melida Mahinic, Jessica R. Durrant, Eitan Hoch, Bharat Reddy, Patrick Stoiber, John P. Miller, Yong Ren, Jonathan Moore, Robert O. Hughes, Alastair S. Garfield

    Published in Journal of Lipid Research (2025-07-01)
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  4. 4

    O33: Comprehensive identification of gene-disease relationships across the clinical exome through systematic literature review and parallelized evidence curation by Mark Kiel, Jeffrey Bissonnette, Emir Hrelja, Mirela Tica-Spahic, Menara Arapcic-Granic, Elma Brkic, Selma Cajo, Ilma Cehic, Azra Cickusic, Anida Corbic, Mirnesa Cviko-Nalbantic, Ismet Duranovic, Senada Dzibric, Jessica Farmer, Selma Fatic, Almina Gajic, Lamija Hafizovic, Dino Hasanagic, Aldina Haskovic, Adna Karic, Rhea Kerawala, Elma Lakota, Zerina Lepara-Dervisevic, Haris Lokvancic, Lejla Mujkic, Selma Muratovic, Belma Mutapcic, Anita Plecas, Selma Selimovic, Natalie Syverud, Ena Toman, Amila Zoranovic

    Published in Genetics in Medicine Open (2024-01-01)
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