Hasil Pencarian - Mark Kiel

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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

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

    Diterbitkan 2024-01-01
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  2. 2
    P170: An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration

    P170: An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration oleh Mark Kiel, Amina Kozaric, Moriel Singer-Berk, Jordan Wood, Emily Evangelista, Amanda Hope, Leena Panwala, Stephanie Heinrich, Samantha Baxter

    Diterbitkan 2024-01-01
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  3. 3
    P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database

    P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database oleh Vanessa Rangel Miller, Heather Richbourg, Jerry Vockley, Omid Japalaghi, Moeenaldeen AlSayed, Mark Kiel, Stephanie Monteleone, Peter Baker, II, Sean Daugherty, Aneal Khan, Lawrence Korngut, Deborah Marsden, Ana Morales, Nicole Miller

    Diterbitkan 2024-01-01
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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

    O33: Comprehensive identification of gene-disease relationships across the clinical exome through systematic literature review and parallelized evidence curation oleh 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

    Diterbitkan 2024-01-01
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  5. 5
    P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders*

    P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders* oleh Jennifer Schleit, Meredith Wright, Lauren Olsen, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo del Angel, Katarzyna (Kasia) Ellsworth, Annette Feigenbaum, Erwin Frise, Lucia Guidugli, Kevin Hall, Christian Hansen, Charlotte Hobbs, Mark Kiel, Chad Krilow, Chris Kunard, YongHyun Kwon, Rao Madhavrao, Shyamal Mehtalia, William Mowrey, Jennie Le, Jeremy Leipzig, Yupu Liang, Rebecca Mardach, Danny Oh, Mallory Owen, Liana Protopsaltis, Erica Sanford Kobayashi, Gunter Scharer, Brandon Schultz, Seth Shelnutt, Laurie Smith, Duke Tran, Lucita Van Der Kraan, Kristen Wigby, Mary Willis, Aaron Wolen, Mark Yandell, Thomas Defay, Stephen Kingsmore

    Diterbitkan 2024-01-01
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