Resultats de la cerca - Bess Wayburn

Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing per Jennifer Herrera-Mullar, Carolyn Horton, Amybeth Weaver, Meghan Towne, Jennifer M. Huang, Grace E. VanNoy, Steven M. Harrison, Bess Wayburn

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P150: ClinGen hereditary cardiovascular disease gene curation expert panel: reappraisal of the validity of hypertrophic cardiomyopathy genes* per Amber Waddell, Sophie Hespe, Babken Asatryan, Emma Owens, Courtney Thaxton, Mhy-Lanie Adduru, Kailyn Anderson, Emily Brown, Lily Hoffman-Andrews, Elizabeth Jordan, Megan Mayers, Stacey Peters, Fergus Stafford, Richard Bagnall, Lucas Bronicki, Bert Callewaert, C. Anwar Chahal, Cynthia James, Olga Jarinova, Andrew Landstrom, Elizabeth McNally, Brittney Murray, Laura Muiño-Mosquera, Victoria Parikh, Chloe Reuter, Roddy Walsh, Bess Wayburn, James Ware, Jodie Ingles

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P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition* per Marina DiStefano, Fowzan Alkuraya, Joanna Amberger, Christina Austin-Tse, Ola Austine, Marie Balzotti, Jonathan Berg, Elspeth Bruford, Alicia Byrne, Elena Cibrian-Uhalte, Alison Coffey, Helen Firth, Ada Hamosh, Sarah Hunt, Teri Klein, Catherine Kurtz, Sarah Leigh, Ivone Leong, Caterina Lucano, Sateesh Maddirevula, Audrey O'Neill, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Julie Taylor, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, James Ware, Bess Wayburn, Phillip Weller, Heidi Rehm

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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships per Eleanor C. Broeren, Vanessa N. Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie B. Balzotti, Jonathan S. Berg, Krista Bluske, B. Monica Bowen, Matthew P. Brown, Amanda Buchanan, Brendan T. Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda R. Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa A. Elnagheeb, Amanda N. Girod, Himanshu Goel, Katie L. Golden-Grant, Thuong Ha, Ada Hamosh, Jennifer M. Huang, Madeline Y. Hughes, Saumya S. Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, Sarah E. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah R. McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma H. Owens, Elizabeth E. Palmer, Brooke C. Palus, Mayher J. Patel, Revathi Rajkumar, Julie C. Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah A. Schmidt, Zornitza Stark, Samuel P. Strom, Julie P. Taylor, Courtney Thaxton, Devon L. Thrush, Sabrina Toro, Kezang C. Tshering, Nicole A. Vasilevsky, Bess Wayburn, Ryan F. Webb, Anne O’Donnell-Luria, Alison J. Coffey

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