Search Results - Lucas Bronicki
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ALU transposition induces familial hypertrophic cardiomyopathy by Landry Nfonsam, Lijia Huang, Nancy Carson, Jean McGowan‐Jordan, Melanie Beaulieu Bergeron, Sharan Goobie, Susan Conacher, David McCarty, Lee Benson, Stacy Hewson, Laura Zahavich, Elizabeth Sinclair‐Bourque, Amanda Smith, Ryan Potter, Mahdi Ghani, Lucas Bronicki, Olga Jarinova
Published in Molecular Genetics & Genomic Medicine (2020-01-01)Get full text
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P150: ClinGen hereditary cardiovascular disease gene curation expert panel: reappraisal of the validity of hypertrophic cardiomyopathy genes* by 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
Published in Genetics in Medicine Open (2024-01-01)Get full text
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Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy by Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus, Svetlana Gorokhova, April Kennedy, Zhiyv Niu, Mridul Johari, Alassane Baneye Maiga, Kelly Macalalad, Amanda R. Clause, Jacques S. Beckmann, Lucas Bronicki, Sandra T. Cooper, Vijay S. Ganesh, Peter B. Kang, Akanchha Kesari, Monkol Lek, Jennifer Levy, Laura Rufibach, Marco Savarese, Melissa J. Spencer, Volker Straub, Giorgio Tasca, Conrad C. Weihl
Published in Annals of Clinical and Translational Neurology (2024-09-01)Get full text
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Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac condition... by Katherine S. Josephs, Angharad M. Roberts, Pantazis Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D. Roberts, Melanie Care, Wojciech Zareba, Arnon Adler, Amy C. Sturm, Rafik Tadros, Valeria Novelli, Emma Owens, Lucas Bronicki, Olga Jarinova, Bert Callewaert, Stacey Peters, Tom Lumbers, Elizabeth Jordan, Babken Asatryan, Neesha Krishnan, Ray E. Hershberger, C. Anwar A. Chahal, Andrew P. Landstrom, Cynthia James, Elizabeth M. McNally, Daniel P. Judge, Peter van Tintelen, Arthur Wilde, Michael Gollob, Jodie Ingles, James S. Ware
Published in Genome Medicine (2023-10-01)Get full text
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