Mosaic Copy Number Variation in a Patient with Cerebral and Pulmonary Arteriovenous Malformations and Recurrent Epistaxis von Cyrus, Sharri S, Kluge, Michelle L, Marcou, Cherisse A, Thorland, Erik C, Iyer, Vivek N, Baudhuin, Linnea M

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P189: Drosophila modeling reclassifies VoUS in EED and PRC2 members: Relevance for clinical interpretation and rare variant burden testing in populations von Gibson, William, Cyrus, Sharri, Giró, Sònia Medina, Lian, Tianshun, Allan, Douglas

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DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes von Choufani, Sanaa, Gibson, William T., Turinsky, Andrei L., Chung, Brian H.Y., Wang, Tianren, Garg, Kopal, Vitriolo, Alessandro, Cohen, Ana S.A., Cyrus, Sharri, Goodman, Sarah, Chater-Diehl, Eric, Brzezinski, Jack, Brudno, Michael, Ming, Luk Ho, White, Susan M., Lynch, Sally Ann, Clericuzio, Carol, Temple, I. Karen, Flinter, Frances, McConnell, Vivienne, Cushing, Tom, Bird, Lynne M., Splitt, Miranda, Kerr, Bronwyn, Scherer, Stephen W., Machado, Jerry, Imagawa, Eri, Okamoto, Nobuhiko, Matsumoto, Naomichi, Testa, Guiseppe, Iascone, Maria, Tenconi, Romano, Caluseriu, Oana, Mendoza-Londono, Roberto, Chitayat, David, Cytrynbaum, Cheryl, Tatton-Brown, Katrina, Weksberg, Rosanna

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