P484: The recurrent 15q11.2 deletion: A single laboratory experience by John Herriges, Jennifer Roberts, Elena Repnikova, Lei Zhang

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26: A novel, atypical ETV6::RUNX1 fusion formed by exonic insertion of ETV6 into RUNX1 in a pediatric patient with precursor B-cell acute lymphoblastic leukemia by Lei Zhang, John Herriges, Lisa Lansdon, Midhat Farooqi, Elena Repnikova

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P629: A novel 198 kb partial duplication in KMT2C: Report of a patient with features of Kleefstra syndrome-2 and adrenal ganglioneuroblastoma by Rishabh Gaur, John Herriges, Isabelle Thiffault, Julie Joyce, Eric Rush, Elena Repnikova

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Hyperinsulinemic Hypoglycemia and Growth Hormone Deficiency Secondary to 20p11 Deletion by Erica Wee, John Herriges, Kavitha Dileepan, Sarah L. Tsai, Joseph T. Alaimo, Emily Paprocki

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P594: A 3.9 Mb triplication within 11p14.1p13 containing ELP4 and PAX6 in a patient with congenital nystagmus and mild speech delay by Lei Zhang, Janda Jenkins, Jennifer Roberts, Elena Repnikova, Shivarajan Amudhavalli, Marla Kennard, Mary Champion, John Herriges

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P457: A case of hexasomy 15q due to a tricentric supernumerary chromosome 15 by Emily Farrow, Laura Cross, Bonnie Sullivan, Keely Fitzgerald, Ahmed Abdelmoity, Joseph Alaimo, Elena Repnikova, John Herriges, Lei Zhang

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P551: GATEways to improved test utilization: Opening doors and building bridges by Lee Zellmer, Mary Rindler, Maggie Humphrey, Jennifer Roberts, Eric Rush, JD Nolen, John Herriges, Ara Hall, Shivarajan Amudhavalli, Carol Saunders

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O10: Exome-based integrated CNV/SNV analysis as a superior first line test: Do you know what you’re missing? by Carol Saunders, Joseph Alaimo, Florencia Del Viso, Victoria Paolillo, Ana S.A. Cohen, John Herriges, Greg Marsh, Isabelle Thiffault, Emily Farrow

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P485: Evaluating novel dosage sensitivity predictors for inclusion in the classification of recurrent copy number variants by John Herriges, Cassandra Runke, Zoe Lewis, Lucilla Pizzo, Bradley Coe, Laura Conlin, Benjamin Hilton, Brynn Levy, Andrea Vaags, Shulin Zhang, Christa Martin, Erica Andersen

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P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)* by Emily Spector, Erica Andersen, John Herriges, Anne Higgins, Brynn Levy, Ludmila Matyakhina, Christa Martin, Daniel Pineda-Alvarez, Lina Shao, Shashirekha Shetty, Andrea Vaags, Erik Thorland, Sung-Hae Kang, Chelsea Lowther, Dominic McMullan, Erin Riggs

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19: Dosage Sensitivity Curation of Recurrent CNVs: A Novel Scoring Metric to Assist Clinical CNV Interpretation by John Herriges, Zoe K. Lewis, Bradley Coe, Cassandra K. Runke, Rachel D. Burnside, Laura K. Conlin, Benjamin A. Hilton, Nicole Hoppman, Vaidehi Jobanputra, Brynn Levy, Lucilla Pizzo, Erin Rooney Riggs, Andrea K. Vaags, Shulin Zhang, Christa Lese Martin, Erica F. Andersen

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