The DExD/H-box ATPase Prp2p destabilizes and proofreads the catalytic RNA core of the spliceosome von Wlodaver, Alissa M, Staley, Jonathan P

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P454: Investigating the efficacy of targeted NGS panels with rapid TAT for pediatric patients with narrow differential diagnoses von Drackley, Andy, Rathbun, Pamela, Ing, Alexander, Wlodaver, Alissa, Baker, Joshua, Hickey, Rachel, Peter, Merlene, McRae, Anne, Jurgensmeyer, Sarah, Lee Yap, Kai, Prada, Carlos

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Sequencing of lariat termini in S. cerevisiae reveals 5' splice sites, branch points, and novel splicing events von Qin, Daoming, Huang, Lei, Wlodaver, Alissa, Andrade, Jorge, Staley, Jonathan P

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OP034: Evaluation of the 2019 ACMG-ClinGen guidelines for interpretation of copy-number variants with borderline classifications at an academic clinical diagnostics laboratory von Drackley, Andy, Brew, Casey, Wlodaver, Alissa, Spencer, Sara, Leuer, Katrin Carlson, Rathbun, Pamela, Wieneke, Xuwen, Lee Yap, Kai, Ing, Alexander

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eP363: A review of characteristic features identifying balanced chromosomal translocations with increased potential for 3:1 meiotic segregation von Ing, Alexander, Charrow, Joel, Drackley, Andrew, Rathbun, Pamela, Wieneke, Xuwen, Wlodaver, Alissa, Lee Yap, Kai, Leuer, Katrin

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Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics–Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Cl... von Drackley, Andy, Brew, Casey, Wlodaver, Alissa, Spencer, Sara, Leuer, Katrin, Rathbun, Pamela, Charrow, Joel, Wieneke, Xuwen, Yap, Kai Lee, Ing, Alexander

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Detection of a cryptic inverted duplication in the RAB27A 5’UTR following non-diagnostic WES in two cases of atypical Griscelli syndrome von Wlodaver, Alissa, Caparelli, Edward, Turner, Rebekah, Silva, Mercedes, Klein-Gitelman, Marisa, Khojah, Amer, Rathbun, Pamela, Yap, Kai Lee

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eP431 - Detection of a cryptic inverted duplication in the RAB27A 5’UTR following non-diagnostic WES in two cases of atypical Griscelli syndrome von Wlodaver, Alissa, Caparelli, Edward, Turner, Rebekah, Silva, Mercedes, Klein-Gitelman, Marisa, Khojah, Amer, Rathbun, Pamela, Yap, Kai Lee

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Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia von Ing, Alexander, Wlodaver, Alissa, Kirschmann, Dawn, Toledo, Erica, McCabe, Christopher, Kadri, Sabah, McIntyre, Mary Kate, Salazar, Joanne, Firestein, Kristina, Charrow, Joel, Sanders, Victoria, Laguna, Theresa, Yap, Kai Lee

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