Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders von Yang, Yaping, Muzny, Donna M, Reid, Jeffrey G, Bainbridge, Matthew N, Willis, Alecia, Ward, Patricia A, Braxton, Alicia, Beuten, Joke, Xia, Fan, Niu, Zhiyv, Hardison, Matthew, Person, Richard, Bekheirnia, Mir Reza, Leduc, Magalie S, Kirby, Amelia, Pham, Peter, Scull, Jennifer, Wang, Min, Ding, Yan, Plon, Sharon E, Lupski, James R, Beaudet, Arthur L, Gibbs, Richard A, Eng, Christine M

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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing von Yang, Yaping, Muzny, Donna M, Xia, Fan, Niu, Zhiyv, Person, Richard, Ding, Yan, Ward, Patricia, Braxton, Alicia, Wang, Min, Buhay, Christian, Veeraraghavan, Narayanan, Hawes, Alicia, Chiang, Theodore, Leduc, Magalie, Beuten, Joke, Zhang, Jing, He, Weimin, Scull, Jennifer, Willis, Alecia, Landsverk, Megan, Craigen, William J, Bekheirnia, Mir Reza, Stray-Pedersen, Asbjorg, Liu, Pengfei, Wen, Shu, Alcaraz, Wendy, Cui, Hong, Walkiewicz, Magdalena, Reid, Jeffrey, Bainbridge, Matthew, Patel, Ankita, Boerwinkle, Eric, Beaudet, Arthur L, Lupski, James R, Plon, Sharon E, Gibbs, Richard A, Eng, Christine M

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MicroRNA-21 regulates the self-renewal of mouse spermatogonial stem cells von Niu, Zhiyv, Goodyear, Shaun M, Rao, Shilpa, Wu, Xin, Tobias, John W, Avarbock, Mary R, Brinster, Ralph L

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Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) von Peña, Loren D.M., Burrage, Lindsay C., Enns, Gregory M., Esplin, Edward D., Harding, Cary, Mendell, Jerry R., Niu, Zhiyv (Neal), Scharfe, Curt, Yu, Timothy, Koeberl, Dwight D.

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P688: A pilot mentorship program for the career advancement of underrepresented individuals in laboratory genomics at Mayo Clinic von Koleilat, Alaa, Hasadsri, Linda, Rumilla, Kandelaria, Niu, Zhiyv

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Vosoritide approved for treatment of linear growth in pediatric patients with achondroplasia: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG... von Poskanzer, Sheri A., Peña, Loren D.M., Niu, Zhiyv

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Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21 von Martinez‐Thompson, Jennifer M., Niu, Zhiyv, Tracy, Jennifer A., Moore, Steven A., Swenson, Andrea, Wieben, Eric D., Milone, Margherita

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Recurrent Genomic Alterations in Soft Tissue Perineuriomas von Carter, Jodi M, Wu, Yanhong, Blessing, Melissa M, Folpe, Andrew L, Thorland, Erik C, Spinner, Robert J, Jentoft, Mark E, Wang, Chen, Baheti, Saurabh, Niu, Zhiyv, Mauermann, Michelle L, Klein, Christopher J

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P897: DEIJ advancement in the genomics laboratory through GC-driven advocacy: A process improvement review of sex/gender verification SOPs von Essendrup, Anna, Brunker, Sarah, Ellingson, Marissa, Bortnova, Jessica, Salsbery, Kyle, Hasadsri, Linda, Niu, Zhiyv

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P742: Assessing stability of frozen samples for Bionano optical single DNA mapping for diagnosis of facioscapulohumeral muscular dystrophy type 1 von Cook, Sara, Lauer, Emily, Lundquist, Patrick, Hasadsri, Linda, Milone, Margherita, Niu, Zhiyv

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P625: Utility of highest pathogenic variant frequency approach for application of BA1/BS1 ACMG criteria to reduce variants of uncertain significance von Salsbery, Kyle, Oglesbee, Devin, Selner, Elizabeth, Pickart, Angela, Niu, Zhiyv, Lauer, Emily, Peck, Dawn

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders von YAPING YANG, MUZNY, Donna M, HARDISON, Matthew, PERSON, Richard, MIR REZA BEKHEIRNIA, LEDUC, Magalie S, KIRBY, Amelia, PHAM, Peter, SCULL, Jennifer, MIN WANG, YAN DING, PLON, Sharon E, REID, Jeffrey G, LUPSKI, James R, BEAUDET, Arthur L, GIBBS, Richard A, ENG, Christine M, BAINBRIDGE, Matthew N, WILLIS, Alecia, WARD, Patricia A, BRAXTON, Alicia, BEUTEN, Joke, FAN XIA, NIU, Zhiyv

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Clinical trials in Charcot-Marie-Tooth disorders: a retrospective and preclinical assessment von Nair, Malavika A., Niu, Zhiyv, Madigan, Nicholas N., Shin, Alexander Y., Brault, Jeffrey S., Staff, Nathan P., Klein, Christopher J.

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Sox17 Is Essential for the Specification of Cardiac Mesoderm in Embryonic Stem Cells von Liu, Yu, Asakura, Masanori, Inoue, Hironori, Nakamura, Teruya, Sano, Motoaki, Niu, Zhiyv, Chen, Michelle, Schwartz, Robert J., Schneider, Michael D.

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Serum response factor orchestrates nascent sarcomerogenesis and silences the biomineralization gene program in the heart von Niu, Zhiyv, Iyer, Dinakar, Conway, Simon J, Martin, James F, Ivey, Kathryn, Srivastava, Deepak, Nordheim, Alfred, Schwartz, Robert J

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Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features von Niu, Zhiyv, Pontifex, Carly Sabine, Berini, Sarah, Hamilton, Leslie E, Naddaf, Elie, Wieben, Eric, Aleff, Ross A, Martens, Kristina, Gruber, Angela, Engel, Andrew G, Pfeffer, Gerald, Milone, Margherita

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P086: Mosaic Li-Fraumeni syndrome identified in patient with a previously presumed germline variant following preimplantation genetic testing: A case report von Urban, Rhianna, Holdren, Megan, Hoenig, Megan, Rust, Laura, Wick, Myra, Ferber, Matthew, Niu, Zhiyv, Gupta, Sounak, Shen, Wei

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Valosin-containing-protein pathogenic variant p.R487H in Parkinson’s disease von Piat, Capucine, Ross, Owen A., Springer, Wolfdieter, Benarroch, Eduardo E., Layne Moore, J., Lauer, Emily, Niu, Zhiyv, Savica, Rodolfo

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Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy von Schmitt, Rebecca E., Smith, Douglas Y., Cho, Dong Seong, Kirkeby, Lindsey A., Resch, Zachary T., Liewluck, Teerin, Niu, Zhiyv, Milone, Margherita, Doles, Jason D.

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P004: Urine polyols for diagnosis of sorbitol dehydrogenase (SORD) deficiency-related peripheral neuropathy von White, Amy, Bontrager, Jordan, Laxen, William, Loken, Perry, Grider, Tiffany, Alawneh, Josef, Carson, Vincent, Lauer, Emily, Pickart, Angela, Niu, Zhiyv, Oglesbee, Devin, Gavrilov, Dimitar, Tortorelli, Silvia, Hall, Patricia, Matern, Dietrich, Shy, Michael, Herrmann, David, Schultz, Matthew

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