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Berger, S., Mito, Y., & Mehta, L. (2024). P200: A novel 13q31.3q32.3 deletion identified on follow up of an inconclusive prenatal cell-Free DNA screening for trisomy 13. Genetics in Medicine Open, 2, 101097. https://doi.org/10.1016/j.gimo.2024.101097

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Bi, X., Iglesias, A., Levy, B., & Aggarwal, V. (2024). P702: Mosaic monosomy/partial trisomy 13 resulting from an unstable ring chromosome in a child with multiple congenital anomalies and developmental delay. Genetics in Medicine Open, 2, 101606. https://doi.org/10.1016/j.gimo.2024.101606

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Iqbal, M. A., Broeckel, U., Levy, B., Skinner, S., Sahajpal, N. S., Rodriguez, V., Stence, A., Awayda, K., Scharer, G., Skinner, C., Stevenson, R., Bossler, A., Nagy, P. L., & Kolhe, R. (2023). Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases. The Journal of Molecular Diagnostics, 25(3), 175–188. https://doi.org/10.1016/j.jmoldx.2022.12.005

Timmins, G. T., Wynn, J., Saami, A. M., Espinal, A., & Chung, W. K. (2022). Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing. Public Health Genomics, 25(5–6), 185–192. Portico. https://doi.org/10.1159/000526382

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Wu, C.-H. W., Lim, T. Y., Wang, C., Seltzsam, S., Zheng, B., Schierbaum, L., Schneider, S., Mann, N., Connaughton, D. M., Nakayama, M., van der Ven, A. T., Dai, R., Kolvenbach, C. M., Kause, F., Ottlewski, I., Stajic, N., Soliman, N. A., Kari, J. A., El Desoky, S., … Hildebrandt, F. (2022). Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract. European Urology Open Science, 44, 106–112. https://doi.org/10.1016/j.euros.2022.08.004

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Lee, W., de Prisco, N., & Gennarino, V. A. (2022). Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene. STAR Protocols, 3(1), 101150. https://doi.org/10.1016/j.xpro.2022.101150

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