Lesmana, H., Kim, S. Y., Corado, A. M., & Poskanzer, S. A. (2024). Casgevy (exagamglogene autotemcel) and Lyfgenia (lovotibeglogene autotemcel) for individuals 12 years and older with sickle cell disease (SCD) and recurrent vaso-occlusive crises (VOC): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine Open, 2, 101875. https://doi.org/10.1016/j.gimo.2024.101875

Altemura, C., Diaz Caro, D., Fife, N., Giacomazzi, V., & Sumarroca, M. (2024). The impact of English-centric training for multilingual genetic counseling practice: A commentary. Genetics in Medicine Open, 2, 101872. https://doi.org/10.1016/j.gimo.2024.101872

Diaz Caro, D., & Simone, L. (2024). The role of the Latin American Professional Society of Genetic Counseling (SPLAGen): Advancing genetic counseling in Latin America. Genetics in Medicine Open, 2, 101870. https://doi.org/10.1016/j.gimo.2024.101870

Kowanda, M., Smith, R. S., Lundy, J., Kentros, C., Kleinman, E., Walsh, L. K., Schratt, G., Taylor, C. M., & Chung, W. K. (2024). Improvement of variant reclassification in genetic neurodevelopmental conditions. Genetics in Medicine Open, 2, 101845. https://doi.org/10.1016/j.gimo.2024.101845

Somerville, C., Erkut, E., Schwartz, M., Chen, X., Manshaei, R., Ding, Q., Diderich, K., Herzig, L., Dingmann, B., Quelin, C., Pingault, V., Dubourg, C., Salgado, J. R., Sousa, S., Koboldt, D., Gosselin, R., McBride, K., Arvio, M., Järvelä, I., … Jobling, R. (2024). O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects. Genetics in Medicine Open, 2, 101469. https://doi.org/10.1016/j.gimo.2024.101469

Wapner, R., Norton, M., Stosic, M., & Edwards, J. (2024). O08: Basic training in reproductive genetics: Enhancing genetic knowledge of subspecialists during fellowship. Genetics in Medicine Open, 2, 101661. https://doi.org/10.1016/j.gimo.2024.101661

Chung, W., Ziegler, A., Koval-Burt, C., Kay, D., Suchy, S., Bergtrup, A., Langley, K., Amendola, L., Boyd, B., Bradley, J., Brandt, T., Cohen, L., Coffey, A., Devaney, J., Dygulska, B., Friedman, B., Fuleihan, R., Gyimah, A., Hernan, R., … Caggana, M. (2024). O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city. Genetics in Medicine Open, 2, 101369. https://doi.org/10.1016/j.gimo.2024.101369

Mohan, S., Geck, R., Fayer, S., Donnelly, R., Relling, M., Vulliamy, T., Caudle, K., Waddell, A., Kendall, E., Domingo, G., Minucci, A., Ley, B., Chu, C., Haidar, C., McLeod, H., Prchal, J., Sirdah, M., Aggarwal, V., Jiang, W., … Stergachis, A. (2024). P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*. Genetics in Medicine Open, 2, 100885. https://doi.org/10.1016/j.gimo.2024.100885

Kowanda, M., Calakos, K., Snyder, L. G., Kentros, C., Bain, J., Srivastava, S., Sands, T., Schratt, G., Taylor, C., & Chung, W. (2024). P152: Seizure severity across neurogenetic conditions in Simons Searchlight*. Genetics in Medicine Open, 2, 101049. https://doi.org/10.1016/j.gimo.2024.101049

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

Mehta, L., Begun, Y., Sanyoura, M., & Stanley, C. (2024). P242: Tissue specific pathogenic NIPBL variant causing Cornelia de Lange syndrome: A call to clinicians. Genetics in Medicine Open, 2, 101138. https://doi.org/10.1016/j.gimo.2024.101138

Spector, E., Andersen, E., Herriges, J., Higgins, A., Levy, B., Matyakhina, L., Martin, C., Pineda-Alvarez, D., Shao, L., Shetty, S., Vaags, A., Thorland, E., Kang, S.-H., Lowther, C., McMullan, D., & Riggs, E. (2024). P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)*. Genetics in Medicine Open, 2, 101482. https://doi.org/10.1016/j.gimo.2024.101482

Kowanda, M., Smith, R. S., Lundy, J., Kentros, C., Kleinman, E., Walsh, L. K., Schratt, G., Taylor, C., & Chung, W. (2024). P612: Improvement of variant reclassification in genetic neurodevelopmental conditions: Simons Searchlight research registry. Genetics in Medicine Open, 2, 101518. https://doi.org/10.1016/j.gimo.2024.101518

Zhuo, X., Aggarwal, V., & Liao, J. (2024). P641: Application of AlphaMissense prediction to pathogenicity classification of missense variants from clinical exome sequencing. Genetics in Medicine Open, 2, 101547. https://doi.org/10.1016/j.gimo.2024.101547

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

Lippa, N., Bier, L., Mulhern, M., Hemati, P., May, H., Florido, M., Kushary, S. T., Vena, N., & Revah-Politi, A. (2024). P834: A genetic counselors watchlist: Framework for gene discovery. Genetics in Medicine Open, 2, 101745. https://doi.org/10.1016/j.gimo.2024.101745

Nicoletti, P., Zafer, S., Matok, L., Irron, I., Patrick, M., Haklai, R., Evangelista, J. E., Marino, G. B., Ma’ayan, A., Sewda, A., Holmes, G., Britton, S. R., Lee, W. J., Wu, M., Ru, Y., Arnaud, E., Botto, L., Brody, L. C., Byren, J. C., … Peter, I. (2024). Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits. Genetics in Medicine Open, 2, 101851. https://doi.org/10.1016/j.gimo.2024.101851

Deignan, J. L., Aggarwal, V., Bale, A. E., Bellissimo, D. B., Booker, J. K., Cao, Y., Crooks, K. R., Deak, K. L., Del Gaudio, D., Funke, B., Hoppman, N. L., Horner, V., Hufnagel, R. B., Jackson-Cook, C., Koduru, P., Leung, M. L., Li, S., Liu, P., Luo, M., … Williams, E. S. (2024). The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors. Genetics in Medicine Open, 2, 101820. https://doi.org/10.1016/j.gimo.2024.101820

Selvam, P., Mares Beltrán, C. F., Sen, K., & Morales Corado, A. (2024). Trofinetide approved for children and adults with Rett syndrome (RTT): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine Open, 2, 101856. https://doi.org/10.1016/j.gimo.2024.101856