Exome Sequencing

Displaying 1 - 5 of 5CSV
Yalcouyé, A., Schrauwen, I., Traoré, O., Bamba, S., Aboagye, E. T., Acharya, A., Bharadwaj, T., Latanich, R., Esoh, K., Fortes-Lima, C. A., de Kock, C., Jonas, M., Maiga, A. dit B., Cissé, C. A. K., Sangaré, M. A., Guinto, C. O., Landouré, G., Leal, S. M., & Wonkam, A. (2025). Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali. Human Genetics and Genomics Advances, 6(1), 100391. https://doi.org/10.1016/j.xhgg.2024.100391
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Reilly, K., Sonner, S., McCay, N., Rolnik, D. L., Casey, F., Seale, A. N., Watson, C. J., Kan, A., Lai, T. H. T., Chung, B. H. Y., Diderich, K. E. M., Srebniak, M. I., Dempsey, E., Drury, S., Giordano, J., Wapner, R., Kilby, M. D., Chitty, L. S., & Mone, F. (2024). The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta‐analysis. Prenatal Diagnosis, 44(6–7), 821–831. Portico. https://doi.org/10.1002/pd.6581
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Ma, B. M., Elefant, N., Tedesco, M., Bogyo, K., Vena, N., Murthy, S. K., Bheda, S. A., Yang, S., Tomar, N., Zhang, J. Y., Husain, S. A., Mohan, S., Kiryluk, K., Rasouly, H. M., & Gharavi, A. G. (2024). Developing a genetic testing panel for evaluation of morbidities in kidney transplant recipients. Kidney International, 106(1), 115–125. https://doi.org/10.1016/j.kint.2024.02.021
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Mustafa, H. J., Barbera, J. P., Sambatur, E. V., Pagani, G., Yaron, Y., Baptiste, C. D., Wapner, R. J., Brewer, C. J., & Khalil, A. (2024). Diagnostic yield of exome sequencing in prenatal agenesis of corpus callosum: systematic review and meta‐analysis. Ultrasound in Obstetrics & Gynecology, 63(3), 312–320. Portico. https://doi.org/10.1002/uog.27440
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Erjavec, S. O., Gelfman, S., Abdelaziz, A. R., Lee, E. Y., Monga, I., Alkelai, A., Ionita-Laza, I., Petukhova, L., & Christiano, A. M. (2022). Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82. Nature Communications, 13(1). https://doi.org/10.1038/s41467-022-28343-3
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