Developmental Disabilities

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Barua, S., Murty, V. V., Iglesias, A., & Liao, J. (2025). A Novel EP300 Variant in an African American Girl With Global Developmental Delay and Leukemia. Molecular Genetics & Genomic Medicine, 13(6). Portico. https://doi.org/10.1002/mgg3.70102
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Lessel, I., Baresic, A., Chinn, I. K., May, J., Goenka, A., Chandler, K. E., Posey, J. E., Afenjar, A., Averdunk, L., Bedeschi, M. F., Besnard, T., Brager, R., Brick, L., Brugger, M., Brunet, T., Byrne, S., Calle-Martín, O. de la, Capra, V., Cardenas, P., … Lessel, D. (2025). DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2024.12.012
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Ma, M., Ganapathi, M., Zheng, Y., Tan, K.-L., Kanca, O., Bove, K. E., Quintanilla, N., Sag, S. O., Temel, S. G., LeDuc, C. A., McPartland, A. J., Pereira, E. M., Shen, Y., Hagen, J., Thomas, C. P., Nguyen Galván, N. T., Pan, X., Lu, S., Rosenfeld, J. A., … Bellen, H. J. (2024). Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genetics in Medicine, 26(7), 101125. https://doi.org/10.1016/j.gim.2024.101125
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