McCormick, Elizabeth

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., et al. (2019) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features

Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., et al. (2024) · Journal of Clinical Investigation

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

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