| 2020 |
Johnson, B. V., Gecz, J., Jolly, L., Sharma, R., Corbett, M., Perez-Jurado, L., . . . Domingo, D. (2020). Partial loss of USP9X function leads to a male neurodevelopmental and behavioural disorder converging on TGFβ signalling. Biological Psychiatry, 87(2), 100-112.
DOI Scopus58 WoS56 Europe PMC51 |
| 2020 |
Domingo, D., Nawaz, U., Corbett, M., Espinoza, J. L., Tatton-Brown, K., Coman, D., . . . Jolly, L. A. (2020). A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks. Human Molecular Genetics, 29(15), 2568-2578.
DOI Scopus15 WoS15 Europe PMC15 |
| 2019 |
Johnson, J. L., Stoica, L., Liu, Y., Zhu, P. J., Bhattacharya, A., Buffington, S., . . . Costa-Mattioli, M. (2019). Inhibition of Upf2-dependent nonsense-mediated decay leads to behavioral and neurophysiological abnormalities by activating the immune response. Neuron, 104(4), 665-679.e8.
DOI Scopus55 WoS53 Europe PMC56 |
| 2018 |
Cheng, H., Dharmadhikari, A., Varland, S., Ma, N., Domingo, D., Kleyner, R., . . . Lyon, G. (2018). Truncating variants in NAA15 are associated with variable levels of intellectual disability, autism spectrum disorder, and congenital anomalies. American Journal of Human Genetics, 102(5), 985-994.
DOI Scopus67 WoS62 Europe PMC73 |
| 2017 |
Bridges, C., Tan, M., Premarathne, S., Nanayakkara, D., Bellette, B., Zencak, D., . . . Wood, S. (2017). USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors. Scientific Reports, 7(1), 391-1-391-15.
DOI Scopus37 WoS36 Europe PMC37 |
| 2016 |
Reijnders, M., Zachariadis, V., Latour, B., Jolly, L., Mancini, G., Pfundt, R., . . . Kleefstra, T. (2016). De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformations. American Journal of Human Genetics, 98(2), 373-381.
DOI Scopus97 WoS90 Europe PMC82 |
| 2015 |
Jolly, L., Nguyen, L., Domingo, D., Sun, Y., Barry, S., Hancarova, M., . . . Gecz, J. (2015). HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.. Human Molecular Genetics, 24(12), 3335-3347.
DOI Scopus42 WoS43 Europe PMC50 |
