| De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformations MRF Reijnders, V Zachariadis, B Latour, L Jolly, GM Mancini, R Pfundt, ... The American Journal of Human Genetics 98 (2), 373-381, 2016 | 100 | 2016 |
| Truncating variants in NAA15 are associated with variable levels of intellectual disability, autism spectrum disorder, and congenital anomalies H Cheng, AV Dharmadhikari, S Varland, N Ma, D Domingo, R Kleyner, ... The American Journal of Human Genetics 102 (5), 985-994, 2018 | 70 | 2018 |
| HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain LA Jolly, LS Nguyen, D Domingo, Y Sun, S Barry, M Hancarova, ... Human molecular genetics 24 (12), 3335-3347, 2015 | 66 | 2015 |
| Inhibition of Upf2-dependent nonsense-mediated decay leads to behavioral and neurophysiological abnormalities by activating the immune response JL Johnson, L Stoica, Y Liu, PJ Zhu, A Bhattacharya, SA Buffington, ... Neuron 104 (4), 665-679. e8, 2019 | 54 | 2019 |
| Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling BV Johnson, R Kumar, S Oishi, S Alexander, M Kasherman, MS Vega, ... Biological Psychiatry 87 (2), 100-112, 2020 | 50 | 2020 |
| USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors CR Bridges, MC Tan, S Premarathne, D Nanayakkara, B Bellette, ... Scientific reports 7 (1), 1-15, 2017 | 44 | 2017 |
| Resting-state networks in tinnitus: A scoping review TE Kok, D Domingo, J Hassan, A Vuong, B Hordacre, C Clark, ... Clinical Neuroradiology 32 (4), 903-922, 2022 | 18 | 2022 |
| A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks D Domingo, U Nawaz, M Corbett, JL Espinoza, K Tatton-Brown, D Coman, ... Human Molecular Genetics 29 (15), 2568-2578, 2020 | 13 | 2020 |
| UPF3B mutations including a novel synonymous variant associated with absent speech implicate nonsense mediated mRNA decay as a regulator of neurodevelopmental disorder gene … D Domingo, U Nawaz, M Corbett, JL Espinoza, K Tatton-Brown, D Coman, ... Human Molecular Genetics, 2020 | 13* | 2020 |
| Associations between intake of dietary flavonoids and the 10-year incidence of tinnitus in older adults D Tang, Y Tran, JR Lewis, NP Bondonno, CP Bondonno, JM Hodgson, ... European Journal of Nutrition 61 (4), 1957-1964, 2022 | 6 | 2022 |
| COVID-19 and tinnitus: an initiative to improve tinnitus care B Mui, N Leong, B Keil, D Domingo, HA Dafny, V Manchaiah, B Gopinath, ... International Journal of Audiology 62 (9), 826-834, 2023 | 4 | 2023 |
| A Study of Nonsense Mediated mRNA Decay Using Naturally Occurring Genetic Variants and Through the Development of a Synthetic Reporter Transgene DD Domingo | | 2020 |
