Comprehensive evaluation of deconvolution methods for human brain gene expression GJ Sutton, D Poppe, RK Simmons, K Walsh, U Nawaz, R Lister, ... Nature Communications 13 (1), 1358, 2022 | 65 | 2022 |
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 |
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 |
RLIM is a candidate dosage-sensitive gene for individuals with varying duplications of Xq13, intellectual disability, and distinct facial features EE Palmer, R Carroll, M Shaw, R Kumar, AE Minoche, M Leffler, L Murray, ... The American Journal of Human Genetics 107 (6), 1157-1169, 2020 | 7 | 2020 |
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations KR Dias, CM Carlston, LER Blok, L De Hayr, U Nawaz, CA Evans, ... Genetics in Medicine 24 (9), 1952-1966, 2022 | 6 | 2022 |
Proteomic insights into paediatric cancer: Unravelling molecular signatures and therapeutic opportunities BD Padhye, U Nawaz, PG Hains, RR Reddel, PJ Robinson, Q Zhong, ... Pediatric Blood & Cancer, e30980, 2024 | | 2024 |
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay T Ha, A Morgan, MN Bartos, K Beatty, B Cogné, D Braun, CB Gerber, ... American Journal of Medical Genetics Part A, e63559, 2024 | | 2024 |
RLIM is a candidate dosage sensitive gene for individuals with varying duplications of Xq13, intellectual disability and recognizable facial features. EE Palmer, R Caroll, M Shaw, R Kumar, U Nawaz, A Minoche, M Leffler, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 995-996, 2020 | | 2020 |
Student-Led Peer Mentoring A Hardwick, L Loader, J Driver, L Taylor, K Hill | | |