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Urwah Nawaz
Urwah Nawaz
PhD Candidate
在 adelaide.edu.au 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
652022
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
542019
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
132020
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
72020
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
62022
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
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