Urwah Nawaz

Higher Degree by Research Candidate

Adelaide Medical School

Faculty of Health and Medical Sciences

My Research
Career
Publications
Contact

Neurodevelopmental disorders (NDDs) are a group of disorders caused by disruption of
normal brain development and affect about 10% to 15% of the population. While the onset of these disorders is during early stages of brain development, NDDs can have lifelong effects and are major source of economic and clinical care burden on the health care system.

Functional work has shown the genes associated with NDDs have a role in conserved pathways during brain development and suggest that the diverse genes implicated in these disorders may converge on specific pathways during brain development.

My PhD project explores the use of network-based techniques and their applications to brain transcriptomic data to study convergence of genes associated across different NDDs.

Appointments

Date Position Institution name
2023 - 2023 Junior Computational Scientist Pending AI
2018 - 2019 Research Assistant University of Adelaide
Language Competencies

Language Competency
English Can read, write, speak, understand spoken and peer review
Urdu Can speak and understand spoken

Date	Position	Institution name
2023 - 2023	Junior Computational Scientist	Pending AI
2018 - 2019	Research Assistant	University of Adelaide

Language	Competency
English	Can read, write, speak, understand spoken and peer review
Urdu	Can speak and understand spoken

Education

Date	Institution name	Country	Title
2017 - 2018	University of Adelaide	Australia	Bachelor of Science (Honours)(Genetics & Evolution)
2014 - 2017	University of Adelaide	Aaustralia	Bachelor of Science (Biomedical Science)

Journals

Year	Citation
2024	Ha, T., Morgan, A., Bartos, M. N., Beatty, K., Cogné, B., Braun, D., . . . Slavotinek, A. (2024). De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. American Journal of Medical Genetics, Part A, 194(7), e63559. DOI
2024	Padhye, B. D., Nawaz, U., Hains, P. G., Reddel, R. R., Robinson, P. J., Zhong, Q., & Poulos, R. C. (2024). Proteomic insights into paediatric cancer: Unravelling molecular signatures and therapeutic opportunities. Pediatric Blood and Cancer, 71(6), e30980. DOI
2022	Sutton, G. J., Poppe, D., Simmons, R. K., Walsh, K., Nawaz, U., Lister, R., . . . Voineagu, I. (2022). Comprehensive evaluation of deconvolution methods for human brain gene expression. Nature Communications, 13(1), 1358-1-1358-18. DOI Scopus41 Europe PMC45
2022	Dias, K. R., Carlston, C. M., Blok, L. E. R., De Hayr, L., Nawaz, U., Evans, C. A., . . . Roscioli, T. (2022). De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. Genetics in Medicine, 24(9), 1952-1966. DOI Scopus3 Europe PMC2
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 Scopus10 WoS8 Europe PMC8
2020	Palmer, E. E., Carroll, R., Shaw, M., Sharma, R., Minoche, A. E., Leffler, M., . . . Gecz, J. (2020). RLIM Is a candidate dosage-sensitive gene for individuals with varying duplications of Xq13, intellectual disability, and distinct facial features. American Journal of Human Genetics, 107(6), 1157-1169. DOI Scopus6 WoS3 Europe PMC4
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 Scopus41 WoS26 Europe PMC33

Email: urwah.nawaz@adelaide.edu.au

Urwah Nawaz

Appointments

Language Competencies

Education

Journals

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