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The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.
Eratne D, Schneider A, Lynch E, Martyn M, Velakoulis D, Fahey M, Kwan P, Leventer R, Rafehi H, Chong B, Stark Z, Lunke S, Phelan DG, O'Keefe M, Siemering K, West K, Sexton A, Jarmolowicz A, Taylor JA, Schultz J, Purvis R, Uebergang E, Chalinor H, Creighton B, Gelfand N, Saks T, Prawer Y, Smagarinsky Y, Pan T, Goranitis I, Ademi Z, Gaff C, Huq A, Walsh M, James PA, Krzesinski EI, Wallis M, Stutterd CA, Bahlo M, Delatycki MB, Berkovic SF. Eratne D, et al. Among authors: prawer y. J Neurol Sci. 2021 Jan 15;420:117260. doi: 10.1016/j.jns.2020.117260. Epub 2020 Dec 3. J Neurol Sci. 2021. PMID: 33310205
Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Stark Z, Lunke S, Brett GR, Tan NB, Stapleton R, Kumble S, Yeung A, Phelan DG, Chong B, Fanjul-Fernandez M, Marum JE, Hunter M, Jarmolowicz A, Prawer Y, Riseley JR, Regan M, Elliott J, Martyn M, Best S, Tan TY, Gaff CL, White SM; Melbourne Genomics Health Alliance. Stark Z, et al. Among authors: prawer y. Genet Med. 2018 Dec;20(12):1554-1563. doi: 10.1038/gim.2018.37. Epub 2018 Mar 15. Genet Med. 2018. PMID: 29543227 Free article.
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.
Yeung A, Tan NB, Tan TY, Stark Z, Brown N, Hunter MF, Delatycki M, Stutterd C, Savarirayan R, Mcgillivray G, Stapleton R, Kumble S, Downie L, Regan M, Lunke S, Chong B, Phelan D, Brett GR, Jarmolowicz A, Prawer Y, Valente G, Smagarinsky Y, Martyn M, McEwan C, Goranitis I, Gaff C, White SM. Yeung A, et al. Among authors: prawer y. Genet Med. 2020 Dec;22(12):1986-1993. doi: 10.1038/s41436-020-0929-8. Epub 2020 Aug 10. Genet Med. 2020. PMID: 32773771 Free article.
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K, Stark Z, Kerr PG, Gaff C, Martyn M, Whitlam J, Creighton B, Donaldson E, Hunter M, Jarmolowicz A, Johnstone L, Krzesinski E, Lunke S, Lynch E, Nicholls K, Patel C, Prawer Y, Ryan J, See EJ, Talbot A, Trainer A, Tytherleigh R, Valente G, Wallis M, Wardrop L, West KH, White SM, Wilkins E, Mallett AJ, Quinlan C. Jayasinghe K, et al. Among authors: prawer y. Genet Med. 2021 Jan;23(1):183-191. doi: 10.1038/s41436-020-00963-4. Epub 2020 Sep 17. Genet Med. 2021. PMID: 32939031 Free PMC article.
Genetic Counseling in the Era of Genomics: What's all the Fuss about?
Brett GR, Wilkins EJ, Creed ET, West K, Jarmolowicz A, Valente GM, Prawer Y, Lynch E, Macciocca I. Brett GR, et al. Among authors: prawer y. J Genet Couns. 2018 Sep;27(5):1010-1021. doi: 10.1007/s10897-018-0216-x. Epub 2018 Jan 24. J Genet Couns. 2018. PMID: 29368275
Control of Neuronal Survival and Development Using Conductive Diamond.
Falahatdoost S, Prawer YDJ, Peng D, Chambers A, Zhan H, Pope L, Stacey A, Ahnood A, Al Hashem HN, De León SE, Garrett DJ, Fox K, Clark MB, Ibbotson MR, Prawer S, Tong W. Falahatdoost S, et al. Among authors: prawer ydj. ACS Appl Mater Interfaces. 2024 Jan 31;16(4):4361-4374. doi: 10.1021/acsami.3c14680. Epub 2024 Jan 17. ACS Appl Mater Interfaces. 2024. PMID: 38232177
14 results