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Posts classified under: Australian Genomics and Partners

Australian Genomics   →  Australian Genomics and Partners

Dynamic Consent: An Evaluation and Reporting Framework.

Prictor, M., Lewis, M.A., Newson, A.J., Haas, M., Baba, S., Kim, H., et al. (2019). Dynamic Consent: An Evaluation and Reporting Framework. J Empir Res Hum Res Ethics. [ePub ahead of print].

The ethics approval process for multi-site research studies in Australia: changes sought by the Australian Genomics initiative.

Haas, M.A., Boughtwood, T.F., & Quinn, M.C. (2019). The ethics approval process for multisite research studies in Australia: changes sought by the Australian Genomics initiative. Med J Aust, 211(10), 440-444.e441.

Ensuring Best Practice in Genomic Education and Evaluation: A Program Logic Approach.

Nisselle, A., Martyn, M., Jordan, H., Kaunein, N., McEwen, A., Patel, C., et al. (2019). Ensuring Best Practice in Genomic Education and Evaluation: A Program Logic Approach. 10(1057).

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.

Byrne AB, Arts P, Polyak SW, Feng J, Schreiber AW, Kassahn KS, et al. (2019). Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6. NPJ Genom Med.

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.

Rius, R., Van Bergen, N.J., Compton, A.G., Riley, L.G., Kava, M.P., Balasubramaniam, S., et al. (2019). Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants. J Clin Med, 8(11).

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Cheng, H., Capponi, S., Wakeling, E., Marchi, E., Li, Q., Zhao, M., et al. (2019). Hum Mutation.

Preparing Medical Specialists to Practice Genomic Medicine: Education an Essential Part of a Broader Strategy.

Crellin, E., McClaren, B., Nisselle, A., Best, S., Gaff, C., & Metcalfe, S. (2019). Preparing Medical Specialists to Practice Genomic Medicine: Education an Essential Part of a Broader Strategy. Frontiers in Genetics, 10(789).

Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation

Mallett, A.J., Quinlan, C., Patel, C., Fowles, L., Crawford, J., Gattas, M., et al. (2019). Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation. Kidney Medicine.

Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm.

Jayasinghe, K., White, S.M., Kerr, P.G., MacGregor, D., Stark, Z., Wilkins, E., et al. (2019). Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm. BMC Nephrol, 20(1), 330.

Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol.

Jayasinghe, K., Stark, Z., Patel, C., Mallawaarachchi, A., McCarthy, H., Faull, R., et al. (2019). Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol. 9(8), e029541.

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