Preparing Australia for Genomic Medicine: A proposal by the Australian Genomics Health Alliance

Project: Research

Status	Finished
Effective start/end date	1/01/16 → 31/12/20

Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations
Kooshavar, D., Amor, D. J., Boggs, K., Baker, N., Barnett, C., de Silva, M. G., Edwards, S., Fahey, M. C., Marum, J. E., Snell, P., Bozaoglu, K., Pope, K., Mohammad, S. S., Riney, K., Sachdev, R., Scheffer, I. E., Schenscher, S., Silberstein, J., Smith, N. & Tom, M. & 3 others, Ware, T. L., Lockhart, P. J. & Leventer, R. J., 2024, In: Brain Communications. 6, 2, 10 p., fcae056.
Research output: Contribution to journal › Article › Research › peer-review

Open Access

2 Link opens in a new tab Citations (Scopus)
Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public
Tiller, J. M., Stott, A., Finlay, K., Boughtwood, T., Madelli, E. O., Horton, A., Winship, I., Nowak, K. & Otlowski, M., Jan 2024, In: European Journal of Human Genetics. 32, 1, p. 98-108 11 p.
Research output: Contribution to journal › Article › Research › peer-review

Open Access

21 Link opens in a new tab Citations (Scopus)
Response to Lombardi and Mesnard
Wu, Y., Jayasinghe, K., Stark, Z., Quinlan, C., Patel, C., McCarthy, H., Mallawaarachchi, A. C., Kerr, P. G., Alexander, S. I., Mallett, A. J., Goranitis, I. & on behalf of The KidGen Collaborative investigators, Jan 2024, In: Genetics in Medicine. 26, 1, 2 p., 100989.
Research output: Contribution to journal › Letter › Other › peer-review

Project Details