photo of Dr Michelle de Silva

Dr Michelle de Silva

Dr Michelle de Silva

Details

Role Associate Genetic Counsellor
Group Clinical Services

Top Publications

  • Rius, R, Compton, AG, Baker, NL, Balasubramaniam, S, Best, S, Bhattacharya, K, Boggs, K, Boughtwood, T, Braithwaite, J, Bratkovic, D, et al. The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses. 2024
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  • Garza, D, Hildebrand, MS, Penington, AJ, Brown, N, de Silva, MG. Australian healthcare professionals' perspectives on genetic counseling and genetic diagnosis in vascular anomalies.. J Genet Couns 2023
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  • Harris, M, Best, S, de Silva, MG, Finlay, K. "It's fundamental to the work that we do": Genetic counselors' perceptions of their role in clients' mental well-being.. J Genet Couns 2023
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  • Lunke, S, Bouffler, SE, Patel, CV, Sandaradura, SA, Wilson, M, Pinner, J, Hunter, MF, Barnett, CP, Wallis, M, Kamien, B, et al. Integrated multi-omics for rapid rare disease diagnosis on a national scale.. Nat Med 29(7) : 1681 -1691 2023
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  • Scheffer, IE, Bennett, CA, Gill, D, de Silva, MG, Boggs, K, Marum, J, Baker, N, Australian Genomics DEE Flagship, Palmer, EE, Howell, KB. Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.. Dev Med Child Neurol 65(1) : 50 -57 2023
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