Paul De Fazio
Paul De Fazio
Details
Role
Medical Scientist
Group
TGU Clinical Genomics
I have more than a decade of experience in diagnostic genetics and genomics. At the Victorian Clinical Genetics Services I identify diagnoses in patients and improve genomic analysis workflows through the development of new tools and automation. I also translate research into the diagnostic laboratory, and had a key role in the Automated Reanalysis Project led by Professor Zornitza Stark. I am currently training for Fellowship of the Faculty of Science of the Royal College of Pathologists Australasia (RCPA).
I have more than a decade of experience in diagnostic genetics and genomics. At the Victorian Clinical Genetics Services I identify diagnoses in patients and improve genomic analysis workflows through the development of new tools and automation. I...
I have more than a decade of experience in diagnostic genetics and genomics. At the Victorian Clinical Genetics Services I identify diagnoses in patients and improve genomic analysis workflows through the development of new tools and automation. I also translate research into the diagnostic laboratory, and had a key role in the Automated Reanalysis Project led by Professor Zornitza Stark. I am currently training for Fellowship of the Faculty of Science of the Royal College of Pathologists Australasia (RCPA).
Top Publications
- Welland, MJ, Ahlquist, KD, De Fazio, P, Austin-Tse, C, Pais, L, Wedd, L, Bryen, S, Rius, R, Franklin, M, Morrison, C, et al. Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.. 2025 view publication
- Tse, C, Ahlquist, K, Welland, M, de Fazio, P, Simons, C, Pais, L, Hall, G, Wander, J, Smith, G, Gauthier, L, et al. P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis. Genetics in Medicine Open 3: 103016 2025 view publication
- Mallawaarachchi, AC, Fowles, L, Wardrop, L, Wood, A, O'Shea, R, Biros, E, Harris, T, Alexander, SI, Bodek, S, Boudville, N, et al. Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study.. Clin J Am Soc Nephrol 19(7) : 887 -897 2024 view publication
- Lunke, S, Bouffler, SE, Downie, L, Caruana, J, Amor, DJ, Archibald, A, Bombard, Y, Christodoulou, J, Clausen, M, De Fazio, P, et al. Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.. BMJ Open 14(4) : e081426 2024 view publication
- Austin, R, Brown, JS, Casauria, S, Madelli, EO, Mattiske, T, Boughtwood, T, Metke, A, Davis, A, Horton, AE, Winlaw, D, et al. A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.. Genet Med Open 2: 101842 2024 view publication
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