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Paul De Fazio

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution
2021 · Zornitza Stark, Rebecca E. Foulger, et al. · The American Journal of Human Genetics · 79
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Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol
2024 · Sebastian Lunke, Sophie E Bouffler, et al. · BMJ Open · 51
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Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study
2025 · Sebastian Lunke, Lilian Downie, et al. · Nature Medicine · 36
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Genomic Testing in Patients with Kidney Failure of an Unknown Cause
2024 · Amali C. Mallawaarachchi, Lindsay Fowles, et al. · Clinical Journal of the American Society of Nephrology · 24
Titin-related familial dilated cardiomyopathy: factors associated with disease onset
2025 · Renee Johnson, Robert A Fletcher, et al. · European Heart Journal · 20
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Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts
2025 · Matthew J Welland, K.D. Ahlquist, et al. · medRxiv · 11
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A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship
2024 · Rachel Austin, Jaye S. Brown, et al. · Genetics in Medicine Open · 9
Automated reanalysis of genomic data for rare disease diagnostics at scale
2026 · Matthew J. Welland, K. D. Ahlquist, et al. · Nature Medicine · 5
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Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy
2026 · Jimmy N.H. Nguyen, Maria Lachgar-Ruiz, et al. · Neurology · 4
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O62: Comprehensive reanalysis increases the diagnostic yield of rapid genome sequencing in infantile epilepsy
2026 · Jimmy Nguyen, Maria Lachgar-Ruiz, et al. · Genetics in Medicine Open
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Feasibility, acceptability and clinical outcomes of genomic newborn screening in a prospective cohort
2025 · Sebastian Lunke, Lilian Downie, et al. · Deakin Research Online (Deakin University)
Implementation of expanded carrier screening at VCGS
2025 · Crystle Lee, Sebastian Hollizeck, et al. · Pathology
P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis
2025 · Christina Tse, Kaileigh Ahlquist, et al. · Genetics in Medicine Open
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Works count: 14
Citation count: 248
H-index: 8
I10-index: 6
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