Author

Michael Collingwood Fahey

Monash UniversityORCID 0000-0003-0811-4785Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:software / tool· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Bhooma R. AravamuthaniD· 2 shared Michael C. KrueriD· 2 shared Sara A. LewisiD· 2 shared Alejandro Metke· 1 shared Alessandra BrayiD· 1 shared Alison G. ComptoniD· 1 shared Ann E. FrazieriD· 1 shared AnneMarie E. WelchiD· 1 shared

Activity by Year

2024-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bhooma R. AravamuthanORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicineAJOB Empirical BioethicsPeer-reviewedJun 23, 2025

Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies

Bethany Y. Norton, James Liu, Sara A. Lewis…·Michael C. Kruer

The paper develops and validates an electronic informed consent platform for trio-based genomic research, showing high participant comprehension and satisfaction.

2 citations

experimental assaysoftware / tool

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Genetic & Genomic MedicineArchives of Pediatrics and Adolescent MedicinePeer-reviewedDec 2, 2024

Clinical actionability of genetic findings in cerebral palsy

Sara A. Lewis, Maya Chopra, Julie S. Cohen…·Michael C. Kruer

The paper evaluates the clinical impact of genetic findings in cerebral palsy, finding 8% of cases have actionable genetic diagnoses with moderate-high clinical utility.

22 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedSep 19, 2024

The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses

Rocío Rius, Alison G. Compton, Naomi L. Baker…·David Ross Thorburn

The paper evaluates the diagnostic effectiveness of genomic sequencing in mitochondrial diseases using blood samples, finding a 55% diagnostic yield with higher rates in pediatric cases.

11 citations

humanwhole-exome sequencing

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