Author

Paul James

The Royal Melbourne HospitalPrimary ORCID profile (0000-0001-9214-1641 · 1 paper)Unclaimed ORCID profile · follow to get notified of new preprints

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Same name, identified by ORCID

Paul JamesiD1 paper · Northumbria University

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:genetic perturbation / CRISPR· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alicia OshlackiD· 1 shared Amy BakeriD· 1 shared Andres Rico‐Armada· 1 shared Andrew Lonie· 1 shared Angela Woods· 1 shared Angharad M. RobertsiD· 1 shared Brian P. HallidayiD· 1 shared Carlos C. Smith-DíaziD· 1 shared

Activity by Year

2015-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperBioinformatics

Alicia OshlackORCID

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2 papers

Recent·Most cited

MAP3K7 Loss of Function Causes Dilated Cardiomyopathy

Katherine S. Josephs, Carlos C. Smith-Díaz, Angela Woods, Claire Prince, Sean Lee Zheng, Rachel J. Buchan, Esmé Cavanagh, Shezan Elahi, Emma R. Jennings, Henry Procter, James S. McTaggart, Riyad Janan, Pantazis I. Theotokis, Amy Baker, Natasha Henden, , James S. Ware

This paper shows that loss-of-function variants in MAP3K7 cause dilated cardiomyopathy (DCM), both as part of syndromic disease and as apparently isolated DCM.

medRxiv · Oct 15, 2026 · PreprintGenetic & Genomic Medicine

Cpipe: a shared variant detection pipeline designed for diagnostic settings

Simon Sadedin, Harriet Dashnow, Paul James, Melanie Bahlo, Denis C Bauer, Andrew Lonie, Sebastian Lunke, Ivan Macciocca, Jason Ross, Kirby R Siemering, Zornitza Stark, Sue White, Graham Taylor, Clara Gaff, Alicia Oshlack, , Melbourne Genomics Health Alliance

Cpipe is a variant detection pipeline designed for clinical genomics, offering fast, reproducible, and customizable analysis for diagnostic settings.

bioRxiv · Jun 3, 2015Bioinformatics