Author

Patricia A. Sullivan

UNSW SydneyORCID 0000-0002-4886-8883Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Cancer Biology· 1 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:cancer & tumor microenvironment· 1

Frequent Co-Authors

Chelsea MayohiD· 2 shared Loretta M. S. LauiD· 2 shared Marie WongiD· 2 shared Mark J. CowleyiD· 2 shared Paul G. EkertiD· 2 shared Akanksha SenapatiiD· 1 shared Andrew S. MooreiD· 1 shared Angela LiniD· 1 shared

Activity by Year

2022-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersCancer Biology

Chelsea MayohORCID

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3 papers

Recent·Most cited

CBL mutations in pediatric solid and CNS tumors are a marker of receptor tyrosine kinase activation and a potential therapeutic target

Lauren M. Brown, Chelsea Mayoh, Katherine A Camper, Gábor Tax, Pablo Acera Mateos, Wenyan Li, Sam El-Kamand, Patricia A. Sullivan, James Bradley, Paris I. Thompson, Jingwei Chen, Teresa Sadras, Robert Salomon, Marie Wong, Mark J. Cowley, , Paul G. Ekert

bioRxiv · Dec 5, 2025 · PreprintCancer Biology

Expanding the utility of transcriptome analysis for mutation detection in high-risk childhood precision oncology

Chelsea Mayoh, Paulette Barahona, Angela Lin, Lujing Cui, Pamela Ajuyah, Ann Altekoester, Loretta M. S. Lau, Dong-Anh Khuong-Quang, Patricia A. Sullivan, Akanksha Senapati, Sumanth Nagabushan, Ashleigh Sullivan, Natacha Omer, Andrew S. Moore, Wayne Nicholls, , Mark J. Cowley

This paper shows RNA-seq can detect most mutations found by WGS in pediatric tumors and provides additional insights into their pathogenicity.

bioRxiv · Jun 25, 2025 · PreprintGenomics

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism

Lein Dofash, Gavin Monahan, Emilia Servián‐Morilla, Eloy Rivas, Fathimath Faiz, Patricia A. Sullivan, Emily C. Oates, Joshua S. Clayton, Rhonda L. Taylor, Mark R. Davis, Traude Helene Beilharz, Nigel G. Laing, Macarena Cabrera‐Serrano, Gianina Ravenscroft

The paper identifies a splice-altering variant in KLHL40 causing milder NEM8, showing it leads to reduced mRNA and protein expression through aberrant splicing.

Human Molecular Genetics · Nov 2, 2022Peer-reviewedGenetic & Genomic Medicine