Cancer BiologybioRxivPreprint
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…·Paul G. Ekert
1 citation
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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2022-2025 · peak 2/yrCo-Author Collaboration Network
10 top collaborators · 41 mutual co-author linksFocal author (center)Selected co-authorORCID co-authorUnlinked name
Curved chords = mutual co-authorship3 papers
Recent·Most cited
- GenomicsbioRxivPreprint
Expanding the utility of transcriptome analysis for mutation detection in high-risk childhood precision oncology
Chelsea Mayoh, Paulette Barahona, Angela Lin…·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.
DOI 10.1101/2025.06.25.661445 - Genetic & Genomic MedicineHuman Molecular GeneticsPeer-reviewed
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism
Lein Dofash, Gavin Monahan, Emilia Servián‐Morilla…·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.
16 citations