Publications by authors named "Mark Cowley"

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High-throughput 3D engineered paediatric tumour models for precision medicine.
MoonSun Jung, Valentina Poltavets, Joanna N Skhinas, Gabor Tax, Alvin Kamili, Mark J Cowley

Mol Syst Biol· December 2025

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Data Sharing, Biopsies and Patient Confidentiality in a Precision Medicine Trial for Childhood Cancer: A Mixed Method Study of Parents, Oncologists, and Scientists' Perspectives.
Yvanna Lei, Kate Hetherington, Rebecca Daly, Niki Rensen, Brittany C McGill, Mark J Cowley

J Pers Med· November 2025

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Harmonization of Reporting for Detection of ALK Genetic Alterations in Neuroblastoma: A SIOPEN Biology Study.
Alexandra Saint-Charles, Julien Masliah-Planchon, Elnaz Saberi-Ansari, Angela Bellini, Marie Bernkopf, Mark Cowley

J Mol Diagn· October 2025

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Germline analysis of an international cohort of pediatric diffuse midline glioma patients.
Marion K Mateos, Pamela Ajuyah, Noemi Fuentes-Bolanos, Sam El-Kamand, Paulette Barahona, Mark J Cowley

Neuro Oncol· September 2025

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consHLA: a next generation sequencing consensus-based HLA typing workflow.
Rachel Bowen-James, Weilin Wu, Marie Wong-Erasmus, Julian M W Quinn, Chelsea Mayoh, Mark J Cowley

BMC Bioinformatics· August 2025

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A novel TRKB-activating internal tandem duplication characterizes a new mechanism of receptor tyrosine kinase activation.
Lauren M Brown, Gabor Tax, Pablo Acera Mateos, Antoine de Weck, Steve Foresto, Mark J Cowley

NPJ Precis Oncol· May 2025

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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
Sandra Coppens, Nicolas Deconinck, Patricia Sullivan, Andrei Smolnikov, Joshua S Clayton, Mark J Cowley

Ann Neurol· April 2025

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Data-driven insights to inform splice-altering variant assessment.
Patricia J Sullivan, Julian M W Quinn, Pamela Ajuyah, Mark Pinese, Ryan L Davis, Mark J Cowley

Am J Hum Genet· April 2025

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Author Correction: Returning raw genomic data to research participants in a pediatric cancer precision medicine trial.
Kristine Barlow-Stewart, Eliza Courtney, Mark Cowley, Camron Ebzery, Noemi Fuentes Bolanos

NPJ Genom Med· March 2025

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Returning raw genomic data to research participants in a pediatric cancer precision medicine trial.
Kristine Barlow-Stewart, Eliza Courtney, Mark Cowley, Camron Ebzery, Noemi Fuentes Bolanos

NPJ Genom Med· February 2025

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The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.
Rocio Rius, Alison G Compton, Naomi L Baker, Shanti Balasubramaniam, Stephanie Best, Mark Cowley

Genet Med· January 2025

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Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts.
Amali C Mallawaarachchi, Yvonne Hort, Laura Wedd, Kitty Lo, Sarah Senum, Mark J Cowley

NPJ Genom Med· December 2024

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Next-Generation Sequencing and Emerging Technologies.
Kishore R Kumar, Mark J Cowley, Ryan L Davis

Semin Thromb Hemost· October 2024

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The Next, Next-Generation of Sequencing, Promising to Boost Research and Clinical Practice.
Kishore R Kumar, Mark J Cowley, Ryan L Davis

Semin Thromb Hemost· October 2024

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SpliceVarDB: A comprehensive database of experimentally validated human splicing variants.
Patricia J Sullivan, Julian M W Quinn, Weilin Wu, Mark Pinese, Mark J Cowley

Am J Hum Genet· October 2024

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Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan Syndrome.
Jordan Staunton, Pamela Ajuyah, Angela Harris, Chelsea Mayoh, Marie Wong, Mark J Cowley

NPJ Precis Oncol· October 2024

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Genome sequencing reanalysis increases the diagnostic yield in dystonia.
Avi Fellner, Gurusidheshwar M Wali, Neil Mahant, Bianca R Grosz, Melina Ellis, Mark J Cowley

Parkinsonism Relat Disord· July 2024

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Precision-guided treatment in high-risk pediatric cancers.
Loretta M S Lau, Dong-Anh Khuong-Quang, Chelsea Mayoh, Marie Wong, Paulette Barahona, Mark J Cowley

Nat Med· July 2024

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Beyond DNA sequencing: genetic kidney disorders related to altered splicing.
Hugh J McCarthy, Andrew J Mallett, Patricia Sullivan, Mark J Cowley, Amali C Mallawaarachchi

Nephrol Dial Transplant· June 2024

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CRUX, a platform for visualising, exploring and analysing cancer genome cohort data.
Sam El-Kamand, Julian M W Quinn, Heena Sareen, Therese M Becker, Marie Wong-Erasmus, Mark J Cowley

NAR Genom Bioinform· March 2024

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Future-proofing genomic data and consent management: a comprehensive review of technology innovations.
Adrien Oliva, Anubhav Kaphle, Roc Reguant, Letitia M F Sng, Natalie A Twine, Mark J Cowley

Gigascience· January 2024

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They Can Have Our Cake - But Can We Eat It? Access to Raw Genomic Data under Australian Privacy Law.
Carolyn Johnston, Jane Nielsen, Mark J Cowley, Rebekah McWhirter, Margaret Otlowski

J Law Med· December 2023

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High-Throughput Drug Screening of Primary Tumor Cells Identifies Therapeutic Strategies for Treating Children with High-Risk Cancer.
Chelsea Mayoh, Jie Mao, Jinhan Xie, Gabor Tax, Shu-Oi Chow, Mark J Cowley

Cancer Res· August 2023

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Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.
Yvonne Hort, Patricia Sullivan, Laura Wedd, Lindsay Fowles, Igor Stevanovski, Mark J Cowley

NPJ Genom Med· July 2023

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Precision Medicine Is Changing the Roles of Healthcare Professionals, Scientists, and Research Staff: Learnings from a Childhood Cancer Precision Medicine Trial.
Rebecca Daly, Kate Hetherington, Emily Hazell, Bethany R Wadling, Vanessa Tyrrell, Mark J Cowley

J Pers Med· June 2023

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