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Mark J. Cowley

unsw sydney

63H-index
408Paper Count
2.0WCitation Count
Published Papers 143
Publication Date
Prior therapy defines mutation profiles in childhood cancer at relapse
errNature
IF48.5
err2026-07-22
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errOAAI
errMehdi Layeghifard; Marcos Díaz-Gay; Erik N. Bergstrom; Mathepan J. Mahendralingam; Nicholas Light; Sasha Blay; Joshua O. Nash; Nathaniel D. Anderson; Jessica N. Au; Scott Davidson; Pedro L. Ballester; Timmy Wen; Syed Kashif Daud; Lisa-Monique Edward; S. M. Ashiqul Islam; Azhar Khandekar; Burçak Otlu; Ledia Brunga; Rawan Hammad; Shimaa Nassif; Nirav H. Thacker; Tara Feltham; Noemi A. Fuentes-Bolanos; Marie Wong-Erasmus; Max F. Levine; Katherine E. Miller; Neerav N. Shukla; Michael D. Kinnaman; Dominik Glodzik; Carol Portwine; Sabrina Millson; Alexandra P. Zorzi; Mariam Mikhail; Conrad V. Fernandez; Laura Wheaton; Gunes Gundem; Andrew L. Kung; Uri Tabori; Chelsea Mayoh; Elli Papaemmanuil; Mark J. Cowley; David Malkin; Anita Villani; Ludmil B. Alexandrov; Adam Shlien
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Precision-guided therapy in H3K27-altered diffuse midline glioma
err2026-05-19
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errOAAI
errCampbell J. L. McKay; Chelsea Mayoh; Phoebe Power; Sophie Jessop; Shampavi Sriharan; Jordan Staunton; Sarah Trinder; Nataliya Zhukova; Cristina Mignone; Dinisha Govender; Frank Alvaro; Peter Downie; Jordan R. Hansford; Tim Hassall; Santosh Valvi; Marion K. Mateos; Paulette Barahona; Andrew J. Gifford; Gabor Tax; Maria Tsoli; Emmy M. Dolman; Marie Wong; Mark Cowley; Glenn M. Marshall; Toby N. Trahair; Paul G. Ekert; Michelle Haber; Vanessa Tyrell; Loretta M. S. Lau; Neevika Manoharan; David S. Ziegler; Dong-Anh Khuong-Quang
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TIP-30. Molecularly-guided phase 2 umbrella trial for children and young adults with newly-diagnosed high-grade glioma (HGG) including diffuse intrinsic pontine glioma (DIPG): CONNECT TarGeT (Targeted pediatric HGG therapy) trial in progress
err2025-11-11
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errOAAI
errMargot Lazow; Kathleen Schieffer; Diana Thomas; Vera Paulson; Bonnie Cole; Christine Fuller; Santosh Valvi; Nicholas Gottardo; Michael Fisher; Ashley Plant; Ralph Salloum; Erin Crotty; Eugene Hwang; Anirban Das; Uri Tabori; Hamza Gorsi; Susan Chi; Sarah Leary; Patricia Baxter; Cynthia Hawkins; Michael Hubank; Thomas Jacques; David Jones; Felix Sahm; Mark Cowley; David Ziegler; Michael Rodriguez; Jason Dyke; Thomas Robertson; Joshua Palmer; Kelsey Troyer; Anna Harr; Rachid Drissi; Elaine Mardis; Darren Hargrave; Chris Jones; Maryam Fouladi
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Harmonization of reporting for detection of ALK genetic alterations in neuroblastoma - a SIOPEN Biology study
err2025-10-17
err0
PREAI
errAlexandra Saint-Charles; Julien Masliah-Planchon; Elnaz Saberi-Ansari; Angela Bellini; Marie Bernkopf; Jaime Font de Mora; Rosa Noguera Salvá; Nadine Van Roy; Angharad Goodman; Ales Vicha; Valery Attignon; Valérie Combaret; Klaus Beiske; Tommy Martinsson; Jacqueline Schoumans; Maria Rossing; Bastiaan Tops; Frank Westermann; Sophie Cotteret; Matthias Fischer; Yehudit Birger; Katia Mazzocco; Louis Chesler; David Betts; Mark Cowley; Mario Capasso; Charles Bobin; Yasmine Iddir; Sakina Zaidi; Angel M. Carcaboso; Joni Vandermeulen; Siebe Loontiens; Jennie Gaarder; Raghda R. Ibrahim; Carolina Rosswog; Michal Hameiri-Grossman; Keren Shichrur; Toby Trahair; Paulette Barahona; Angelika Eggert; Hedwig E. Deubzer; Olivier Delattre; Claudia Pasqualini; Sally George; Godelieve Tytgat; Deborah A. Tweddle; Sabine Taschner-Mandl; Gudrun Schleiermacher
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Data-driven insights to inform splice-altering variant assessment
err2025-04-01
err0
errOAAI
errSullivan, Patricia J.; Quinn, Julian M. W.; Ajuyah, Pamela; Pinese, Mark; Davis, Ryan L.; Cowley, Mark J.
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Returning raw genomic data to research participants in a pediatric cancer precision medicine trial (vol 10, 12, 2025)
err2025-03-24
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errOAAI
errBarlow-Stewart, Kristine; Courtney, Eliza; Cowley, Mark; Ebzery, Camron; Fuentes Bolanos, Noemi; Gifford, Andrew J.; Harden, Hazel; Josephi-Taylor, Sarah; Kotecha, Rishi S.; Mateos, Marion K.; Manzur, Mitali; Milnes, Di; Nielsen, Jane; O'Connor, Matthew; Padhye, Bhavna; Pitman, Catherine; Pitman, Elizabeth; Pinese, Mark; Speechly, Catherine; Sullivan, Ashleigh; Tucker, Katherine; Tyrrell, Vanessa; Warby, Meera; Wood, Andrew; Ziegler, David S.; Johnston, Carolyn
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Germline analysis of an international cohort of pediatric diffuse midline glioma patients
err2025-03-12
err0
PREAI
errMarion K Mateos; Pamela Ajuyah; Noemi Fuentes-Bolanos; Sam El-Kamand; Paulette Barahona; Ann-Kristin Altekoester; Chelsea Mayoh; Holly Holliday; Jie Liu; Louise Cui; Elke Pfaff; Alan Mackay; Adam C Resnick; Mark Pinese; Loretta M S Lau; Dong-Anh Khuong-Quang; Kimberly Dias; Catherine Goudie; Alison Salkeld; Jo Lynne Rokita; David T W Jones; Nikoleta Juretic; Elisha Hayden; Stefan M Pfister; Christof M Kramm; Mirjam Blattner-Johnson; Nada Jabado; Maria Tsoli; Orazio Vittorio; Sabine Mueller; Yiran Guo; Katherine Tucker; Sebastian M Waszak; Sebastien Perreault; Chris Jones; Marie Wong-Erasmus; Mark J Cowley; David S Ziegler
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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
err2025-01-24
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errOAAI
errCoppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S.; Griffin, Kaitlyn R.; Jones, Kristi J.; Vilain, Catheline N.; Kadhim, Hazim; Bryen, Samantha J.; Faiz, Fathimath; Waddell, Leigh B.; Evesson, Frances J.; Bakshi, Madhura; Pinner, Jason R.; Charlton, Amanda; Brammah, Susan; Graf, Nicole S.; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C.; Illingworth, Marjorie A.; Thomas, Neil H.; Ellard, Sian; Mazanti, Ingrid; Park, Soo-Mi; French, Courtney E.; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M.; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J.; Splitt, Miranda P.; Moldovan, Corina; de Silva, Deepthi C.; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T.; Laing, Nigel G.; Raymond, F. Lucy; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Manzur, Adnan; Corley, Susan M.; Ravenscroft, Gianina; Wilkins, Marc R.; Cowley, Mark J.; Pinese, Mark; Phadke, Rahul; Davis, Mark R.; Muntoni, Francesco; Oates, Emily C.
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Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan Syndrome
err2024-10-19
err0
errOAAI
errStaunton, Jordan; Ajuyah, Pamela; Harris, Angela; Mayoh, Chelsea; Wong, Marie; Rumford, Megan; Sullivan, Patricia J.; Ekert, Paul G.; Fuentes-Bolanos, Noemi; Cowley, Mark J.; Lau, Loretta M. S.; Ziegler, David S.; Barahona, Paulette; Manoharan, Neevika
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SpliceVarDB: A comprehensive database of experimentally validated human splicing variants
err2024-10-01
err4
errOAAI
errSullivan, Patricia J.; Quinn, Julian M. W.; Wu, Weilin; Pinese, Mark; Cowley, Mark J.
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Precision-guided treatment improves outcomes for children with high-risk cancers
err2024-10-01
err0
PREAI
errLau, L.; Khoung-Quang, D. A.; Chelsea, M.; Wong, M.; Barahona, P.; Ajuyah, P.; Senapati, A.; Nagabushan, S.; Sherstyuk, A.; Altekoester, A. K.; Fuentes-Bolanos, N.; Sullivan, A.; Mateos, M.; Tyrrell, N.; Haber, M.; Trahair, T.; Cowley, M.; Marshall, G.; Ekert, P.; Ziegler, D.
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A novel NTRK2-activating internal tandem duplication characterizes a new mechanism of receptor tyrosine kinase activation
err2024-09-05
err0
PREAI
errBrown, Lauren M.; Tax, Gabor; Mateos, Pablo Acera; de Weck, Antoine; Foresto, Steve; Jalud, Fatimah; Sadras, Teresa; Ajuyah, Pamela; Barahona, Paulette; Dolman, M. Emmy M.; Wong, Marie; Mayoh, Chelsea; Cowley, Mark J.; Ekert, Paul G.
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Chemotherapy is a major mutagen in relapsed childhood cancer
err2024-09-05
err0
PREAI
errLayeghifard, Mehdi; Light, Nicholas; Bergstrom, Erik; Gay, Marcos Diaz; Mahendralingam, Mathepan J.; Blay, Sasha; Davidson, Scott; Ballester, Pedro L.; Hammad, Rawan; Bolanos, Noemi Fuentes; Nassif, Shimaa; Thacker, Nirav H.; Mayoh, Chelsea; Malkin, David; Papaemmanuil, Elli; Cowley, Mark J.; Villani, Anita; Alexandrov, Ludmil B.; Shlien, Adam
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Clinical utility of real-time comprehensive molecular profiling in childhood brain tumors
err2024-09-05
err0
PREAI
errLau, Loretta M. S.; Khuong-Quang, Dong-Anh; Staunton, Jordan; Sanders, Nicholas; Sriharan, Shampavi; Trinder, Sarah; Manoharan, Neevika; Barahona, Paulette; Altekoester, Ann-Kristin; Dias, Kimberley; Rumford, Megan; Sylvester, Dianne; Parhar, Jasmine; Mateos, Marion K.; Wong, Marie; Mayoh, Chelsea; Cowley, Mark J.; Ekert, Paul G.; Haber, Michelle; Tyrrell, Vanessa; Ziegler, David S.
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Increasing the clinical utility of transcriptome analysis in high-risk childhood precision oncology
err2024-09-05
err0
PREAI
errMayoh, Chelsea; Barahona, Paulette; Lin, Angela; Cui, Lujing; Ajuyah, Pamela; Altekoester, Ann; Lau, Loretta M. S.; Khuong-Quang, Dong-Anh; Tyrrell, Vanessa; Haber, Michelle; Wong-Erasmus, Marie; Ekert, Paul G.; Cowley, Mark J.
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Putting function back into paediatric cancer genomics - modelling the therapeutic implications of novel genomic features
err2024-09-05
err0
PREAI
errSadras, Teresa; Brown, Lauren M.; Salib, Alice; Liu, Pei Y.; Mayoh, Chelsea; Tyrrell, Vanessa; Cowley, Mark J.; Ekert, Paul G.
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Implementing ultra-sensitive, ctDNA-based liquid biopsy for disease monitoring in paediatric tumours
err2024-09-05
err0
PREAI
errSalomon, Robert; Chen, Wenhan; Shale, Charles; Toumari, Mojgan; Lowe, Aileen; Li, Wenyan; Chen, Jingwei; Bazaz, Sajad Razavi; Barahona, Paulette; Cui, Louise; Mayoh, Chelsea; El-Kamand, Sam; Tryell, Vanessa; Wong-Erasmus, Marie; Lau, Loretta M. S.; Bolanos, Noemi Fuentes; Cuppen, Edwin; Dong Anh Khuong Quang; Staunton, Jordan; Mateos, Marion K.; Trahair, Toby; Haber, Michelle; Ziegler, David S.; Ekert, Paul G.; Priestley, Peter; Cowley, Mark J.
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Timing the development of chemoresistance in relapsed pediatric cancer with mutational signatures
err2024-09-05
err0
PREAI
errBlay, Sasha; Layeghifard, Mehdi; Davidson, Scott; Chen, David; Schwertschkow, Astra; Ramaswamy, Vijay; Taylor, Michael; Papaemmanuil, Elli; Villani, Anita; Malkin, David; Alexandrov, Ludmil; Cowley, Mark; Shlien, Adam
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Enhanced disease detection using single cell RNAseq in children with brain cancer
err2024-09-05
err0
PREAI
errSalomon, Robert; Li, Wenyan; Toumari, Mojgan; Lowe, Aileen; Mayoh, Chelsea; Barahona, Paulettte; Lau, Loretta M. S.; Staunton, Jordan; Jacobson, Erica; Nagabushan, Sumanth; Manoharan, Neevika; Mitchell, Ruth; Ong, Faustine; Haber, Michelle; Ziegler, David S.; Cowley, Mark J.; Mateos, Marion K.
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Genome sequencing reanalysis increases the diagnostic yield in dystonia
err2024-07-01
err0
errOAAI
errFellner, Avi; Wali, Gurusidheshwar M.; Mahant, Neil; Grosz, Bianca R.; Ellis, Melina; Narayanan, Ramesh K.; Ng, Karl; Davis, Ryan L.; Tchan, Michel C.; Kotschet, Katya; Yeow, Dennis; Rudaks, Laura I.; Siow, Sue-Faye; Wali, Gautam; Yiannikas, Con; Hobbs, Matthew; Copty, Joseph; Geaghan, Michael; Darveniza, Paul; Liang, Christina; Williams, Laura J.; Chang, Florence C. F.; Morales-Briceno, Hugo; Tisch, Stephen; Hayes, Michael; Whyte, Scott; Kummerfeld, Sarah; Kennerson, Marina L.; Cowley, Mark J.; Fung, Victor S. C.; Sue, Carolyn M.; Kumar, Kishore R.
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