基本信息
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个人简介
I am a computational biologist specialising in the analysis of genomics data to improve health outcomes in children with cancer, at the interface of diagnostics and discovery research.
My multi-disciplinary group develops novel computational approaches to make sense of genomics, transcriptomics and clinical data, predominantly applied to childhood cancer, but with lots of experience in other cancers and patients with rare genetic diseases. Much of this research is focused on developing tools to identify, understand and interpret mutations in patients, including complex, noncoding and atypical splice-altering genetic variants, which are commonly overlooked drivers of disease. By collaborating widely with clinicians and fundamental biologists, my team seeks to identify answers for patients today and make a long-term impact on our understanding of the molecular basis of disease. My team also develops the digital research architecture that underpins the Zero Childhood Cancer Program, an ambitious national research program that uses precision medicine to diagnose and treat Australian children with cancer.
My multi-disciplinary group develops novel computational approaches to make sense of genomics, transcriptomics and clinical data, predominantly applied to childhood cancer, but with lots of experience in other cancers and patients with rare genetic diseases. Much of this research is focused on developing tools to identify, understand and interpret mutations in patients, including complex, noncoding and atypical splice-altering genetic variants, which are commonly overlooked drivers of disease. By collaborating widely with clinicians and fundamental biologists, my team seeks to identify answers for patients today and make a long-term impact on our understanding of the molecular basis of disease. My team also develops the digital research architecture that underpins the Zero Childhood Cancer Program, an ambitious national research program that uses precision medicine to diagnose and treat Australian children with cancer.
研究兴趣
论文共 310 篇作者统计合作学者相似作者
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Vanessa Tyrrell,Chelsea Mayoh,Paul Ekert,Mark Cowley,David Ziegler,Marie Wong,Paulette Barahona,Mark Pinese,Michelle Haber, Rob Salomon,Eliza Courtney,Richard Lock,Noemi Fuentes-Bolanos,Glenn Marshall,Meera Warby,Toby Trahair,Dong Anh Khuong Quang,Claire Wakefield,Katherine Tucker,Kristine Barlow-Stewart
Pathology (2025): S19
Sandra Coppens,Nicolas Deconinck,Patricia Sullivan,Andrei Smolnikov,Joshua S. Clayton, Kaitlyn R. Griffin,Kristi J. Jones,Catheline N. Vilain,Hazim Kadhim,Samantha J. Bryen,Fathimath Faiz,Leigh B. Waddell,Frances J. Evesson,Madhura Bakshi,Jason R. Pinner,Amanda Charlton,Susan Brammah,Nicole S. Graf,Michael Krivanek,Chee Geap Tay,Nicola C. Foulds,Marjorie A. Illingworth, Neil H. Thomas,Sian Ellard, Ingrid Mazanti,Soo-Mi Park,Courtney E. French, Jennifer Brewster, Gusztav Belteki, Shazia Hoodbhoy, Kieren Allinson,Deepa Krishnakumar,Gareth Baynam, Bradley M. Wood, Michelle Ward,Kayal Vijayakumar, Amber Syed, Archana Murugan,Anirban Majumdar,Ingrid J. Scurr, Miranda P. Splitt, Corina Moldovan,Deepthi C. de Silva, Kumudu Senanayake,Thatjana Gardeitchik,Yvonne Arens,Sandra T. Cooper,Nigel G. Laing,F. Lucy Raymond,Heinz Jungbluth,Erik-Jan Kamsteeg,Adnan Manzur,Susan M. Corley,Gianina Ravenscroft, Marc R. Wilkins,Mark J. Cowley, Mark Pinese,Rahul Phadke,Mark R. Davis,Francesco Muntoni,Emily C. Oates
ANNALS OF NEUROLOGY (2025)
American journal of human geneticsno. 4 (2025): 764-778
Kristine Barlow-Stewart,Eliza Courtney,Mark Cowley, Camron Ebzery,Noemi Fuentes Bolanos,Andrew J Gifford, Hazel Harden,Sarah Josephi-Taylor,Rishi S Kotecha,Marion K Mateos, Mitali Manzur,Chelsea Mayoh, Di Milnes,Jane Nielsen, Matthew O'Connor,Bhavna Padhye, Catherine Pitman, Elizabeth Pitman,Mark Pinese,Catherine Speechly, Ashleigh Sullivan,Toby Trahair,Katherine Tucker,Vanessa Tyrrell,Meera Warby,Andrew Wood,David S Ziegler,Carolyn Johnston
NPJ genomic medicineno. 1 (2025): 27-27
Rocio Rius,Alison G. Compton,Naomi L. Baker,Shanti Balasubramaniam,Stephanie Best,Kaustuv Bhattacharya,Kirsten Boggs,Tiffany Boughtwood,Jeffrey Braithwaite,Drago Bratkovic,Alessandra Bray,Marie-Jo Brion,Jo Burke,Sarah Casauria,Belinda Chong,David Coman,Shannon Cowie,Mark Cowley,Michelle G. de Silva,Martin B. Delatycki,Samantha Edwards,Carolyn Ellaway,Michael C. Fahey,Keri Finlay,Janice Fletcher, Leah E. Frajman,Ann E. Frazier,Velimir Gayevskiy,Roula Ghaoui,Himanshu Goel,Ilias Goranitis,Matilda Haas,Daniella H. Hock,Denise Howting,Matilda R. Jackson,Maina P. Kava,Madonna Kemp,Sarah King-Smith,Nicole J. Lake,Phillipa J. Lamont, Joy Lee,Janet C. Long,Mandi Macshane,Evanthia O. Madelli,Ellenore M. Martin,Justine E. Marum,Tessa Mattiske,Jim Mcgill,Alejandro Metke,Sean Murray,Julie Panetta,Liza K. Phillips,Michael C. J. Quinn, Michael T. Ryan,Sarah Schenscher,Cas Simons, Nicholas Smith, David A. Stroud,Michel C. Tchan, Melanie Tom,Mathew Wallis,Tyson L. Ware,AnneMarie E. Welch,Christine Wools, You Wu,John Christodoulou,David R. Thorburn
Marion 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
Neuro-oncology (2025)
Loretta M. S. Lau,Dong-Anh Khuong-Quang,Chelsea Mayoh,Marie Wong,Paulette Barahona,Pamela Ajuyah,Akanksha Senapati,Sumanth Nagabushan,Alexandra Sherstyuk,Ann-Kristin Altekoester,Noemi A. Fuentes-Bolanos, Veronica Yeung, Ashleigh Sullivan,Natacha Omer,Yonatan Diamond,Sophie Jessop,Lauren Battaglia,Nataliya Zhukova,Louise Cui,Angela Lin,Andrew J. Gifford,Emmy D. G. Fleuren,Luciano Dalla-Pozza,Andrew S. Moore,Seong-Lin Khaw, David D. Eisenstat,Nicholas G. Gottardo,Paul J. Wood,Heather Tapp,Frank Alvaro,Geoffrey McCowage,Wayne Nicholls,Jordan R. Hansford,Neevika Manoharan,Rishi S. Kotecha,Marion K. Mateos,Richard B. Lock,Vanessa Tyrrell,Michelle Haber,Toby N. Trahair,Mark J. Cowley,Paul G. Ekert,Glenn M. Marshall,David S. Ziegler
NATURE MEDICINEno. 7 (2024)
Eliza Courtney,Kate Hetherington,Pamela Ajuyah,Ann-Kristin Altekoester,Megan Rumford, Kimberly Dias,Dianne Sylvester,Noemi Fuentes-Bolanos,Meera Warby,Chelsea Mayoh,Judy Kirk, Ashleigh Sullivan,Marie Wong,Loretta Lau,Dong Anh Khuong Quang,Paul Ekert,Mark Cowley,Claire Wakefield,Vanessa Tyrrell,Michelle Haber,David Ziegler,Katherine Tucker,Paulette Barahona,Mark Pinese
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 572-572
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Lauren M. Brown,Gabor Tax, Pablo Acera Mateos,Antoine de Weck, Steve Foresto, Fatimah Jalud,Teresa Sadras,Pamela Ajuyah,Paulette Barahona,M. Emmy M. Dolman,Marie Wong,Chelsea Mayoh,Mark J. Cowley,Paul G. Ekert
Cancer Researchno. 17_Supplement (2024)
Cancer Researchno. 6_Supplement (2024): 1770-1770
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作者统计
#Papers: 310
#Citation: 15434
H-Index: 52
G-Index: 123
Sociability: 8
Diversity: 3
Activity: 51
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