Amit Kumar

Recurrent SPECC1L-NTRK fusions in pediatric sarcoma and brain tumors

Dong-Anh Khuong-Quang, Lauren M Brown, Marie Wong, Chelsea Mayoh, Alexandra Sexton-Oates, Amit Kumar, Mark Pinese, Sumanth Nagabushan, Loretta Lau, Louise E Ludlow, Andrew J Gifford, Michael Rodriguez, Jayesh Desai, Stephen B Fox, Michelle Haber, David S Ziegler, Jordan R Hansford, Glenn M Marshall, Mark J Cowley, Paul G Ekert

Journal article  |  2020  |  COLD SPRING HARBOR MOLECULAR CASE STUDIES

The identification of rearrangements driving expression of neurotrophic receptor tyrosine kinase (NTRK) family kinases in tumors h..

PRECISION MEDICINE FOR PAEDIATRIC HIGH-GRADE DIFFUSE MIDLINE GLIOMAS - RESULTS FROM THE ZERO CHILDHOOD CANCER COMPREHENSIVE PRECISION MEDICINE PROGRAM

Khuong-Quang Dong-Anh, Sumanth Nagabushan, Neevika Manoharan, Greg Arndt, Paulette Barahona, Mark J Cowley, Paul G Ekert, Tim Failes, Noemi Fuentes Bolanos, Maely Gauthier, Andrew J Gifford, Michelle Haber, Amit Kumar, Richard B Lock, Glenn M Marshall, Chelsea Mayoh, Emily Mould, Murray D Norris, Anjana Gopalakrishnan, Natacha Omer, et al.

Conference Proceedings  |  2020  |  NEURO-ONCOLOGY

Abstract The Australian Zero Childhood Cancer (ZERO) program aims to assess the feasibility of a comprehensive prec..

Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer

Marie Wong, Chelsea Mayoh, Loretta MS Lau, Dong-Anh Khuong-Quang, Mark Pinese, Amit Kumar, Paulette Barahona, Emilie E Wilkie, Patricia Sullivan, Rachel Bowen-James, Mustafa Syed, Inigo Martincorena, Federico Abascal, Alexandra Sherstyuk, Noemi A Bolanos, Jonathan Baber, Peter Priestley, M Emmy M Dolman, Emmy DG Fleuren, Marie-Emilie Gauthier, et al.

Journal article  |  2020  |  NATURE MEDICINE

The Zero Childhood Cancer Program is a precision medicine program to benefit children with poor-outcome, rare, relapsed or refract..

Molecular targeted therapies and precision medicine for children with neuroblastoma and other refractory malignancies

Michelle Haber, Laura Gamble, Lin Xiao, Ruby Pandher, Klaartje Somers, Jayne Murray, Aaminah Khan, Denise Yu, Laura Franshaw, Mark R Burns, Maria Tsoli, Anahid Ehteda, Anthony Cesare, Aisling O'Connor, Francis Mussai, Carmela de Santo, Paul Cheng, Lioubov Korotchkina, Katerina Gurova, Vanessa Tyrrell, et al.

Conference Proceedings  |  2020  |  CANCER RESEARCH

Prevalence and spectrum of germline mutations in children with high-risk cancer

Paulette Barahona, Alexandra Sherstyuk, Mark Cowley, Paul Ekert, Judy Kirk, Khuong-Quang Dong-Anh, Amit Kumar, Loretta Lau, Chelsea Mayoh, Glenn Marshall, Emily Moud, Tracey O'Brien, Mark Pinese, David Thomas, Vanessa Tyrell, David Ziegler, Michelle Haber, Katherine Tucker, Noemi Auxiliadora Fuentes-Bolanos, Meera Warby

Conference Proceedings  |  2020  |  CANCER RESEARCH

Prevalence and Spectrum of Germline Mutations in Children with High-Risk Cancer

N Fuentes-Bolanos, M Warby, P Barahona, A Sherstyuk, M Cowley, P Ekert, J Kirk, DA Khuong-Quang, K Amit, L Lau, C Mayoh, G Marshall, E Mould, TA O'Brien, M Pinese, D Thomas, V Tyrrell, D Ziegler, M Harber, KM Tucker

Conference Proceedings  |  2019  |  PEDIATRIC BLOOD & CANCER

Zero Childhood Cancer: A comprehensive precision medicine platform for children with high-risk cancer

Emily V Mould, Loretta Lau, Greg Arndt, Paulette Barahona, Mark J Cowley, Paul Ekert, Tim Failes, Jamie Fletcher, Andrew Gifford, Dylan Grebert-Wade, Michelle Haber, Alvin Kamili, Amit Kumar, Richard B Lock, Glenn M Marshall, Chelsea Mayoh, Murray Norris, Tracey O'Brien, Dong Anh Khuong Quang, Patrick Strong, et al.

Conference Proceedings  |  2019  |  CANCER RESEARCH

Comparative analysis of milk microRNA in the therian lineage highlights the evolution of lactation

Christophe Lefevre, Pooja Venkat, Amit Kumar, Vengamanaidu Modepalli, Kevin R Nicholas

Journal article  |  2019  |  REPRODUCTION FERTILITY AND DEVELOPMENT

Milk is a complex secretion that has an important role in mammalian reproduction. It is only recently that sequencing technologies..

CNspector: a web-based tool for visualisation and clinical diagnosis of copy number variation from next generation sequencing

John F Markham, Satwica Yerneni, Georgina L Ryland, Huei San Leong, Andrew Fellowes, Ella R Thompson, Wasanthi De Silva, Amit Kumar, Richard Lupat, Jason Li, Jason Ellul, Stephen Fox, Michael Dickinson, Anthony T Papenfuss, Piers Blombery

Journal article  |  2019  |  Scientific Reports

Next Generation Sequencing is now routinely used in the practice of diagnostic pathology to detect clinically relevant somatic and..

RESULTS OF THE ZERO CHILDHOOD CANCER INTEGRA-TM PRECISION MEDICINE PLATFORM FOR PAEDIATRIC HIGH-RISK BRAIN TUMOURS

Maria Tsoli, Loretta Lau, Paulette Barahona, Chelsea Mayoh, Tim Failes, Marie Wong, Alexandra Sherstyuk, Andrew J Gifford, Amit Kumar, Emily Mould, Caitlin Ung, Ornella Tolhurst, Anjana Gopalakrishnan, Dylan Grebert-Wade, Patrick Strong, Peter Trebilcock, Richard Lock, Vanessa Tyrrell, Toby Trahair, Katherine Tucker, et al.

Conference Proceedings  |  2019  |  NEURO-ONCOLOGY