M
Mark Pinese
Researcher at Garvan Institute of Medical Research
Publications - 83
Citations - 12721
Mark Pinese is an academic researcher from Garvan Institute of Medical Research. The author has contributed to research in topics: Cancer & Pancreatic cancer. The author has an hindex of 33, co-authored 71 publications receiving 9551 citations. Previous affiliations of Mark Pinese include University of New South Wales.
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Journal ArticleDOI
Recurrent SPECC1L-NTRK fusions in pediatric sarcoma and brain tumors.
Dong-Anh Khuong-Quang,Dong-Anh Khuong-Quang,Lauren M Brown,Lauren M Brown,Lauren M Brown,Marie Wong,Chelsea Mayoh,Alexandra Sexton-Oates,Amit Kumar,Amit Kumar,Mark Pinese,Sumanth Nagabushan,Loretta Lau,Loretta Lau,Louise E. Ludlow,Andrew J. Gifford,Michael Rodriguez,Jayesh Desai,Jayesh Desai,Stephen B. Fox,Stephen B. Fox,Michelle Haber,David S. Ziegler,David S. Ziegler,Jordan R. Hansford,Jordan R. Hansford,Glenn M. Marshall,Glenn M. Marshall,Mark J. Cowley,Paul G Ekert +29 more
TL;DR: It is reported here that SPECC1L–NTRK fusions can arise in a range of pediatric cancers and that enforced expression of this fusion is sufficient to promote cytokine-independent survival and proliferation.
Journal ArticleDOI
Translating genomic risk into an early detection strategy for sarcoma.
TL;DR: The recent emergence of powerful genetic technologies has led to astonishing reductions in costs and increased throughput in the clinic, revealing a previously unappreciated and rich landscape of genetic cancer risk.
Posted ContentDOI
The Medical Genome Reference Bank: Whole genomes and phenotype of 2,570 healthy elderly
Mark Pinese,Paul Lacaze,Emma M Rath,Andrew Stone,Marie-Jo Brion,Adam Ameur,Sini Nagpal,Clare Puttick,Husson S,Degrave D,Cristina Tn,Kahl Vfs,Aaron L. Statham,Robyn L. Woods,John J McNeil,Moeen Riaz,Margo Barr,Mark Nelson,Christopher M. Reid,Anne M. Murray,Raj C. Shah,Rory Wolfe,Chantel Fitzsimmons,Heath M. Cairns,Melissa J. Green,V. Carr,Mark J. Cowley,Hilda A. Pickett,Paul A. James,Joseph E. Powell,Warren Kaplan,Greg Gibson,Ulf Gyllensten,Murray J. Cairns,Martin McNamara,Marcel E. Dinger,David Thomas +36 more
TL;DR: The Medical Genome Reference Bank, comprising whole genome sequence and phenotype of 2,570 elderly Australians depleted for cancer, cardiovascular disease, and dementia, provides a broadly applicable reference cohort for clinical genetics and genomic association studies, and for understanding the genetics of healthy ageing.
Journal ArticleDOI
Childhood acute myeloid leukemia shows a high level of germline predisposition
Saumya E. Samaraweera,Paul Po-Shen Wang,Ka Leung Li,Debora A. Casolari,Jinghua Feng,Mark Pinese,Kyaw Ze Ya Maung,Paul Leo,Mark J. Cowley,Kelly Perkins,Amanda Smith,Jonathan Ellis,Amilia Wee,Devendra K Hiwase,Hamish S. Scott,Andreas W. Schreiber,Anna L. Brown,Andrew J. Deans,David M. Ross,Andrew S. Moore,Thomas J. Gonda,Christopher N. Hahn,Richard J D'Andrea +22 more
TL;DR: In this paper, the authors performed a comprehensive analysis of rare germline variants in childhood acute myeloid leukemia (AML) using whole genome sequencing (WGS) and whole exome sequence (WES) data available through the TARGET program.