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Genetics

D-Index
57
Citations
19393
World Ranking
3366
National Ranking
114

Overview

Mark J. Cowley is affiliated with the Garvan Institute of Medical Research in Australia. Their research spans significant areas within biochemistry, genetics, molecular biology, and medicine, with a particular emphasis on molecular biology and cancer-related fields.

Their main fields of study include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Within these domains, their subfields of study highlight a focus on:

  • Molecular Biology
  • Genetics
  • Cancer Research
  • Neurology
  • Oncology

Their research topics cover areas such as:

  • Genomics and Rare Diseases
  • Cancer Genomics and Diagnostics
  • Neuroblastoma Research and Treatments
  • Glioma Diagnosis and Treatment
  • RNA modifications and cancer
  • Mitochondrial Function and Pathology
  • Metabolism and Genetic Disorders

Mark J. Cowley has contributed to a variety of research articles. Selected recent papers include:

  • "Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer" (2020, Nature Medicine)
  • "Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes" (2020, Cancer Discovery)
  • "HNF4A and GATA6 Loss Reveals Therapeutically Actionable Subtypes in Pancreatic Cancer" (2020, Cell Reports)
  • "Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis" (2022, European Journal of Human Genetics)
  • "MTOR signaling orchestrates stress-induced mutagenesis, facilitating adaptive evolution in cancer" (2020, Science)

Frequent coauthors who collaborate with Mark J. Cowley include:

  • Chelsea Mayoh
  • Marie Wong
  • Loretta M. S. Lau
  • David S. Ziegler
  • Paul G. Ekert

The scientist's publications often appear in notable venues such as:

  • Cancer Research
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Neuro-Oncology
  • Human Mutation
  • npj Genomic Medicine

Best Publications

  • Genomic analyses identify molecular subtypes of pancreatic cancer

    Bailey P;Chang Dk;Nones K;Nones K;Johns Al

  • Whole genomes redefine the mutational landscape of pancreatic cancer.

    Nicola Waddell;Marina Pajic;Ann Marie Patch;David K. Chang

  • Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

    Andrew V. Biankin;Andrew V. Biankin;Andrew V. Biankin;Nicola Waddell;Karin S. Kassahn;Marie Claude Gingras

  • Whole-genome landscape of pancreatic neuroendocrine tumours

    Aldo Scarpa;David K. Chang;Katia Nones;Katia Nones;Vincenzo Corbo

  • PINA v2.0: mining interactome modules

    Mark J. Cowley;Mark Pinese;Karin S. Kassahn;Nic Waddell

  • Infant high grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes

    Matthew Clarke;Alan Mackay;Britta Ismer;Britta Ismer;Jessica Chiara Pickles

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

    Marie Wong;Marie Wong;Chelsea Mayoh;Loretta M.S. Lau;Loretta M.S. Lau;Dong Anh Khuong-Quang

  • Inheritance of coronary artery disease in men: an analysis of the role of the Y chromosome

    Fadi J. Charchar;Lisa D. S. Bloomer;Timothy A. Barnes;Mark J. Cowley

  • Genome‐wide DNA methylation patterns in pancreatic ductal adenocarcinoma reveal epigenetic deregulation of SLIT‐ROBO, ITGA2 and MET signaling

    Katia Nones;Nic Waddell;Sarah Song;Ann Marie Patch

  • Next-Generation Sequencing and Emerging Technologies.

    Kishore R. Kumar;Kishore R. Kumar;Kishore R. Kumar;Mark J. Cowley;Mark J. Cowley;Ryan L. Davis;Ryan L. Davis

  • Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents

    Jane Merlevede;Nathalie Droin;Tingting Qin;Kristen Meldi

  • Hypermutation In Pancreatic Cancer

    Jeremy L Humphris;Ann Marie Patch;Ann Marie Patch;Katia Nones;Katia Nones;Peter J Bailey;Peter J Bailey

  • Consolidation of the cancer genome into domains of repressive chromatin by long-range epigenetic silencing (LRES) reduces transcriptional plasticity

    Marcel W. Coolen;Clare Stirzaker;Jenny Z. Song;Aaron L. Statham

  • Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

    Lisa J Ewans;Lisa J Ewans;Deborah Schofield;Deborah Schofield;Deborah Schofield;Rupendra Shrestha;Ying Zhu

  • Histomolecular Phenotypes and Outcome in Adenocarcinoma of the Ampulla of Vater

    David K. Chang;Nigel B. Jamieson;Nigel B. Jamieson;Amber L. Johns;Christopher J. Scarlett;Christopher J. Scarlett

  • Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy

    Richard D. Bagnall;Jodie Ingles;Marcel E. Dinger;Mark J. Cowley

  • Differential regulation of the Let-7 family of microRNAs in CD4+ T cells alters IL-10 expression.

    Sanjay Swaminathan;Sanjay Swaminathan;Kazuo Suzuki;Nabila Seddiki;Nabila Seddiki;Warren Kaplan

  • Normalization and Statistical Analysis of Quantitative Proteomics Data Generated by Metabolic Labeling

    Lily Ting;Mark J. Cowley;Seah Lay Hoon;Michael Guilhaus

  • Cold adaptation in the marine bacterium, Sphingopyxis alaskensis, assessed using quantitative proteomics

    Lily Ting;Timothy J. Williams;Mark J. Cowley;Federico M. Lauro

  • The influence of genetic variation on gene expression

    Rohan B.H. Williams;Eva K.F. Chan;Mark J. Cowley;Peter F.R. Little

Frequent Co-Authors

Marcel E. Dinger
Marcel E. Dinger University of Sydney
Tony Roscioli
Tony Roscioli University of New South Wales
Andrew V. Biankin
Andrew V. Biankin University of Glasgow
Anthony J. Gill
Anthony J. Gill University of Sydney
Marina Pajic
Marina Pajic Garvan Institute of Medical Research
Sean M. Grimmond
Sean M. Grimmond University of Melbourne
David W. P. Thomas
David W. P. Thomas University of Nottingham
Paul G Ekert
Paul G Ekert University of New South Wales
James G. Kench
James G. Kench Royal Prince Alfred Hospital
Nicola Waddell
Nicola Waddell QIMR Berghofer Medical Research Institute

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