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Author Details

Mark J Cowley
Children's Cancer Institute, Lowy Cancer Research Centre
2006
147
44
PMIDPaper TitleJournal TitlePublished Year
36867694Memory of stochastic single-cell apoptotic signaling promotes chemoresistance in neuroblastoma.Sci Adv2023
37523146High-Throughput Drug Screening of Primary Tumor Cells Identifies Therapeutic Strategies for Treating Children with High-Risk Cancer.Cancer Res2023
37511646Precision Medicine Is Changing the Roles of Healthcare Professionals, Scientists, and Research Staff: Learnings from a Childhood Cancer Precision Medicine Trial.J Pers Med2023
37419908Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.NPJ Genom Med2023
37382186Parents' expectations, preferences, and recall of germline findings in a childhood cancer precision medicine trial.Cancer2023
37013636A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer.Genome Med2023
37198692Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.Genome Biol2023
36882456Histone H3-wild type diffuse midline gliomas with H3K27me3 loss are a distinct entity with exclusive EGFR or ACVR1 mutation and differential methylation of homeobox genes.Sci Rep2023
36810896Unusual PDGFRB fusion reveals novel mechanism of kinase activation in Ph-like B-ALL.Leukemia2023
36937401<i>In vivo</i> loss of tumorigenicity in a patient-derived orthotopic xenograft mouse model of ependymoma.Front Oncol2023
36932241Diagnostic classification of childhood cancer using multiscale transcriptomics.Nat Med2023
34471258Whole-genome sequencing facilitates patient-specific quantitative PCR-based minimal residual disease monitoring in acute lymphoblastic leukaemia, neuroblastoma and Ewing sarcoma.Br J Cancer2022
35650277Measurable residual disease analysis in paediatric acute lymphoblastic leukaemia patients with ABL-class fusions.Br J Cancer2022
35409265Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.Int J Mol Sci2022
35641312Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.Neurology2022
35393742Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.Am J Med Genet A2022
35851845Glutamine addiction promotes glucose oxidation in triple-negative breast cancer.Oncogene2022
36776527Unscrambling cancer genomes via integrated analysis of structural variation and copy number.Cell Genom2022
35970915Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.Eur J Hum Genet2022
36030551Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.Hum Mutat2022
36251721RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL).PLoS Genet2022
33437033Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.Eur J Hum Genet2021
33575671Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus.Med2021
33847015Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.Hum Mutat2021
33924034Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.Genes (Basel)2021
33918978A G316A Polymorphism in the Ornithine Decarboxylase Gene Promoter Modulates MYCN-Driven Childhood Neuroblastoma.Cancers (Basel)2021
33580196Efficacy of MEK inhibition in a recurrent malignant peripheral nerve sheath tumor.NPJ Precis Oncol2021
33632298ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.Genome Med2021
34521114Childhood acute myeloid leukemia shows a high level of germline predisposition.Blood2021
34101287Genome sequencing in congenital cataracts improves diagnostic yield.Hum Mutat2021
34001747Spitz Melanoma of Childhood With A Novel Promoter Hijacking Anaplastic Lymphoma Kinase (C2orf42-ALK) Rearrangement.Am J Dermatopathol2021
33310889Targeted Therapy of <i>TERT</i>-Rearranged Neuroblastoma with BET Bromodomain Inhibitor and Proteasome Inhibitor Combination Therapy.Clin Cancer Res2021
32457410Molecular patterns in salivary duct carcinoma identify prognostic subgroups.Mod Pathol2020
31974348The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.Nat Commun2020
33144287Recurrent <i>SPECC1L-NTRK</i> fusions in pediatric sarcoma and brain tumors.Cold Spring Harb Mol Case Stud2020
33053751A Novel Orthotopic Patient-Derived Xenograft Model of Radiation-Induced Glioma Following Medulloblastoma.Cancers (Basel)2020
33159883RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.Am J Hum Genet2020
32652677Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).Hum Mutat2020
32675551Precision Oncology in Surgery: Patient Selection for Operable Pancreatic Cancer.Ann Surg2020
32639540Mutations in the exocyst component EXOC2 cause severe defects in human brain development.J Exp Med2020
32313153The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.Genet Med2020
32527287Proteogenomic analysis of Inhibitor of Differentiation 4 (ID4) in basal-like breast cancer.Breast Cancer Res2020
32499604Revealing hidden genetic diagnoses in the ocular anterior segment disorders.Genet Med2020
32499442MTOR signaling orchestrates stress-induced mutagenesis, facilitating adaptive evolution in cancer.Science2020
32238360Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes.Cancer Discov2020
30556619Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.Hum Mutat2019
31731261Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.Parkinsonism Relat Disord2019
31752325Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> Variants.J Clin Med2019
31745186Development and validation of a targeted gene sequencing panel for application to disparate cancers.Sci Rep2019
30078120High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.Cerebellum2019
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Collaborators

The University of Sydney
Co-authored papers 36
Prince of Wales Hospital
Co-authored papers 23
The University of Melbourne
Co-authored papers 17
QIMR Berghofer Medical Research Institute
Co-authored papers 17
Garvan Institute of Medical Research and The Kinghorn Cancer Centre
Co-authored papers 16
Children's Cancer Institute, Lowy Cancer Research Centre
Co-authored papers 15
University of Melbourne, The Royal Children's Hospital
Co-authored papers 14
Co-authored papers 13
QIMR Berghofer Medical Research Institute
Co-authored papers 12
QIMR Berghofer Medical Research Institute
Co-authored papers 11
Co-authored papers 11
School of Clinical Medicine
Co-authored papers 11
Children's Cancer Institute, Lowy Cancer Research Centre
Co-authored papers 11
QIMR Berghofer Medical Research Institute
Co-authored papers 9
Lowy Cancer Research Centre, Children's Cancer Institute
Co-authored papers 9
The University of Queensland Diamantina Institute, The University of Queensland
Co-authored papers 9
Adelaide Medical School, The University of Adelaide
Co-authored papers 9
Co-authored papers 8
Queensland University of Technology
Co-authored papers 6
Co-authored papers 6
Co-authored papers 5
Co-authored papers 4
Baylor College of Medicine
Co-authored papers 4
Baylor College of Medicine
Co-authored papers 4
The University of Texas MD Anderson Cancer Center
Co-authored papers 4
Co-authored papers 4
Children's Cancer Institute, Lowy Cancer Research Centre
Co-authored papers 3
King Faisal Specialist Hospital and Research Center
Co-authored papers 3
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