A. Shlien

C. Ackerley, A. Shlien, D. Malkin, 2010, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

Bin Tean Teh, Andrew Menzies, Keiran Raine, 2014, eLife.

Clonal hematopoiesis and therapy-related myeloid neoplasms following neuroblastoma treatment.

S. Behjati, A. Shlien, A. Godfrey, 2021, Blood.

DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma

W. Foulkes, A. Shlien, J. Wasserman, 2018, The Journal of clinical endocrinology and metabolism.

Metabolic Diapause in Pancreatic β-Cells Expressing a Gain-of-function Mutant of the Forkhead Protein Foxo1*

D. Accili, A. Shlien, J. Buteau, 2007, Journal of Biological Chemistry.

NIHMS662581-supplement-Supplementary data

Pardeep Kumar, Elizabeth Anderson, Jon W. Teague, 2016 .

Mutation and Microsatellite Burden Predict Response to PD-1 Inhibition in Children with Germline DNA Replication Repair Deficiency

K. Cole, T. Pugh, C. Hawkins, 2021 .

Clinical and biological implications of driver mutations in myelodysplastic syndromes.

M. Stratton, P. Campbell, S. O'meara, 2013, Blood.

TMBur: a distributable tumor mutation burden approach for whole genome sequencing

E. Pleasance, M. Marra, Steven J. M. Jones, 2022, BMC Medical Genomics.

An international working group consensus report for the prioritization of molecular biomarkers for Ewing sarcoma

C. Antonescu, B. Crompton, E. Álava, 2022, npj Precision Oncology.

Translational Childhood Cancer Genomics: The Future Is Now.

A. Shlien, D. Malkin, U. Tabori, 2016, JAMA oncology.

Genomic Microsatellite Signatures Identify Germline Mismatch Repair Deficiency and Risk of Cancer Onset

W. Foulkes, A. Shlien, R. McWilliams, 2022, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes.

Katherine M. Tucker, P. Nathan, D. Johnston, 2021, JAMA oncology.

Mutations in the RAS/MAPK pathway drive replication repair deficient hypermutated tumors and confer sensitivity to MEK inhibition.

Trevor J Pugh, T. Pugh, C. Hawkins, 2021, Cancer discovery.

Non‐rhabdomyosarcoma soft tissue sarcomas diagnosed in patients at a young age. An overview of clinical, pathological, and molecular findings

S. Hopyan, A. Shlien, Bailey Gallinger, 2021, Pediatric blood & cancer.

Failure of Romidepsin to Treat Relapsed/Refractory Peripheral T-Cell Lymphoma in Children: A Single-center Experience.

A. Shlien, D. Malkin, J. Bartram, 2020, Journal of pediatric hematology/oncology.

Single-cell diploid Hi-C reveals the role of spatial aggregations in complex rearrangements and KMT2A fusions in leukemia

A. Shlien, F. Wen, Xingliang Zhang, 2022, Genome biology.

Widespread hypertranscription in aggressive human cancers

F. Notta, S. Gallinger, M. Hellmann, 2022, Science advances.

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations

Arun K. Ramani, S. Scherer, M. Somerville, 2022, Nature Cancer.

Vaginal metastases of Wilms' Tumor in a pediatric patient: a rare case.

A. Shlien, S. Sawyer, A. Villani, 2023, Journal of pediatric and adolescent gynecology.

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma

Daniel Baumhoer, Inigo Martincorena, Roberto Tirabosco, 2017, Nature Communications.

DNA polymerase and mismatch repair exert distinct microsatellite instability signatures in normal and malignant human cells.

G. Getz, K. Cole, T. Kunkel, 2020, Cancer discovery.

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

Roland Arnold, Richard G Grundy, Daniele Merico, 2015, Nature Genetics.

Processed pseudogenes acquired somatically during cancer development

Andrew Menzies, Adam P. Butler, Jon W. Teague, 2014, Nature Communications.

Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes

Andrew Menzies, Adam P. Butler, Jon W. Teague, 2014, Science.

The genetic heterogeneity and mutational burden of engineered melanomas in zebrafish models

Yves Moreau, Jeroen de Ridder, Keiran Raine, 2013, Genome Biology.

Lineage-defined leiomyosarcoma subtypes emerge years before diagnosis and determine patient survival

J. D. Thompson, J. Thompson, D. Durocher, 2021, Nature communications.

Diverse Oncogenic Fusions and Distinct Gene Expression Patterns Define the Genomic Landscape of Pediatric Papillary Thyroid Carcinoma

A. Shlien, D. Malkin, F. Fuligni, 2021, Cancer Research.

BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma.

D. Merico, M. Shago, N. Alon, 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.

D. Merico, Z. Cohen, C. Hawkins, 2016, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Cooperation of cancer drivers with regulatory germline variants shapes clinical outcomes

F. Westermann, M. Gymrek, U. Dirksen, 2019, Nature Communications.

Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia.

P. Campbell, A. Shlien, A. Warren, 2013, Blood.

Comprehensive profiling of mRNA splicing indicates that GC content signals altered cassette exon inclusion in Ewing sarcoma

N. Caplen, A. Üren, A. Shlien, 2022, NAR cancer.

A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo

John Huddleston, K. Nakatani, A. Shlien, 2020, Nature Genetics.

Slipped-CAG DNA binding small molecule induces trinucleotide repeat contractions in vivo

E. Eichler, John Huddleston, K. Nakatani, 2020, Nature Genetics.

Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors

Nicola D. Roberts, Matthew D. Young, S. Scherer, 2018, Science.

Cancers from Novel Pole-Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade

C. Hawkins, Alberto Martin, Z. Pursell, 2020, Cancer Research.

Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping.

Jinchuan Xing, Adam Shlien, L. Jorde, 2010, Genomics.

Tubio retrotransposition in cancer genomes Extensive transduction of nonrepetitive DNA mediated by L 1

M. Stratton, P. Futreal, P. Campbell, 2014 .

Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency

K. Cole, T. Pugh, C. Hawkins, 2022, Nature Medicine.

Cellular mRNA signals in human kidney tumors

Matthew D. Young, T. Margaritis, F. Holstege, 2020 .

BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma

J. Maris, A. Shlien, S. Diskin, 2023, bioRxiv.

Signatures of copy number alterations in human cancer

C. Steele, P. Van Loo, L. Alexandrov, 2021, Nature.

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.

J. Beyene, J. Schiffman, A. Shlien, 2011, The Lancet. Oncology.

Single cell derived mRNA signals across human kidney tumors

Matthew D. Young, T. Margaritis, F. Holstege, 2020, Nature Communications.

Combining exome and gene expression datasets in one graphical model of disease to empower the discovery of disease mechanisms pdf

Anna Goldenberg, Aziz M. Mezlini, Fabio Fuligni, 2015, ArXiv.

A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.

M. Shago, P. Hainaut, L. Hudgins, 2010, American journal of human genetics.

Lineage-defined leiomyosarcoma subtypes emerge years before diagnosis and determine patient survival

J. D. Thompson, J. Thompson, D. Durocher, 2021, Nature Communications.

Whole exome sequencing of adenoid cystic carcinoma.

M. Stratton, P. Futreal, P. Campbell, 2013, The Journal of clinical investigation.

Excessive genomic DNA copy number variation in the Li–Fraumeni cancer predisposition syndrome

Uri Tabori, Christian R Marshall, Lars Feuk, 2008, Proceedings of the National Academy of Sciences.

Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis

V. Rotter, M. Gerstung, L. Alexandrov, 2023, Nature Communications.

Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency

K. Cole, T. Pugh, C. Hawkins, 2022, Nature medicine.

Molecular Characterization of Choroid Plexus Tumors Reveals Novel Clinically Relevant Subgroups

Nada Jabado, Uri Tabori, Sanaa Choufani, 2014, Clinical Cancer Research.

Life without mismatch repair

M. Stratton, P. Campbell, M. Gerstung, 2021, bioRxiv.

Recurrent focal copy-number changes and loss of heterozygosity implicate two noncoding RNAs and one tumor suppressor gene at chromosome 3q13.31 in osteosarcoma.

David Malkin, Ana Novokmet, Adam Shlien, 2010, Cancer research.

Response to Immune Checkpoint Inhibition in Two Patients with Alveolar Soft-Part Sarcoma

B. Dickson, A. Shlien, S. Salah, 2018, Cancer Immunology Research.

Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome

David Gacquer, Peter J. Campbell, Christine Desmedt, 2015, bioRxiv.

TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors.

N. Alon, C. Hawkins, A. Shlien, 2010, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Ethical and Analytic Challenges With Genomic Sequencing of Relapsed Hematologic Malignancies Following Allogeneic Hematopoietic Stem-Cell Transplantation.

B. Knoppers, D. Allan, A. Shlien, 2021, JCO precision oncology.

A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL

A. Shlien, G. Zadeh, A. Fleming, 2022, Brain Tumor Pathology.

New variants at 10q26 and 15q21 are associated with aggressive prostate cancer in a genome-wide association study from a prostate biopsy screening cohort

M. Kattan, K. Siminovitch, J. Trachtenberg, 2011, Cancer biology & therapy.

The driver landscape of sporadic chordoma

Matthew D. Young, M. Stratton, T. Nielsen, 2017, Nature Communications.

Cellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failure.

J. Dick, A. Shlien, V. Breakey, 2019, JCI insight.

Cellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failure.

J. Dick, A. Shlien, V. Breakey, 2019, JCI insight.

DNA methylation signature is prognostic of choroid plexus tumor aggressiveness

Andrei L. Turinsky, R. Weksberg, M. Brudno, 2019, Clinical Epigenetics.

Aggressive embryonal rhabdomyosarcoma in a 3-month-old boy: A clinical and molecular analysis

M. Shago, S. Hopyan, A. Shlien, 2018, Pediatric hematology and oncology.

Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma

A. Goldenberg, J. Khan, Jun S. Wei, 2021, JCO precision oncology.

mTOR Inhibitors as a New Therapeutic Strategy in Treatment Resistant Epilepsy in Hemimegalencephaly: A Case Report

A. Shlien, M. Connolly, C. Dunham, 2018, Journal of child neurology.

Correction to: DNA methylation signature is prognostic of choroid plexus tumor aggressiveness

Andrei L. Turinsky, R. Weksberg, M. Brudno, 2019, Clinical Epigenetics.

Diagnostic classification of childhood cancer using multiscale transcriptomics

S. Behjati, B. Dickson, M. Cowley, 2023, Nature Medicine.

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

S. Scherer, C. Marshall, R. Yuen, 2017, Neurology: Genetics.

Trio RNA sequencing in a cohort of medically complex children

Michael D. Wilson, Arun K. Ramani, C. Marshall, 2023, American journal of human genetics.

Optimized knock-in of point mutations in zebrafish using CRISPR/Cas9

Sergey V. Prykhozhij, A. Shlien, J. Berman, 2018, Nucleic acids research.

The driver landscape of sporadic chordoma

Matthew D. Young, M. Stratton, T. Nielsen, 2017, Nature Communications.

Long read nanopore sequencing for detection of HLA and CYP2D6 variants and haplotypes.

Gary D Bader, Adam Shlien, T. Paton, 2015, F1000Research.

Optimized knock-in of point mutations in zebrafish using CRISPR/Cas9

Sergey V. Prykhozhij, A. Shlien, J. Berman, 2018, Nucleic acids research.

Supplementary file 1.

Jack A. Taylor, M. Stratton, D. Hayes, 2011 .

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden

James X. Sun, L. Garraway, V. Miller, 2017, Genome Medicine.

First report of t(5;11) KMT2A-MAML1 fusion in de novo infant acute lymphoblastic leukemia.

M. Shago, A. Shlien, J. Whitlock, 2020, Cancer genetics.

Immune signature and molecular profiling of radiation-induced sarcoma (RIS).

B. Dickson, B. O'Sullivan, A. Shlien, 2019, Journal of Clinical Oncology.

Cooperation of dominant oncogenes with regulatory germline variants shapes clinical outcomes in childhood cancer

F. Westermann, M. Gymrek, U. Dirksen, 2018 .

Myeloproliferative Neoplasm Driven by ETV6-ABL1 in an Adolescent with Recent History of Burkitt Leukemia

M. Shago, A. Shlien, D. Malkin, 2023, Current oncology.

Successful optimization of CRISPR/Cas9-mediated defined point mutation knock-in using allele-specific PCR assays in zebrafish

Sergey V. Prykhozhij, A. Shlien, J. Berman, 2017, bioRxiv.

TERT promotor variant associated with poor clinical outcome in a patient with novel RBM15‐MKL1 fusion‐positive pediatric acute megakaryoblastic leukemia

M. Shago, A. Shlien, D. Malkin, 2020, Pediatric blood & cancer.

Abstract 5413: Terry Fox PRecision Oncology For Young peopLE (PROFYLE): A Canadian precision medicine program for children, adolescents and young adults with hard-to-treat cancer

Steven J. M. Jones, P. Sorensen, D. Eisenstat, 2020 .

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.

M. Stratton, P. Campbell, P. Stephens, 2011, The New England journal of medicine.

Supplementary file 3.

Jack A. Taylor, M. Stratton, D. Hayes, 2014 .

BI-21BRAF MUTATION AND CDKN2A DELETIONS DEFINE A CLINICALLY DISTINCT SUBGROUP OF CHILDHOOD SECONDARY HIGH GRADE GLIOMA

D. Merico, M. Shago, J. Rutka, 2014 .

Supplementary file 2.

Jack A. Taylor, D. Hayes, P. Futreal, 2014 .

Supplementary file 1.

Jack A. Taylor, D. Hayes, P. Futreal, 2014 .

Long read nanopore sequencing for detection of and HLA variants and haplotypes CYP 2 D 6

Gary D Bader, T. Paton, A. Shlien, 2015 .

Keratin 19: a key role player in the invasion of human hepatocellular carcinomas

Jack A. Taylor, D. Hayes, P. Futreal, 2013, Gut.

PHAGOCYTES, GRANULOCYTES, AND MYELOPOIESIS Aberrant 3oligoadenylation of spliceosomal U6 small nuclear RNAin poikiloderma with neutropenia

P. Campbell, A. Shlien, A. Warren, 2017 .

Explosive mutation accumulation triggered by heterozygous human Pol ε proofreading-deficiency is driven by suppression of mismatch repair

Z. Pursell, Nicholas Light, A. Shlien, 2018, eLife.

Long read nanopore sequencing for detection of HLA and CYP2D6 variants and haplotypes

Gary D Bader, T. Paton, A. Shlien, 2015, F1000Research.

Supplementary file 1.

Jack A. Taylor, D. Hayes, P. Futreal, 2011 .

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

S. Scherer, D. Merico, P. Nathan, 2015, Nature Genetics.

Supplementary File 4

Jack A. Taylor, D. Hayes, P. Futreal, 2014 .

Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes

A. Børresen-Dale, M. Stratton, M. J. van de Vijver, 2014, Science.

Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.

K. Cole, D. Gass, A. Shlien, 2024, The Lancet. Oncology.

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

A. Chan, G. Pellecchia, A. Shlien, 2017, Neurology: Genetics.

Recurrent focal copy-number changes and loss of heterozygosity implicate two noncoding RNAs and one tumor suppressor gene at chromosome 3q13.31 in osteosarcoma.

A. Shlien, D. Malkin, P. Ray, 2010, Cancer research.

Supplementary File 4

Jack A. Taylor, D. Hayes, P. Futreal, 2014 .