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Author Details

Mary Shago
The Hospital for Sick Children, University of Toronto
1990
76
27
PMIDPaper TitleJournal TitlePublished Year
3788223045,X/46,XY mosaicism: Clinical manifestations and long term follow-up.Am J Med Genet A2024
36585449The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.Nat Cancer2023
37503586Myeloproliferative Neoplasm Driven by <i>ETV6-ABL1</i> in an Adolescent with Recent History of Burkitt Leukemia.Curr Oncol2023
37001051Genomic landscape of Down syndrome-associated acute lymphoblastic leukemia.Blood2023
35603789Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.JCI Insight2022
35771717Characterization of unusual iAMP21 B-lymphoblastic leukemia (iAMP21-ALL) from the Mayo Clinic and Children's Oncology Group.Genes Chromosomes Cancer2022
32743872TERT promotor variant associated with poor clinical outcome in a patient with novel RBM15-MKL1 fusion-positive pediatric acute megakaryoblastic leukemia.Pediatr Blood Cancer2021
33882154Practice patterns of prenatal and perinatal testing in Canadian cytogenetics laboratories.Prenat Diagn2021
34599879Clinical phenotypes and prognostic features of embryonal tumours with multi-layered rosettes: a Rare Brain Tumor Registry study.Lancet Child Adolesc Health2021
33300192Pediatric fibromyxoid soft tissue tumor with PLAG1 fusion: A novel entity?Genes Chromosomes Cancer2021
31433528Genetic diversity in alveolar soft part sarcoma: A subset contain variant fusion genes, highlighting broader molecular kinship with other MiT family tumors.Genes Chromosomes Cancer2020
32992102First report of t(5;11) KMT2A-MAML1 fusion in de novo infant acute lymphoblastic leukemia.Cancer Genet2020
32302940Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia.Cancer Genet2020
32289278Integrated Molecular and Clinical Analysis of 1,000 Pediatric Low-Grade Gliomas.Cancer Cell2020
31094905MYCN Amplified Relapse Following Resolution of MYCN Nonamplified 4S Neuroblastoma With Placental Involvement: A Case Report and Review of the Literature.J Pediatr Hematol Oncol2019
31319877An aggressive central giant cell granuloma in a pediatric patient: case report and review of literature.J Otolaryngol Head Neck Surg2019
31290759Immunohistochemistry for ATRX Can Miss ATRX Mutations: Lessons From Neuroblastoma.Am J Surg Pathol2019
31425927Masked hypodiploidy: Hypodiploid acute lymphoblastic leukemia (ALL) mimicking hyperdiploid ALL in children: A report from the Children's Oncology Group.Cancer Genet2019
29543677Fluorescent In Situ Hybridization for TP53 in the Diagnosis of Pediatric Osteogenic Sarcoma.Am J Surg Pathol2018
30166462Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors.Science2018
29901569Clinicopathologic Features of a Series of Primary Renal CIC-rearranged Sarcomas With Comprehensive Molecular Analysis.Am J Surg Pathol2018
30806137Aggressive embryonal rhabdomyosarcoma in a 3-month-old boy: A clinical and molecular analysis.Pediatr Hematol Oncol2018
27189222TFE3-Expressing Perivascular Epithelioid Cell Neoplasm (PEComa) of the Sella Turcica.Endocr Pathol2017
28690869The clinical impact of copy number variants in inherited bone marrow failure syndromes.NPJ Genom Med2017
28863456Multiplex Detection of Pediatric Low-Grade Glioma Signature Fusion Transcripts and Duplications Using the NanoString nCounter System.J Neuropathol Exp Neurol2017
27910029Recurrent Cytogenetic Abnormalities in Acute Lymphoblastic Leukemia.Methods Mol Biol2017
27910011Chromosome Preparation for Acute Lymphoblastic Leukemia.Methods Mol Biol2017
27340751Primary Undifferentiated Sarcoma of the Kidney Harboring a Novel Variant of CIC-DUX4 Gene Fusion.Am J Surg Pathol2016
27363808Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.Sci Rep2016
27392123Frequency and outcome of pediatric acute lymphoblastic leukemia with ZNF384 gene rearrangements including a novel translocation resulting in an ARID1B/ZNF384 gene fusion.Pediatr Blood Cancer2016
27450657TFE3-positive renal cell carcinomas are not always Xp11 translocation carcinomas: Report of a case with a TPM3-ALK translocation.Pathol Res Pract2016
25667294BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma.J Clin Oncol2015
26342108Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).J Med Genet2015
25682607The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes.Haematologica2015
24218181Favorable survival and metabolic outcome for children with diencephalic syndrome using a radiation-sparing approach.J Neurooncol2014
24839957CNS-PNETs with C19MC amplification and/or LIN28 expression comprise a distinct histogenetic diagnostic and therapeutic entity.Acta Neuropathol2014
24357149Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.Am J Med Genet A2014
23292925Molecular testing prognostic of low risk in epithelioid uveal melanoma in a child.Br J Ophthalmol2013
21989350Mammary analog secretory carcinoma of salivary gland origin with the ETV6 gene rearrangement by FISH: expanded morphologic and immunohistochemical spectrum of a recently described entity.Am J Surg Pathol2012
22888040SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.Am J Med Genet A2012
22639462Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.Am J Med Genet A2012
2059876013q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature review.Int J Cardiol2011
21918902Cribriform neuroepithelial tumour: novel clinicopathological, ultrastructural and cytogenetic findings.Acta Neuropathol2011
21376145Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6.Eur J Med Genet2011
20021220Lymphadenoma: case report of a rare salivary gland tumor in childhood.Pediatr Dev Pathol2010
21056402A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.Am J Hum Genet2010
20142599Universal poor survival in children with medulloblastoma harboring somatic TP53 mutations.J Clin Oncol2010
19213033Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients.Am J Med Genet A2009
19837261Detailed cytogenetic and array analysis of pediatric primitive sarcomas reveals a recurrent CIC-DUX4 fusion gene event.Cancer Genet Cytogenet2009
19340852Splenic hamartoma in a child in the era of PET-CT.Pediatr Blood Cancer2009
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Collaborators

David Malkin
Hospital for Sick Children
Co-authored papers 11
Cynthia Hawkins
The Hospital for Sick Children
Co-authored papers 10
Uri Tabori
Co-authored papers 9
Stephen W Scherer
The Hospital for Sick Children
Co-authored papers 9
Eric Bouffet
The Hospital for Sick Children
Co-authored papers 7
Annie Huang
Arthur and Sonia Labatt Brain Tumor Research Centre, Hospital for Sick Children
Co-authored papers 6
Peter B Dirks
The Hospital for Sick Children, University of Toronto
Co-authored papers 5
Christian R Marshall
Co-authored papers 4
Michael D Taylor
The Hospital for Sick Children
Co-authored papers 4
Vijay Ramaswamy
Hospital for Sick Children
Co-authored papers 4
James T Rutka
Hospital for Sick Children
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William Halliday
University of Toronto
Co-authored papers 3
Nataliya Zhukova
Co-authored papers 3
Winnie Lo
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Beth A Pitel
Mayo Clinic
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Ralph A Zirngibl
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Yassmine Akkari
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Meenakshi Devidas
St Jude Children's Research Hospital
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Stephen P Hunger
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Julie M Gastier-Foster
Baylor College of Medicine
Co-authored papers 2
Sharon Abish
McGill University
Co-authored papers 2
Jeremy A Squire
University of Sao Paulo
Co-authored papers 2
Linda Z Penn
University of Toronto
Co-authored papers 2
Lillian Sung
The Hospital for Sick Children
Co-authored papers 2
Marc Remke
and Clinical Immunology, Heinrich Heine University, University Hospital Dusseldorf
Co-authored papers 2
Fady M Mikhail
University of Alabama at Birmingham
Co-authored papers 2
Siraj M Ali
Foundation Medicine
Co-authored papers 2
Mehdi Zarrei
Co-authored papers 2
Mignon L Loh
University of Washington
Co-authored papers 2
Cristina R Antonescu
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Release 1.2