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Author Details

Marilyn M Li
Children's Hospital of Philadelphia
2000
88
23
PMIDPaper TitleJournal TitlePublished Year
36759776Model performance and interpretability of semi-supervised generative adversarial networks to predict oncogenic variants with unlabeled data.BMC Bioinformatics2023
35604410Multi-institutional study of the frequency, genomic landscape, and outcome of IDH-mutant glioma in pediatrics.Neuro Oncol2023
37645778Alternative splicing of its 5'-UTR limits CD20 mRNA translation and enables resistance to CD20-directed immunotherapies.bioRxiv2023
36655517First-time identification of a KIF5B-NTRK2 fusion in extraventricular neurocytoma.J Neuropathol Exp Neurol2023
36503149Assessments of Somatic Variant Classification Using the Association for Molecular Pathology/American Society of Clinical Oncology/College of American Pathologists Guidelines: A Report from the Association for Molecular Pathology.J Mol Diagn2023
36759776Model performance and interpretability of semi-supervised generative adversarial networks to predict oncogenic variants with unlabeled data.BMC Bioinformatics2023
37259034Correction: Model performance and interpretability of semi-supervised generative adversarial networks to predict oncogenic variants with unlabeled data.BMC Bioinformatics2023
36541551Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR) variants.Neuro Oncol2023
37645778Alternative splicing of its 5'-UTR limits CD20 mRNA translation and enables resistance to CD20-directed immunotherapies.bioRxiv2023
35604410Multi-institutional study of the frequency, genomic landscape, and outcome of IDH-mutant glioma in pediatrics.Neuro Oncol2023
37259034Correction: Model performance and interpretability of semi-supervised generative adversarial networks to predict oncogenic variants with unlabeled data.BMC Bioinformatics2023
36655517First-time identification of a KIF5B-NTRK2 fusion in extraventricular neurocytoma.J Neuropathol Exp Neurol2023
36541551Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR) variants.Neuro Oncol2023
36503149Assessments of Somatic Variant Classification Using the Association for Molecular Pathology/American Society of Clinical Oncology/College of American Pathologists Guidelines: A Report from the Association for Molecular Pathology.J Mol Diagn2023
34338561Mammary-type Myofibroblastoma with Leiomyomatous Differentiation: A Rare Variant with Potential Pitfalls.Int J Surg Pathol2022
36307212Discovery and functional characterization of the oncogenicity and targetability of a novel <i>NOTCH1-ROS1</i> gene fusion in pediatric angiosarcoma.Cold Spring Harb Mol Case Stud2022
36108156Serial Profiling of Circulating Tumor DNA Identifies Dynamic Evolution of Clinically Actionable Genomic Alterations in High-Risk Neuroblastoma.Cancer Discov2022
35836290Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma.Acta Neuropathol Commun2022
36150821Best Practice for Clinical Somatic Variant Interpretation and Reporting.Clin Lab Med2022
35366592Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions.Cancer Genet2022
35794233Defining the spatial landscape of KRAS mutated congenital pulmonary airway malformations: a distinct entity with a spectrum of histopathologic features.Mod Pathol2022
35923098Looking closely at overgrowth: Constitutional mosaicism in PTEN hamartoma tumor syndrome.Clin Genet2022
35544644CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer.Sci Adv2022
34291746Mesenchymal PLAG1 Tumor With PCMTD1-PLAG1 Fusion in an Infant: A New Type of "Plagoma".Am J Dermatopathol2022
34338561Mammary-type Myofibroblastoma with Leiomyomatous Differentiation: A Rare Variant with Potential Pitfalls.Int J Surg Pathol2022
35278038Neuroblastoma and cutaneous angiosarcoma in a child with PTEN hamartoma tumor syndrome.Pediatr Blood Cancer2022
34979564Tiered Somatic Variant Classification Adoption Has Increased Worldwide With Some Practice Differences Based on Location and Institutional Setting.Arch Pathol Lab Med2022
34972035Atypical teratoid rhabdoid tumor in a child with neurofibromatosis type 2: A novel dual diagnosis.Cancer Genet2022
34907337Correction to: Recommendations for future extensions to the HGNC gene fusion nomenclature.Leukemia2022
35232817A novel <i>TP53</i> tandem duplication in a child with Li-Fraumeni syndrome.Cold Spring Harb Mol Case Stud2022
34550633KMT2A-MAML2 rearrangement emerged and regressed during neuroblastoma therapy without leukemia after 12.8-year follow-up.Pediatr Blood Cancer2022
35015563Fusion Oncogenes Are Associated With Increased Metastatic Capacity and Persistent Disease in Pediatric Thyroid Cancers.J Clin Oncol2022
34937317Rational drug combinations with CDK4/6 inhibitors in acute lymphoblastic leukemia.Haematologica2022
35544644CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer.Sci Adv2022
35836290Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma.Acta Neuropathol Commun2022
35794233Defining the spatial landscape of KRAS mutated congenital pulmonary airway malformations: a distinct entity with a spectrum of histopathologic features.Mod Pathol2022
35366592Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions.Cancer Genet2022
36150821Best Practice for Clinical Somatic Variant Interpretation and Reporting.Clin Lab Med2022
36108156Serial Profiling of Circulating Tumor DNA Identifies Dynamic Evolution of Clinically Actionable Genomic Alterations in High-Risk Neuroblastoma.Cancer Discov2022
36307212Discovery and functional characterization of the oncogenicity and targetability of a novel <i>NOTCH1-ROS1</i> gene fusion in pediatric angiosarcoma.Cold Spring Harb Mol Case Stud2022
35923098Looking closely at overgrowth: Constitutional mosaicism in PTEN hamartoma tumor syndrome.Clin Genet2022
35015563Fusion Oncogenes Are Associated With Increased Metastatic Capacity and Persistent Disease in Pediatric Thyroid Cancers.J Clin Oncol2022
34979564Tiered Somatic Variant Classification Adoption Has Increased Worldwide With Some Practice Differences Based on Location and Institutional Setting.Arch Pathol Lab Med2022
35278038Neuroblastoma and cutaneous angiosarcoma in a child with PTEN hamartoma tumor syndrome.Pediatr Blood Cancer2022
34972035Atypical teratoid rhabdoid tumor in a child with neurofibromatosis type 2: A novel dual diagnosis.Cancer Genet2022
34937317Rational drug combinations with CDK4/6 inhibitors in acute lymphoblastic leukemia.Haematologica2022
34907337Correction to: Recommendations for future extensions to the HGNC gene fusion nomenclature.Leukemia2022
35232817A novel <i>TP53</i> tandem duplication in a child with Li-Fraumeni syndrome.Cold Spring Harb Mol Case Stud2022
34550633KMT2A-MAML2 rearrangement emerged and regressed during neuroblastoma therapy without leukemia after 12.8-year follow-up.Pediatr Blood Cancer2022
34291746Mesenchymal PLAG1 Tumor With PCMTD1-PLAG1 Fusion in an Infant: A New Type of "Plagoma".Am J Dermatopathol2022
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Collaborators

Co-authored papers 18
Co-authored papers 14
Children's Hospital of Philadelphia
Co-authored papers 14
Children's Hospital of Philadelphia
Co-authored papers 13
Co-authored papers 11
Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia
Co-authored papers 10
Co-authored papers 10
Ann & Robert H. Lurie Children's Hospital
Co-authored papers 9
Children's Hospital of Philadelphia
Co-authored papers 9
Co-authored papers 8
Co-authored papers 6
Children's Hospital Of Philadelphia
Co-authored papers 6
Co-authored papers 5
Co-authored papers 5
Co-authored papers 5
Maharaja Agrasen Medical College
Co-authored papers 5
Children's Hospital of Philadelphia
Co-authored papers 5
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 5
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 4
Co-authored papers 4
Co-authored papers 4
Co-authored papers 3
Texas Children's Hospital and Baylor College of Medicine
Co-authored papers 3
Children's Hospital Los Angeles
Co-authored papers 3
Children's Hospital of Philadelphia
Co-authored papers 3
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University of Cincinnati College of Medicine
Co-authored papers 3
Co-authored papers 3
Vanderbilt University Medical Center
Co-authored papers 3