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Author Details

Mariarita Santi
Children's Hospital of Philadelphia
1997
118
36
PMIDPaper TitleJournal TitlePublished Year
36271929Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1.Acta Neuropathol2023
36335802The children's brain tumor network (CBTN) - Accelerating research in pediatric central nervous system tumors through collaboration and open science.Neoplasia2023
36271929Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1.Acta Neuropathol2023
37595577Perinatal hypoxic-ischemic brain injury: What's behind the "ribbon effect"?J Neuropathol Exp Neurol2023
37218333ZFTA-fused supratentorial ependymoma with a novel fusion partner, DUX4.J Neuropathol Exp Neurol2023
36655517First-time identification of a KIF5B-NTRK2 fusion in extraventricular neurocytoma.J Neuropathol Exp Neurol2023
37081608Pediatric phase 2 trial of a WEE1 inhibitor, adavosertib (AZD1775), and irinotecan for relapsed neuroblastoma, medulloblastoma, and rhabdomyosarcoma.Cancer2023
37197736Diffuse leptomeningeal glioneuronal tumor in a child masquerading as an intramedullary spinal pilocytic astrocytoma.Neurooncol Adv2023
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
37492101OpenPBTA: The Open Pediatric Brain Tumor Atlas.Cell Genom2023
37492101OpenPBTA: The Open Pediatric Brain Tumor Atlas.Cell Genom2023
37595577Perinatal hypoxic-ischemic brain injury: What's behind the "ribbon effect"?J Neuropathol Exp Neurol2023
37218333ZFTA-fused supratentorial ependymoma with a novel fusion partner, DUX4.J Neuropathol Exp Neurol2023
37081608Pediatric phase 2 trial of a WEE1 inhibitor, adavosertib (AZD1775), and irinotecan for relapsed neuroblastoma, medulloblastoma, and rhabdomyosarcoma.Cancer2023
37197736Diffuse leptomeningeal glioneuronal tumor in a child masquerading as an intramedullary spinal pilocytic astrocytoma.Neurooncol Adv2023
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
36335802The children's brain tumor network (CBTN) - Accelerating research in pediatric central nervous system tumors through collaboration and open science.Neoplasia2023
34702771Clinically Tractable Outcome Prediction of Non-WNT/Non-SHH Medulloblastoma Based on TPD52 IHC in a Multicohort Study.Clin Cancer Res2022
35973991Single cell spatial analysis reveals the topology of immunomodulatory purinergic signaling in glioblastoma.Nat Commun2022
35836290Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma.Acta Neuropathol Commun2022
35587280Recurrent ACVR1 mutations in posterior fossa ependymoma.Acta Neuropathol2022
35803925Pro-inflammatory cytokines mediate the epithelial-to-mesenchymal-like transition of pediatric posterior fossa ependymoma.Nat Commun2022
33872110A Practical Approach to the Evaluation and Diagnosis of Pediatric CNS Tumors.Pediatr Dev Pathol2022
33872106Pediatric Glial Tumors.Pediatr Dev Pathol2022
34972035Atypical teratoid rhabdoid tumor in a child with neurofibromatosis type 2: A novel dual diagnosis.Cancer Genet2022
35168420Ependymal Tumors.Pediatr Dev Pathol2022
34702771Clinically Tractable Outcome Prediction of Non-WNT/Non-SHH Medulloblastoma Based on TPD52 IHC in a Multicohort Study.Clin Cancer Res2022
35587280Recurrent ACVR1 mutations in posterior fossa ependymoma.Acta Neuropathol2022
35803925Pro-inflammatory cytokines mediate the epithelial-to-mesenchymal-like transition of pediatric posterior fossa ependymoma.Nat Commun2022
35836290Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma.Acta Neuropathol Commun2022
35973991Single cell spatial analysis reveals the topology of immunomodulatory purinergic signaling in glioblastoma.Nat Commun2022
33872110A Practical Approach to the Evaluation and Diagnosis of Pediatric CNS Tumors.Pediatr Dev Pathol2022
33872106Pediatric Glial Tumors.Pediatr Dev Pathol2022
34972035Atypical teratoid rhabdoid tumor in a child with neurofibromatosis type 2: A novel dual diagnosis.Cancer Genet2022
35168420Ependymal Tumors.Pediatr Dev Pathol2022
32681571Congenital tumors of the central nervous system: an institutional review of 64 cases with emphasis on tumors with unique histologic and molecular characteristics.Brain Pathol2021
34226122Corrigendum to 'Angiocentric glioma-associated seizures: The possible role of EATT2, pyruvate carboxylase and glutamine synthetase [Seizure: European Journal of Epilepsy 86 (2021) 152-154].Seizure2021
33621827Angiocentric glioma-associated seizures: The possible role of EATT2, pyruvate carboxylase and glutamine synthetase.Seizure2021
34145313SMARCB1 deletion in atypical teratoid rhabdoid tumors results in human endogenous retrovirus K (HML-2) expression.Sci Rep2021
34036219NTRK Fusions Identified in Pediatric Tumors: The Frequency, Fusion Partners, and Clinical Outcome.JCO Precis Oncol2021
32970505Thrombosis of the Renal Vein and Inferior Vena Cava Associated With Placental Fetal Vascular Malperfusion in a Neonate Exposed to Methadone Maintenance Therapy In Utero.Pediatr Dev Pathol2021
32681571Congenital tumors of the central nervous system: an institutional review of 64 cases with emphasis on tumors with unique histologic and molecular characteristics.Brain Pathol2021
33341678Genomic characterization of a PPP1CB-ALK fusion with fusion gene amplification in a congenital glioblastoma.Cancer Genet2021
32997853The spectrum of rare central nervous system (CNS) tumors with EWSR1-non-ETS fusions: experience from three pediatric institutions with review of the literature.Brain Pathol2021
34581780MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.Brain2021
34729958Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies.Ann Clin Transl Neurol2021
34644147Epigenetically defined therapeutic targeting in H3.3G34R/V high-grade gliomas.Sci Transl Med2021
33621827Angiocentric glioma-associated seizures: The possible role of EATT2, pyruvate carboxylase and glutamine synthetase.Seizure2021
34644147Epigenetically defined therapeutic targeting in H3.3G34R/V high-grade gliomas.Sci Transl Med2021
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Collaborators

Co-authored papers 22
Children's Hospital of Philadelphia
Co-authored papers 16
Children's Hospital of Philadelphia
Co-authored papers 14
Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia
Co-authored papers 13
Co-authored papers 13
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 12
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Ann & Robert H. Lurie Children's Hospital
Co-authored papers 11
National Cancer Institute (NCI), National Institutes of Health (NIH)
Co-authored papers 11
Co-authored papers 10
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Perelman School of Medicine at the University of Pennsylvania
Co-authored papers 10
The Hospital for Sick Children
Co-authored papers 9
University of California san francisco
Co-authored papers 8
Co-authored papers 8
University of California san francisco
Co-authored papers 7
The Hospital for Sick Children
Co-authored papers 7
Brain Tumor Institute, Children's National Hospital
Co-authored papers 7
Co-authored papers 7
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 7
National Cancer Institute
Co-authored papers 7
Hospital for Sick Children
Co-authored papers 6
St. Jude Children's Research Hospital
Co-authored papers 6
USA University of Zurich
Co-authored papers 6
Co-authored papers 6
Institute of Pathology, University Hospital Heidelberg
Co-authored papers 5
University Children's Hospital Zurich
Co-authored papers 5
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Hopp Children's Cancer Center (KiTZ)
Co-authored papers 5
Massachusetts General Hospital
Co-authored papers 5