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Author Details

Sharon J Diskin
Children's Hospital of Philadelphia
2002
78
40
PMIDPaper TitleJournal TitlePublished Year
37812652Surface and Global Proteome Analyses Identify ENPP1 and Other Surface Proteins as Actionable Immunotherapeutic Targets in Ewing Sarcoma.Clin Cancer Res2024
37812652Surface and Global Proteome Analyses Identify ENPP1 and Other Surface Proteins as Actionable Immunotherapeutic Targets in Ewing Sarcoma.Clin Cancer Res2024
37688579Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.J Natl Cancer Inst2024
37688570BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.J Natl Cancer Inst2024
37688579Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.J Natl Cancer Inst2024
37688570BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.J Natl Cancer Inst2024
36335802The children's brain tumor network (CBTN) - Accelerating research in pediatric central nervous system tumors through collaboration and open science.Neoplasia2023
36335802The children's brain tumor network (CBTN) - Accelerating research in pediatric central nervous system tumors through collaboration and open science.Neoplasia2023
37584517Integrative Genomic Analyses Identify LncRNA Regulatory Networks across Pediatric Leukemias and Solid Tumors.Cancer Res2023
38076939AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.bioRxiv2023
36909587Genetic Predisposition to Neuroblastoma Results from a Regulatory Polymorphism that Promotes the Adrenergic Cell State.bioRxiv2023
36778420<i>BARD1</i> germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.bioRxiv2023
36747619Germline pathogenic variants in 786 neuroblastoma patients.medRxiv2023
37183825Genetic predisposition to neuroblastoma results from a regulatory polymorphism that promotes the adrenergic cell state.J Clin Invest2023
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
38076939AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.bioRxiv2023
37584517Integrative Genomic Analyses Identify LncRNA Regulatory Networks across Pediatric Leukemias and Solid Tumors.Cancer Res2023
37492101OpenPBTA: The Open Pediatric Brain Tumor Atlas.Cell Genom2023
37183825Genetic predisposition to neuroblastoma results from a regulatory polymorphism that promotes the adrenergic cell state.J Clin Invest2023
36747619Germline pathogenic variants in 786 neuroblastoma patients.medRxiv2023
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
36778420<i>BARD1</i> germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.bioRxiv2023
36909587Genetic Predisposition to Neuroblastoma Results from a Regulatory Polymorphism that Promotes the Adrenergic Cell State.bioRxiv2023
35134187Identification of Mitochondrial DNA Variants Associated With Risk of Neuroblastoma.J Natl Cancer Inst2022
36425957<i>CFDP1</i> is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity.HGG Adv2022
35134187Identification of Mitochondrial DNA Variants Associated With Risk of Neuroblastoma.J Natl Cancer Inst2022
35131881Genetic Analysis in African American Children Supports Ancestry-Specific Neuroblastoma Susceptibility.Cancer Epidemiol Biomarkers Prev2022
36425957<i>CFDP1</i> is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity.HGG Adv2022
35131881Genetic Analysis in African American Children Supports Ancestry-Specific Neuroblastoma Susceptibility.Cancer Epidemiol Biomarkers Prev2022
32897422Correction to: Genetic susceptibility to neuroblastoma: current knowledge and future directions.Cell Tissue Res2021
33918978A G316A Polymorphism in the Ornithine Decarboxylase Gene Promoter Modulates MYCN-Driven Childhood Neuroblastoma.Cancers (Basel)2021
32897422Correction to: Genetic susceptibility to neuroblastoma: current knowledge and future directions.Cell Tissue Res2021
33051644svpluscnv: analysis and visualization of complex structural variation data.Bioinformatics2021
33918978A G316A Polymorphism in the Ornithine Decarboxylase Gene Promoter Modulates MYCN-Driven Childhood Neuroblastoma.Cancers (Basel)2021
33051644svpluscnv: analysis and visualization of complex structural variation data.Bioinformatics2021
31605138Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene.Carcinogenesis2020
31613963Pediatric high-grade glioma resources from the Children's Brain Tumor Tissue Consortium.Neuro Oncol2020
32096864Mitochondrial DNA Haplogroups and Susceptibility to Neuroblastoma.J Natl Cancer Inst2020
31605138Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene.Carcinogenesis2020
32796005Somatic structural variation targets neurodevelopmental genes and identifies <i>SHANK2</i> as a tumor suppressor in neuroblastoma.Genome Res2020
33115534Genetic predisposition to longer telomere length and risk of childhood, adolescent and adult-onset ependymoma.Acta Neuropathol Commun2020
32607579European genetic ancestry associated with risk of childhood ependymoma.Neuro Oncol2020
32096864Mitochondrial DNA Haplogroups and Susceptibility to Neuroblastoma.J Natl Cancer Inst2020
33115534Genetic predisposition to longer telomere length and risk of childhood, adolescent and adult-onset ependymoma.Acta Neuropathol Commun2020
32607579European genetic ancestry associated with risk of childhood ependymoma.Neuro Oncol2020
32796005Somatic structural variation targets neurodevelopmental genes and identifies <i>SHANK2</i> as a tumor suppressor in neuroblastoma.Genome Res2020
31613963Pediatric high-grade glioma resources from the Children's Brain Tumor Tissue Consortium.Neuro Oncol2020
30793172Differences in Genomic Profiles and Outcomes Between Thoracic and Adrenal Neuroblastoma.J Natl Cancer Inst2019
31693904Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design.Cell Rep2019
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Collaborators

John M Maris
Children's Hospital of Philadelphia
Co-authored papers 52
Zalman Vaksman
Children's Hospital of Philadelphia
Co-authored papers 25
Hakon Hakonarson
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 25
Kristina A Cole
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 20
Yael P Mosse
Perelman School of Medicine at the University of Pennsylvania
Co-authored papers 15
Maura Diamond
Co-authored papers 15
Kristopher R Bosse
Co-authored papers 12
Joseph T Glessner
Co-authored papers 10
Gonzalo L??pez
Children's Hospital of Philadelphia
Co-authored papers 9
Jaime M Guidry Auvil
National Cancer Institute
Co-authored papers 8
Cecilia E Kim
Co-authored papers 7
Jun S Wei
Center for Cancer Research, National Cancer Institute
Co-authored papers 7
Javed Khan
Center for Cancer Research, National Cancer Institute
Co-authored papers 7
Malcolm A Smith
National Cancer Institute
Co-authored papers 6
Pichai Raman
Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia
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Daniela S Gerhard
National Cancer Institute
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Adam C Resnick
Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia
Co-authored papers 5
Gregory R Grant
Perelman School of Medicine, University of Pennsylvania Philadelphia
Co-authored papers 5
Struan F A Grant
Center for Spatial and Functional Genomics, The Children's Hospital of Philadelphia
Co-authored papers 5
Christian J Stoeckert
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 5
Jung Kim
Clinical Genetics Branch, National Cancer Institute
Co-authored papers 5
Susan L Cohn
Co-authored papers 4
Lori S Hart
Children's Hospital of Philadelphia, USA. [2] Center for Childhood Cancer Research
Co-authored papers 4
Phillip B Storm
Children's Hospital of Philadelphia
Co-authored papers 4
Mariarita Santi
Children's Hospital of Philadelphia
Co-authored papers 4
Angela J Waanders
Ann & Robert H. Lurie Children's Hospital
Co-authored papers 4
Douglas R Stewart
Clinical Genetics Branch, National Cancer Institute
Co-authored papers 4
Apexa Modi
Abbvie Inc., Genomics Research Center
Co-authored papers 4
Kai Wang
University of Pennsylvania
Co-authored papers 4
Krutika S Gaonkar
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