Sharon J. Diskin, Ph.D.

Affiliations: 
Biomedical and Health Informatics and Pediatrics University of Pennsylvania Perelman School of Medicine 
Area:
Bioinformatics, Computational Biology, Oncology
Website:
https://diskinlab.org/lab-members/
Google:
"Sharon Diskin"
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Publications

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Banerjee D, Bagchi S, Liu Z, et al. (2024) Lineage specific transcription factor waves reprogram neuroblastoma from self-renewal to differentiation. Nature Communications. 15: 3432
Kim J, Naqvi AS, Corbett RJ, et al. (2024) AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification. Bioinformatics (Oxford, England)
Kim J, Naqvi AS, Corbett RJ, et al. (2023) AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification. Biorxiv : the Preprint Server For Biology
Kim J, Vaksman Z, Egolf LE, et al. (2023) Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival. Journal of the National Cancer Institute
Randall MP, Egolf LE, Vaksman Z, et al. (2023) BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma. Journal of the National Cancer Institute
Shapiro JA, Gaonkar KS, Spielman SJ, et al. (2023) OpenPBTA: The Open Pediatric Brain Tumor Atlas. Cell Genomics. 3: 100340
Randall MP, Egolf LE, Vaksman Z, et al. (2023) germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma. Biorxiv : the Preprint Server For Biology
Kim J, Vaksman Z, Egolf LE, et al. (2023) Germline pathogenic variants in 786 neuroblastoma patients. Medrxiv : the Preprint Server For Health Sciences
Stundon JL, Ijaz H, Gaonkar KS, et al. (2022) ALT in Pediatric High-Grade Gliomas Can Occur without ATRX Mutation and is Enriched in Patients with Pathogenic Germline MMR Variants. Neuro-Oncology
Formicola D, Lasorsa VA, Cantalupo S, et al. (2022) is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity. Hgg Advances. 4: 100158
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