Author

Michael P. Randall

Children's Hospital of PhiladelphiaORCID 0000-0002-8687-1514Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

John M. MarisiD· 2 shared Kristopher R. BosseiD· 2 shared Laura E. EgolfiD· 2 shared Perry EvansiD· 2 shared Sharon J. DiskiniD· 2 shared Zalman VaksmaniD· 2 shared Adam ShlieniD· 1 shared Arnavaz DaneshiD· 1 shared

Activity by Year

2023-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetics

John M. MarisORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

GeneticsJNCI Journal of the National Cancer InstitutePeer-reviewedSep 8, 2023

BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma

Michael P. Randall, Laura E. Egolf, Zalman Vaksman…·Kristopher R. Bosse

This study identifies BARD1 germline variants associated with reduced BARD1 expression and DNA repair defects in neuroblastoma, showing haploinsufficiency and increased genomic instability.

26 citationstop 5%

humanDNA methylation

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintJan 23, 2023

Germline pathogenic variants in 786 neuroblastoma patients

Jung Kim, Zalman Vaksman, Laura E. Egolf…·Sharon J. Diskin

This study identifies 13.9% of neuroblastoma patients with pathogenic germline variants in cancer predisposition genes, associated with worse survival and enriched in DNA repair genes like BARD1.

6 citations

humanwhole-exome sequencing

𝕏 PostBluesky