Author

Judy E. Bloom

UConn Health

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 2 Approach:experimental assay· 2 Organism:human· 2 Research Focus:cell-cell communication· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Assay:proteomics· 1 Research Focus:spatial domain detection· 1

Frequent Co-Authors

Eric S. LevineiD· 2 shared James J. Fink· 2 shared Stormy J. ChamberlainiD· 2 shared Carissa L. SiroisiD· 1 shared Dea GorkaiD· 1 shared Dylan S. BakeriD· 1 shared Jadin James· 1 shared Jeremy D. SchreineriD· 1 shared

Activity by Year

2018-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetics

Eric S. LevineORCID

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2 papers

Recent·Most cited

Abundance and localization of human UBE3A protein isoforms

Carissa L. Sirois, Judy E. Bloom, James J. Fink, Dea Gorka, Steffen Johannes Keller, Noélle D. Germain, Eric S. Levine, Stormy J. Chamberlain

The paper investigates the abundance and localization of human UBE3A protein isoforms and their impact on Angelman Syndrome phenotypes using CRISPR/Cas9-generated isogenic cells.

Human Molecular Genetics · Aug 18, 2020Peer-reviewedGenetics

Hyperexcitable phenotypes in iPSC-derived neurons from patients with 15q11-q13 duplication syndrome, a genetic form of autism

James J. Fink, Jeremy D. Schreiner, Judy E. Bloom, Jadin James, Dylan S. Baker, Tiwanna M. Robinson, Richard Lieberman, Leslie M. Loew, Stormy J. Chamberlain, Eric S. Levine

This study investigates hyperexcitability in iPSC-derived neurons from Dup15q patients, identifying mechanisms like delayed action potential maturation and KCNQ2 channel disruption.

bioRxiv · Mar 21, 2018Neuroscience