Author

Diva D. De León

Children's Hospital of PhiladelphiaORCID 0000-0003-1225-8087Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Biochemistry· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:cell signaling & trafficking· 1 Assay:electrophysiology· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anna-Marie Johnson· 1 shared Antonia DastamaniiD· 1 shared Assmaa ElSheikhiD· 1 shared Bianca Fiorella Miranda Cabrera· 1 shared Birgit M. Rami-MerhariD· 1 shared Charles A. StanleyiD· 1 shared Chirantap Markand OzaiD· 1 shared Doha S. Alhomaidah· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Anna-Marie Johnson

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2 papers

Recent·Most cited

Genetic & Genomic MedicineEBioMedicinePeer-reviewedMay 25, 2026

Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA

Jasmin J Bennett, Thomas W. Laver, Jonna M. E. Männistö…·Sarah Elizabeth Flanagan

This study detects low-level mosaic variants in blood DNA from individuals with congenital hyperinsulinism using tNGS and confirms them with ddPCR.

DOI 10.1016/j.ebiom.2026.106308

humanwhole-exome sequencing

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BiochemistryJournal of Biological ChemistryPeer-reviewedSep 27, 2025

Identification and Rescue of Congenital Hyperinsulinism-Associated ABCC8 Mutations that Impair KATP Channel Trafficking

Assmaa ElSheikh, Yi‐Ying Kuo, Kara E. Boodhansingh…·Show‐Ling Shyng

The paper identifies seven new SUR1 mutations in HI patients that impair KATP channel trafficking and function, showing varied responses to pharmacochaperone rescue.

3 citations

humanelectrophysiology

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