Author

Nicholas Scott Abend

Children's Hospital of PhiladelphiaORCID 0000-0001-6166-2663Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Assay:electronic health records· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alex Gonzalez· 1 shared Alexis R. KarliniD· 1 shared Danielle deCampoiD· 1 shared Ingo HelbigiD· 1 shared Julie XianiD· 1 shared Katie Rose SullivaniD· 1 shared Mark RamosiD· 1 shared Peter D. GaleriD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alex Gonzalez

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 12, 2023

The genetic spectrum of febrile infection-related epilepsy syndrome (FIRES) and refractory status epilepticus

Danielle deCampo, Julie Xian, Alexis R. Karlin…·Ingo Helbig

This paper analyzes the clinical and genetic landscape of FIRES and RSE, finding 36% of RSE patients have genetic causes, while FIRES remains largely undiagnosed.

DOI 10.1101/2023.02.12.23285754

humanelectronic health records

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