Author

Joanna C. Jen

Icahn School of Medicine at Mount SinaiORCID 0000-0002-2319-7032Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:C. elegans· 1 Assay:electronic health records· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alexa Augustine· 1 shared Araven TiroumalechettyiD· 1 shared David Conover SprayiD· 1 shared Heather D. SnelliD· 1 shared Jihong BaiiD· 1 shared Maximiliano Zuluaga-ForeroiD· 1 shared Michael B KrawchukiD· 1 shared Nichelle JacksoniD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperNeuroscience

Alexa Augustine

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1 paper

Recent·Most cited

NeurosciencebioRxivPreprintMay 10, 2026

In vivo characterization of a patient CACNA1A variant reveals paradoxical synaptic effects

Michael B Krawchuk, Araven Tiroumalechetty, Maximiliano Zuluaga-Forero…·Peri T. Kurshan

The paper characterizes a CACNA1A variant in a patient with mixed clinical symptoms, showing conflicting in vitro and in vivo effects that highlight the importance of cellular context.

DOI 10.64898/2026.04.27.721138

C. eleganselectronic health records

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