Author

Katarina L. Fabre

Northwestern UniversityORCID 0000-0002-2423-0498Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Assay:electronic health records· 2 Approach:experimental assay· 2 Organism:human· 2 Research Focus:variant effect prediction· 2

Frequent Co-Authors

Alfred L. GeorgeiD· 2 shared Carlos G. VanoyeiD· 2 shared Ali TorkamaniiD· 1 shared Allison Schreiber· 1 shared Annapurna PoduriiD· 1 shared Bryan Lynch· 1 shared Carol SaundersiD· 1 shared Charles R. SandersiD· 1 shared

Activity by Year

2018-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetics

Alfred L. GeorgeORCID

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2 papers

Recent·Most cited

GeneticsAnnals of NeurologyPeer-reviewedOct 10, 2019

High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy

Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra…·Jennifer A. Kearney

This study evaluates 17 KCNB1 variants associated with DEE and NDD using high-throughput assays to identify functional defects in Kv2.1 channels.

62 citations

humanelectronic health records

𝕏 PostBluesky

GeneticsCirculation Genomic and Precision MedicinePeer-reviewedNov 1, 2018

High Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance

Carlos G. Vanoye, Reshma R. Desai, Katarina L. Fabre…·Alfred L. George

This study evaluates KCNQ1 variants using high-throughput electrophysiology, classifying 70% of unstudied variants and showing allele frequency is not a reliable predictor of function.

96 citationstop 2%

humanelectronic health records

𝕏 PostBluesky