Author

Kelly Vallance

Cook Children's Medical CenterORCID 0000-0003-4185-921XUnclaimed 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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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Angshumoy RoyiD· 1 shared Donald Williams ParsonsiD· 1 shared Gregory M. CooperiD· 1 shared Owen HirschiiD· 1 shared Sharon E. PloniD· 1 shared Stephanie A. FelkeriD· 1 shared Surya P. RednamiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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7 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Angshumoy RoyORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenetics in Medicine OpenPeer-reviewedJan 1, 2024

Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity

Owen Hirschi, Stephanie A. Felker, Surya P. Rednam…·Sharon E. Plon

The paper evaluates the pathogenicity of intronic and synonymous variants using splicing prediction algorithms and in vitro assays, identifying potentially disease-causing variants previously classified as benign.

6 citations

humanwhole-exome sequencing

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