Author

Shayna Mueller

Washington University in St. LouisORCID 0009-0006-9950-9537Unclaimed 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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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Colin P. FlorianiD· 1 shared Courtney F. JungersiD· 1 shared Joseph D. DoughertyiD· 1 shared Kelli McFarland WhiteiD· 1 shared Michael J. KasperiD· 1 shared Rebecca ChaseiD· 1 shared Sergej DjuranovićiD· 1 shared Slavica Pavlovic DjuranoviciD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Colin P. FlorianORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 2, 2023

A Massively Parallel Screen of 5'UTR Mutations Identifies Variants Impacting Translation and Protein Production in Neurodevelopmental Disorder Genes

Stephen P. Plassmeyer, Colin P. Florian, Michael J. Kasper…·Joseph D. Dougherty

The paper screens 5'UTR mutations in neurodevelopmental disorder genes to identify functional variants impacting translation and protein production, finding some mutations affect known syndromic autism genes in neurons.

11 citations

humanwhole-genome sequencing

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