Author

Aparna Wagle Shukla

University of Florida HealthORCID 0000-0002-9757-9973Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ai Huey TaniD· 1 shared Alberto Javier EspayiD· 1 shared Alexandra S. Rudnik· 1 shared Ana Luísa de Almeida MarcelinoiD· 1 shared Andre FrankeiD· 1 shared Andrea A. KühniD· 1 shared Andres DeikiD· 1 shared Anthony Edward LangiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ai Huey TanORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineAnnals of Clinical and Translational NeurologyPeer-reviewedJun 18, 2025

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing

Mirja Thomsen, Fabian Ott, Sebastian Loens…·Katja Lohmann

This study uses exome sequencing to identify genetic variants in dystonia patients, finding 137 likely pathogenic variants in 51 genes and expanding the known phenotypic spectrum of dystonia-related genes.

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humanwhole-exome sequencing