Author

Juliann M. Savatt

Geisinger Medical CenterORCID 0000-0001-6444-1962Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Natasha T. StrandeiD· 2 shared Andrés Moreno-De-LucaiD· 1 shared Brenda M. FinucaneiD· 1 shared Chaorui DuaniD· 1 shared Christa Lese MartiniD· 1 shared Christopher R. Neil· 1 shared David H. LedbetteriD· 1 shared Hermela ShimelisiD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersMolecular Biology

Natasha T. StrandeORCID

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2 papers

Recent·Most cited

Molecular BiologybioRxivPreprintDec 7, 2024

One-Size-Fits-Many: Antisense oligonucleotides for rescuing splicing mutations in hotspot exons

Chaorui Duan, Stephen Rong, Luke Buerer…·William Guy Fairbrother

The paper identifies splice-disrupting mutations in hotspot exons and shows that antisense oligonucleotides (ASOs) can revert splicing defects in these exons.

2 citations

humanDNA methylation

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMay 31, 2022

Frequency of FLCN Loss of Function Variants and Birt-Hogg-Dube-Associated Phenotypes in a Healthcare System Population

Juliann M. Savatt, Hermela Shimelis, Andrés Moreno-De-Luca…·Brenda M. Finucane

The paper estimates the prevalence of FLCN pathogenic variants and BHD-related phenotypes in a healthcare population, finding a higher frequency than previously reported and underdiagnosis of BHD.

33 citationstop 4%

humanwhole-exome sequencing

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