Author

Sarah R. Poll

Invitae (United States)ORCID 0000-0003-2101-1203Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Assay:metabolomics· 1 Assay:proteomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Arianna Franca AnzmanniD· 1 shared Brett M. KronckeiD· 1 shared Chai‐Ann NgiD· 1 shared Courtney E. Woods· 1 shared David L. ValleiD· 1 shared Débora Romeo BertolaiD· 1 shared Felicity A. Collins· 1 shared Flavia M. FacioiD· 1 shared

Activity by Year

2019-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Arianna Franca AnzmannORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineCirculation Genomic and Precision MedicinePeer-reviewedJul 18, 2025

Calibrated Functional Data Decreases Clinical Uncertainty for KCNH2-related Long QT Syndrome

Chai‐Ann Ng, Matthew J. O’Neill, Samskruthi Reddy Padigepati…·Brett M. Kroncke

The paper presents a method to reduce clinical uncertainty in KCNH2-related long QT syndrome by using calibrated functional data to classify variants of uncertain significance.

1 citation

human

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GeneticsbioRxivPreprintDec 19, 2019

Loss of function variants in PCYT1A causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formation.

Julie A. Jurgens, Suming Chen, Nara Lygia de Macena Sobreira…·David L. Valle

This study investigates the effects of PCYT1A variants on lipid metabolism, chondrocyte differentiation, and lipid droplet formation using cellular models and lipidomics.

DOI 10.1101/2019.12.19.882191

humanproteomics

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