Author

Jeremy Cauwels

Sanford HealthORCID 0000-0001-5175-1902Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:electronic health records· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexandre BolzeiD· 2 shared Amy Curry SturmiD· 2 shared C. Anwar A. ChahaliD· 2 shared Catherine A. HajekiD· 2 shared Christopher N. Chapman· 2 shared Douglas A. Olson· 2 shared Douglas A. StolleriD· 2 shared Elizabeth T. CirulliiD· 2 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexandre BolzeORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineCirculation Genomic and Precision MedicinePeer-reviewedNov 5, 2025

Population genomic screening leads to improved lipid management in patients with familial hypercholesterolemia

Matthew E. Levy, Kelly M. Schiabor Barrett, Megan N. Betts…·Catherine A. Hajek

Population genomic screening identified familial hypercholesterolemia patients, leading to improved lipid-lowering therapies and LDL-C reductions.

1 citation

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintFeb 3, 2025

Lynch syndrome in the general population: low clinical utility of genomic screening for PMS2 pathogenic variants

Kelly M. Schiabor Barrett, Catherine A. Hajek, James T. Lu…·Alexandre Bolze

This study assesses the cancer risk associated with PMS2 pathogenic variants in the general population and finds low clinical utility for genomic screening.

DOI 10.1101/2025.02.03.25321630

humanelectronic health records

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