Author

Christopher N. Chapman

St. Luke's University Health Network

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 4

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Assay:whole-exome sequencing· 3 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1

Frequent Co-Authors

Alexandre BolzeiD· 4 shared C. Anwar A. ChahaliD· 4 shared Douglas A. Olson· 4 shared Douglas A. StolleriD· 4 shared Elizabeth T. CirulliiD· 4 shared Joseph J. GrzymskiiD· 4 shared Kelly M. Schiabor BarrettiD· 4 shared William LeeiD· 4 shared

Activity by Year

2024-2025 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Alexandre BolzeORCID

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Author profile →

4 papers

Recent·Most cited

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

Matthew E. Levy, Kelly M. Schiabor Barrett, Megan N. Betts, David Kann, Alexandre Bolze, Basil Khuder, Natalie Telis, Lisa M. McEwen, Amy Curry Sturm, Chad R. Haldeman‐Englert, Jeremy Cauwels, Douglas A. Stoller, C. Anwar A. Chahal, Christopher N. Chapman, Ashley Arana Waring, , Catherine A. Hajek

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

Circulation Genomic and Precision Medicine · Nov 5, 2025Peer-reviewedGenetic & Genomic Medicine

From Uncertain to Actionable: Significant Reduction in Variants of Uncertain Significance in Hereditary Germline Testing via Multi-Institutional Real-World Evidence

Kelly M. Schiabor Barrett, Matthew J. Ferber, Sophie I. Candille, Ildiko Thibodeau, Daniela Iacoboni, Amy Curry Sturm, Chad R. Haldeman‐Englert, Steven Francis Powell, Douglas A. Stoller, Christopher N. Chapman, C. Anwar A. Chahal, Daniel Philip Judge, Douglas A. Olson, Joseph J. Grzymski, Nicole L. Washington, , Elizabeth T. Cirulli

This paper introduces a method to reclassify variants of uncertain significance using real-world evidence from large-scale datasets, significantly improving variant interpretation.

medRxiv · Aug 12, 2025 · PreprintGenetic & Genomic Medicine

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, Kate Lynch, Leigha A. Senter, Amy Curry Sturm, Chad R. Haldeman-Englert, Jeremy Cauwels, Douglas A. Stoller, Christopher N. Chapman, C. Anwar A. Chahal, Daniel Philip Judge, Douglas A. Olson, Joseph J. Grzymski, William Lee, , 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.

medRxiv · Feb 3, 2025 · PreprintGenetic & Genomic Medicine

A novel method for predicting Lp(a) levels from routine outpatient genomic testing identifies those at risk of cardiovascular disease across a diverse cohort

Natalie Telis, Hang Dai, Ashley Arana Waring, David Kann, Dana Wyman, Simon J. White, Basil Khuder, Francisco Tanudjaja, Alexandre Bolze, Matthew E. Levy, Cassie Hajek, Lisa M. McEwen, Douglas A. Stoller, Christopher N. Chapman, C. Anwar A. Chahal, , Kelly M. Schiabor Barrett

This paper develops a method to predict Lp(a) levels from genomic data, combining SNV risk scores and KIV-2 repeat counts, and shows it improves risk prediction for cardiovascular disease in diverse populations.

medRxiv · Nov 1, 2024 · PreprintGenetic & Genomic Medicine