Author

Christian M. Shaffer

Vanderbilt University Medical Center

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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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Approach:experimental assay· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Dan M. RodeniD· 3 shared Brett M. KronckeiD· 2 shared Devyn MitchelliD· 2 shared Giovanni DavogusttoiD· 2 shared Adaani FrostiD· 1 shared Adam S. Gordon· 1 shared Alex SheniD· 1 shared Alexander Y. Tchourbanov· 1 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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3 shared papersGenetics

Dan M. RodenORCID

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Author profile →

3 papers

Recent·Most cited

Generation of human induced pluripotent stem cell (hiPSC) lines from patients with extreme high and low polygenic scores for QT interval

Devyn Mitchell, Rizwan Ullah, Loren R. Vanags, Alex Shen, Luke Jones, William Morris, Matthew J. O’Neill, Giovanni Davogustto, Christian M. Shaffer, Dan M. Roden, Ben B. Shoemaker, Hollie Williams, Teresa L. Strickland, Taylor A. Agee, Christopher N. Johnson, Brett M. Kroncke

The paper generates hiPSC lines from patients with extreme polygenic scores for QT interval to study LQTS genetic and cellular complexity.

Stem Cell Research · Feb 27, 2025Peer-reviewedGenetics

Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing study

Andrew Michael Glazer, Giovanni Davogustto, Christian M. Shaffer, Carlos G. Vanoye, Reshma R. Desai, Eric H. Farber‐Eger, Ozan Dikilitas, Ning Shang, Jennifer A. Pacheco, Tao Yang, Ayesha Muhammad, Jonathan D. Mosley, Sara L. Van Driest, Quinn Stanton Wells, Lauren Lee Shaffer, , Dan M. Roden

The paper identifies pathogenic variants in arrhythmia genes in eMERGE-III participants and reclassifies variants of uncertain significance using functional studies.

Circulation · Dec 21, 2021Peer-reviewedGenetic & Genomic Medicine

Genetic determinants of risk and survival in pulmonary arterial hypertension

Christopher J. Rhodes, Ken Batai, Marta Bleda, Matthias Haimel, Laura Southgate, Marine Germain, Michael W. Pauciulo, Charaka Hadinnapola, Jurjan Aman, Barbara Girerd, Amit Arora, Jo Knight, Ken Benjamin Hanscombe, Jason H. Karnes, Marika Kaakinen, , Quinten Waisfisz

This study identifies common genetic variants associated with pulmonary arterial hypertension risk and survival, focusing on HLA-DPA1/DPB1 and a SOX17 enhancer locus.

The Lancet Respiratory Medicine · Dec 5, 2018Peer-reviewedGenetics