Author

Caoimhe S. McKenna

Cincinnati Children's Hospital Medical CenterORCID 0000-0003-1763-4889Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:variant effect prediction· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Assay:ChIP-seq· 1 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1

Frequent Co-Authors

A. Ansari· 2 shared A. Hadonou· 2 shared A. Kulkarni· 2 shared A. Ramsay Bowden· 2 shared A. Ross· 2 shared A. Taylor· 2 shared A.C. Hogg· 2 shared Adam C. ShawiD· 2 shared

Activity by Year

2024-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

A. Ansari

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3 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedSep 5, 2025

Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer

Sophie Allen, Charlie F Rowlands, Samantha Butler…·Catarina Olimpio

The paper quantifies phenotypic specificity of rare FH variants in HLRCC and renal cancer using likelihood ratios from clinical and population data.

3 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintOct 31, 2024

Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder

Marissa J. Maroni, Melissa Barton, Katherine Lynch…·Erica Korb

This study shows that partial loss of DOT1L causes transcriptional, morphological, and behavioral defects in neurons across multiple models.

3 citations

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedOct 24, 2024

Classification of Variants of Reduced Penetrance in High Penetrance Cancer Susceptibility Genes: Framework for Genetics Clinicians and Clinical Scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

Alice Garrett, Sophie Allen, Miranda Durkie…·J. Williams

The paper develops a framework for classifying variants of reduced penetrance in cancer susceptibility genes to improve variant interpretation consistency.

17 citationstop 4%

statistical modelvariant effect prediction

𝕏 PostBluesky