Author

Colm Rowan

Beaumont HospitalORCID 0000-0002-1660-1244Unclaimed 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 Approach:experimental assay· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Anthony J. BleyeriD· 2 shared Antonio Sanchez· 2 shared Dita MušálkováiD· 2 shared Hana HartmannováiD· 2 shared Helena TrešlováiD· 2 shared Kateřina HodaňováiD· 2 shared Kendrah O. KiddiD· 2 shared Klára SvojšováiD· 2 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anthony J. BleyerORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 3, 2026

Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease

Klára Svojšová, Kendrah O. Kidd, Dita Mušálková…·Stanislav Kmoch

The paper identifies recurrent mtDNA variants, particularly in the LSP2 promoter, as a cause of tubulointerstitial kidney disease in families with maternal inheritance.

DOI 10.64898/2026.07.31.26359118

humanwhole-genome sequencing

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GeneticsJournal of the American Society of NephrologyPeer-reviewedApr 10, 2026

Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression

Alena Vrbacká, Anna Přistoupilová, Kendrah O. Kidd…·Stanislav Kmoch

This study uses long-read sequencing to characterize MUC1 VNTR variation in ADTKD-MUC1, identifying frameshift mutations and their association with disease progression.

7 citationstop 1%

humanlong-read sequencing

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