Author

Claes M. Gustafsson

University of GothenburgORCID 0000-0003-3531-8468Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Abbigail TayloriD· 1 shared Abhijit DixitiD· 1 shared Afonso Santos· 1 shared Anthony J. BleyeriD· 1 shared Antonio Sanchez· 1 shared Colm RowaniD· 1 shared Dita MušálkováiD· 1 shared Hana HansíkováiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abbigail TaylorORCID

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1 paper

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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