Author

Maria Falkenberg

University of GothenburgORCID 0000-0001-8713-173XUnclaimed 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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Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 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 Aleksandra TrifunovićiD· 1 shared Anil Sukru Dogan· 1 shared Anthony J. BleyeriD· 1 shared Antonio Sanchez· 1 shared Anup MishraiD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abbigail TaylorORCID

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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

𝕏 PostBluesky

GeneticsbioRxivPreprintSep 10, 2020

In vivo and in vitro mechanistic characterization of a clinically relevant PolγA mutation

Pedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes…·Carlo Fiore Viscomi

This study characterizes the molecular pathogenesis of a POLG mutation by showing how it impairs POLγA function and leads to mtDNA instability through LONP1-dependent degradation.

DOI 10.1101/2020.09.10.291369

mouseexperimental assay

𝕏 PostBluesky