Author

Afonso Santos

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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Genetic & Genomic Medicine· 1

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 Anthony J. BleyeriD· 1 shared Antonio Sanchez· 1 shared Claes M. GustafssoniD· 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

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

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

Klára Svojšová, Kendrah O. Kidd, Dita Mušálková, Tereza Kmochová, Hana Hartmannová, Kateřina Hodaňová, Viktor Stránecký, Veronika Barešová, Helena Trešlová, Martin Radina, Lea Pavlovičová, Jakub Sikora, Abbigail Taylor, Lauren Martin, Antonio Sanchez, , 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.

medRxiv · Aug 3, 2026 · PreprintGenetic & Genomic Medicine