Author

Antonio Sanchez

Wake Forest University Health Sciences

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 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 Colm RowaniD· 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

Mutual co-authors in cluster

Author profile →

2 papers

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

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, Václav Janoušek, Martin Radina, Petr Vyleťal, Ibrahim Bitar, Viktor Stránecký, Lenka Steiner Mrazova, Helena Trešlová, Jana Sovová, Kateřina Hodaňová, Hana Hartmannová, Dita Mušálková, Klára Svojšová, , 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.

Journal of the American Society of Nephrology · Apr 10, 2026Peer-reviewedGenetics