Author

Marta S. Santos

KU Leuven

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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Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adam FrankishiD· 1 shared Alawi A.A. Alsheikh-AliiD· 1 shared Andrea GuarracinoiD· 1 shared Andrew P. BlairiD· 1 shared Andrew W. CarrolliD· 1 shared Ann M. Mc CartneyiD· 1 shared Ann SwilleniD· 1 shared Anna-Sophie Fiston-LavieriD· 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 paperGenomics

Adam FrankishORCID

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1 paper

Recent·Most cited

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.

David Porubskỳ, DongAhn Yoo, Nidhi Koundinya, Erika L. Souche, Philip C. Dishuck, Nicolas Dierckxsens, William T. Harvey, Katherine M. Munson, Kendra Hoekzema, Daniel D. Chan, Tiffany Y. Leung, Marta S. Santos, Senne Meynants, Ann Swillen, Jeroen Breckpot, , Todd L. Hillaker

The paper analyzes chromosome 22q11.2 haplotypes to show how structural variations in specific regions correlate with microdeletion and inversion risks across populations.

Nature Communications · Apr 18, 2026Peer-reviewedGenomics