Author

Marta Sousa Santos

KU LeuvenORCID 0000-0002-0974-1724Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ann SwilleniD· 1 shared Anne S. BassettiD· 1 shared Beverly S. EmanueliD· 1 shared Donna M. McDonald‐McGinniD· 1 shared Erika L. SoucheiD· 1 shared Hilde PeetersiD· 1 shared Hilde Van EschiD· 1 shared Jeroen BreckpotiD· 1 shared

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2024-2024 · peak 1/yr

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1 shared paperGenetics

Ann SwillenORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintMar 14, 2024

Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome

Lisanne Vervoort, Nicolas Dierckxsens, Marta Sousa Santos…·Joris Robert Vermeesch

The paper investigates the mechanisms behind the high incidence of 22q11.2 deletion syndrome by analyzing recombination events and paralogous structures in LCR22 regions.

DOI 10.1101/2024.03.14.585046

humanwhole-genome sequencing

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