Author

An‐Sofie Schoonjans

Antwerp University HospitalORCID 0000-0001-7545-518XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Amelie T. van der VeniD· 1 shared Andrea Rueegger· 1 shared Anna Esteve‐CodinaiD· 1 shared Anna JanseniD· 1 shared Anne Schulz· 1 shared Barbara CastellottiiD· 1 shared Bernd Axel NeubaueriD· 1 shared Carsten Wurst· 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

Amelie T. van der VenORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 28, 2026

Long-read genome sequencing resolves complex structural variants in exome-negative developmental and epileptic encephalopathy

Joohyun Park, Zakaria Eddafir, Josua Kegele…·Holger Lerche

This study evaluates the diagnostic value of long-read genome sequencing in DEE patients, finding it particularly effective for resolving complex structural variants not detected by short-read sequencing.

DOI 10.64898/2026.10.26.26365902

humanwhole-genome sequencing

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