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HGG Advances|January 20, 2022
Long-read technologies identify a hidden inverted duplication in a family with choroideremiaZeinab Fadaie, Kornelia Neveling, Tuomo Mantere, et al.
Human Genetics|August 19, 2021
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variantJeroen J Smits, Suzanne E de Bruijn, Cornelis P Lanting, et al.
Cells|November 26, 2022
The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific MannerIrene Vázquez-Domínguez, Lonneke Duijkers, Zeinab Fadaie, et al.
Molecular Pharmaceutics|September 16, 2024
Enteroids to Study Pediatric Intestinal Drug TransportEva J Streekstra, Marit Keuper-Navis, Jeroen J M W van den Heuvel, et al.
The Journal of Pathology|July 7, 2021
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumorsMariangela Sabatella, Tuomo Mantere, Esmé Waanders, et al.
European Journal of Human Genetics : EJHG|October 18, 2023
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samplesRobin Wijngaard, German Demidov, Luke O'Gorman, et al.
Genome Research|March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencingWouter Steyaert, Lydia Sagath, German Demidov, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencingWouter Steyaert, Lydia Sagath, German Demidov, et al.
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