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Bioinformatics Advances|February 10, 2025
Sequali: efficient and comprehensive quality control of short- and long-read sequencing dataRuben H P Vorderman
The Pharmacogenomics Journal|August 13, 2022
Development of an extensive workflow for comprehensive clinical pharmacogenomic profiling: lessons from a pilot study on 100 whole exome sequencing dataAlireza Tafazoli, Maaike van der Lee, Jesse J Swen, et al.
The Journal of Molecular Diagnostics : JMD|December 15, 2019
Retrospective Validation of a Metagenomic Sequencing Protocol for Combined Detection of RNA and DNA Viruses Using Respiratory Samples from Pediatric PatientsSander van Boheemen, Anneloes L van Rijn, Nikos Pappas, et al.
Molecular Metabolism|April 12, 2022
Angiopoietin-like 4 governs diurnal lipoprotein lipase activity in brown adipose tissueRobin van Eenige, Wietse In Het Panhuis, Milena Schönke, et al.
Blood|September 24, 2024
Recurrent CLTC::SYK fusions and CSF1R mutations in juvenile xanthogranuloma of soft tissuePaul G Kemps, Hans J Baelde, Ruben H P Vorderman, et al.
HGG Advances|July 20, 2025
Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9Noah C Helderman, Ting Yang, Claire Palles, et al.
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