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NAR Genomics and Bioinformatics|February 13, 2026

Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflowWillem T K Maassen, Charlotte C E T Pape, Carlos G Urzua-Traslavina, et al.

NAR Genomics and Bioinformatics|June 30, 2025

MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methodsWillem T K Maassen, Lennart F Johansson, Bart Charbon, et al.

Frontiers in Immunology|June 12, 2026

A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunityWillem T K Maassen, Lotte C E T Pape, Tim Niemeijer, et al.

Human Mutation|August 22, 2019

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing dataIvo F A C Fokkema, Kasper J van der Velde, Mariska K Slofstra, et al.

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Showing results (1-10 of 4) with videos related to

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NAR Genomics and Bioinformatics|February 13, 2026

Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflowWillem T K Maassen, Charlotte C E T Pape, Carlos G Urzua-Traslavina, et al.

NAR Genomics and Bioinformatics|June 30, 2025

MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methodsWillem T K Maassen, Lennart F Johansson, Bart Charbon, et al.

Frontiers in Immunology|June 12, 2026

A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunityWillem T K Maassen, Lotte C E T Pape, Tim Niemeijer, et al.

Human Mutation|August 22, 2019

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing dataIvo F A C Fokkema, Kasper J van der Velde, Mariska K Slofstra, et al.

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