Ronny C. Derks
Nijmegen, GE, Netherlands
Last Updated: 09/26/2026
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Found 34 publications
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.
Journal: The New England journal of medicine
Published: June 15, 2026
Publisher Correction: Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome.
Journal: NPJ genomic medicine
Published: March 25, 2026
Distinct mechanisms of CNV formation at the human 15q13.3 locus.
Journal: bioRxiv : the preprint server for biology
Published: March 23, 2026
HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.
Journal: American journal of human genetics
Published: December 22, 2025
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Journal: Nature genetics
Published: June 02, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Journal: medRxiv : the preprint server for health sciences
Published: January 20, 2025
Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing.
Journal: Genome medicine
Published: September 16, 2024
HiFi long-read genomes for difficult-to-detect, clinically relevant variants.
Journal: American journal of human genetics
Published: August 31, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Journal: medRxiv : the preprint server for health sciences
Published: May 15, 2024
Last Updated: 09/26/2026