Amber L. Den Ouden
Nijmegen, GE, Netherlands
Last Updated: 09/26/2026
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Found 15 publications
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.
Journal: The New England journal of medicine
Published: June 15, 2026
Distinct mechanisms of CNV formation at the human 15q13.3 locus.
Journal: bioRxiv : the preprint server for biology
Published: March 23, 2026
Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema.
Journal: Journal of clinical immunology
Published: June 27, 2025
Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing.
Journal: Genome medicine
Published: September 16, 2024
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Journal: Genome research
Published: March 28, 2024
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
Journal: European journal of human genetics : EJHG
Published: November 17, 2023
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.
Journal: NPJ genomic medicine
Published: September 26, 2023
Genome sequencing as a generic diagnostic strategy for rare disease.
Journal: Genome medicine
Published: September 21, 2023
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
Journal: European journal of human genetics : EJHG
Published: November 01, 2022
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
Journal: European journal of human genetics : EJHG
Published: June 07, 2022
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.
Journal: NPJ genomic medicine
Published: February 25, 2022
Last Updated: 09/26/2026