Amber den Ouden

Radboud University Nijmegen — Netherlands

Biochemistry, Genetics and Molecular Biology · Life Sciences

8h-index248citations16works10.42yr avg
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Research Topics

Genomics and Rare Diseases(11), Genomic variations and chromosomal abnormalities(5), Genomics and Phylogenetic Studies(3), Retinal Development and Disorders(3), Cancer Genomics and Diagnostics(3)

Publications16 total

Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing
Genome Medicine·2026Open Access
Clinical long-read genome sequencing for rare disease diagnostics
2026Open Access
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Genome Research·2025· 16 citedOpen Access
HiFi long-read genomes for difficult-to-detect, clinically relevant variants
The American Journal of Human Genetics·2025· 22 citedOpen Access
HiFi long-read genomes for difficult-to-detect clinically relevant variants
2024· 2 citedOpen Access
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
npj Genomic Medicine·2024Open Access
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
2024· 19 citedOpen Access
The effect of air-free administration of intravenous drugs on microemboli during cardiopulmonary bypass
Perfusion·2024
Genome sequencing as a generic diagnostic strategy for rare disease
Genome Medicine·2024· 35 citedOpen Access
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
European Journal of Human Genetics·2023· 2 citedOpen Access
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
European Journal of Human Genetics·2023· 18 citedOpen Access
Genome sequencing as a generic diagnostic strategy for rare disease
2023· 3 citedOpen Access
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA
npj Genomic Medicine·2022· 21 citedOpen Access
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
European Journal of Human Genetics·2022· 87 citedOpen Access
Long-read technologies identify a hidden inverted duplication in a family with choroideremia
Human Genetics and Genomics Advances·2021· 23 citedOpen Access
Long-read technologies unravel hidden inversion-duplication in a family with choroideremia
Investigative Ophthalmology & Visual Science·2021Open Access

Frequent Co-authors

Ronny Derks(13), Lisenka E.L.M. Vissers(13), Christian Gilissen(11), Hilde Swinkels(7), Helger G. Yntema(7), Marjan M. Weiss(7), Arthur van den Wijngaard(6), Marcel Nelen(6), Kornelia Neveling(6), Luke O’Gorman(6), Alexander Hoischen(6), Simone van den Heuvel(6), Han G. Brunner(5), Dorien Lugtenberg(5), Alexander P.A. Stegmann(4), Tom Hofste(4), Erik‐Jan Kamsteeg(4), Wouter Steyaert(4), German Demidov(4), Volker Straub(4)