Amber den Ouden - Concepedia

Author

Amber den Ouden

Also Known As

Amber den Ouden

Publications

247

Citations

H-Index

Concepts

All Affiliations

Amber den Ouden is an author at Radboud University Nijmegen specializing in diagnosis, neonatal genomics, and sequencing.

#	Concept	H-Index	Publications	Citations
1	Medicine	1	1	87
2	Public Health	1	1	87
3	Neurology	1	1	87
4	Neuroscience	1	1	87
5	Psychiatry	1	1	87

Amber den Ouden

Publications

240

Citations

H-Index

Page 1

	Year	Citations
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders Bart van der Sanden, Gaby Schobers, Jordi Corominas Galbany, European Journal of Human Genetics Genetic EpidemiologyDiagnosisDisease Gene IdentificationDiagnostic YieldNeonatal Genomics	2022	87
Genome sequencing as a generic diagnostic strategy for rare disease Gaby Schobers, Ronny Derks, Amber den Ouden, Genome Medicine	2024	34
Long-read technologies identify a hidden inverted duplication in a family with choroideremia Zeinab Fadaie, Kornelia Neveling, Tuomo Mantere, Human Genetics and Genomics Advances	2021	23
HiFi long-read genomes for difficult-to-detect, clinically relevant variants Wolfram Höps, Marjan M. Weiss, Ronny Derks, The American Journal of Human Genetics	2025	22
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA Lonneke Haer‐Wigman, Amber den Ouden, Maria M. van Genderen, npj Genomic Medicine	2022	21
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing Wouter Steyaert, Lydia Sagath, German Demidov,	2024	19
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples Robin Wijngaard, German Demidov, Luke O’Gorman, European Journal of Human Genetics	2023	18
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing Wouter Steyaert, Lydia Sagath, German Demidov, Genome Research	2025	16

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