Amber den Ouden

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

Bart van der Sanden, Gaby Schobers, Jordi Corominas Galbany et al. · European Journal of Human Genetics · 2022 · 87 citations · Full text

Genetic Epidemiology, Diagnosis, Disease Gene Identification +21

Genome sequencing as a generic diagnostic strategy for rare disease

Gaby Schobers, Ronny Derks, Amber den Ouden et al. · Genome Medicine · 2024 · 34 citations · Full text

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

Zeinab Fadaie, Kornelia Neveling, Tuomo Mantere et al. · Human Genetics and Genomics Advances · 2021 · 23 citations · Full text

HiFi long-read genomes for difficult-to-detect, clinically relevant variants

Wolfram Höps, Marjan M. Weiss, Ronny Derks et al. · The American Journal of Human Genetics · 2025 · 22 citations · Full text

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 et al. · npj Genomic Medicine · 2022 · 21 citations · Full text