Simone van den Heuvel

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

Gaby Schobers, Jolanda Schieving, Helger G. Yntema et al. · Genome Medicine · 2022 · 59 citations · Full text

Life Sciences, Genetics, Neurology +17

Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome

Iris te Paske, Arjen R. Mensenkamp, Kornelia Neveling et al. · Gastroenterology · 2022 · 33 citations · Full text

Life Sciences, Genetics, Oncology +17

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 · 31 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

Wouter Steyaert, Lydia Sagath, German Demidov et al. · Genome Research · 2025 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

Wouter Steyaert, Lydia Sagath, German Demidov et al. · medRxiv · 2024 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17