Christian Gilissen

机构：Radboud University Nijmegen, University Medical Center, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences · ORCID：0000-0003-1693-9699

发表论文 367 篇 · 总被引 29115 次 · h-index 89

代表论文

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses (2025 · Nature Medicine · 被引 58)
Genome sequencing as a generic diagnostic strategy for rare disease (2024 · Genome Medicine · 被引 48)
HiFi long-read genomes for difficult-to-detect, clinically relevant variants (2025 · The American Journal of Human Genetics · 被引 40)
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing (2025 · Genome Research · 被引 36)
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation (2023 · Nature Communications · 被引 30)
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples (2023 · European Journal of Human Genetics · 被引 26)