Holm Graeßner

机构：University Children's Hospital Tübingen, STZ eyetrial, University of Tübingen · ORCID：0000-0001-9803-7183

发表论文 133 篇 · 总被引 2321 次 · h-index 27

代表论文

• Global health for rare diseases through primary care (2024 · The Lancet Global Health · 被引 61)
• Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses (2025 · Nature Medicine · 被引 58)
• Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings (2024 · Nature Genetics · 被引 55)
• The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap (2024 · Nature Reviews Drug Discovery · 被引 40)
• Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing (2025 · Genome Research · 被引 36)
• Twist exome capture allows for lower average sequence coverage in clinical exome sequencing (2023 · Human Genomics · 被引 34)