Timothy J. Aitman

机构：Edinburgh Cancer Research · ORCID：0000-0002-7875-4502

发表论文 254 篇 · 总被引 16946 次 · h-index 67

代表论文

• Whole-genome sequencing of patients with rare diseases in a national health system (2020 · Nature · 被引 588)
• Whole-genome sequencing of a sporadic primary immunodeficiency cohort (2020 · Nature · 被引 246)
• Inherited Thoracic Aortic Disease (2020 · Circulation · 被引 92)
• Ancient DNA at the edge of the world: Continental immigration and the persistence of Neolithic male lineages in Bronze Age Orkney (2022 · Proceedings of the National Academy of Sciences · 被引 74)
• Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules (2024 · Science · 被引 52)
• GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements (2022 · Nature Communications · 被引 48)