Outi Kuismin

机构：Oulu University Hospital, University of Oulu · ORCID：0000-0002-0157-8985

发表论文 87 篇 · 总被引 1862 次 · h-index 19

代表论文

• Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis (2024 · Cell Reports Medicine · 被引 19)
• Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis (2024 · Journal of Clinical Immunology · 被引 11)
• Clinical, radiological and histopathological features of patients with familial pulmonary fibrosis (2024 · Respiratory Research · 被引 7)
• XMEN disease caused by the novel MAGT1 p.(Trp136*) mutation may present with neuropsychiatric symptoms (2024 · Journal of Neuroimmunology · 被引 5)
• Hyperkinetic Movement Disorder Caused by the Recurrent c. 892C >T NACC1 Variant (2024 · Movement Disorders Clinical Practice · 被引 4)
• What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis (2025 · European Journal of Human Genetics · 被引 2)