Wendy J. Introne

机构：National Institutes of Health, Mount Sinai Hospital, National Human Genome Research Institute, Office of the Director, Mount Sinai Hospital, National Institutes of Health Clinical Center, Icahn School of Medicine at Mount Sinai · ORCID：0000-0003-2422-9750

发表论文 122 篇 · 总被引 4369 次 · h-index 30

代表论文

• Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans (2024 · The Journal of Experimental Medicine · 被引 39)
• Type 2 innate immunity promotes the development of pulmonary fibrosis in Hermansky-Pudlak syndrome (2024 · JCI Insight · 被引 13)
• Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis (2024 · Blood · 被引 11)
• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 10)
• Chedíak-Higashi Syndrome: Hair-to-toe spectrum (2024 · Seminars in Pediatric Neurology · 被引 10)
• Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations (2025 · Nature Communications · 被引 5)