Eric J. Allenspach

机构：Center for Infectious Disease Research, Seattle Children's Hospital, University of Washington, Seattle Children's Hospital

发表论文 96 篇 · 总被引 3959 次 · h-index 31

代表论文

• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 10)
• The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2 (2025 · Genetics in Medicine · 被引 5)
• Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations (2025 · Nature Communications · 被引 5)
• Targeted deep sequencing identifies mosaicism in patients with immune dysregulation (2026 · Journal of Allergy and Clinical Immunology · 被引 4)
• Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association (2026 · Genetics in Medicine · 被引 3)
• Reduced Function of the Adaptor SH2B3 Promotes T1D via Altered Cytokine-Regulated, T-Cell–Intrinsic Immune Tolerance (2025 · Diabetes · 被引 2)