Iván K. Chinn

机构：Baylor College of Medicine, Texas Children's Hospital · ORCID：0000-0001-5684-5457

发表论文 168 篇 · 总被引 6168 次 · h-index 41

代表论文

• Monoallelic expression can govern penetrance of inborn errors of immunity (2025 · Nature · 被引 84)
• GREGoR: accelerating genomics for rare diseases (2025 · Nature · 被引 16)
• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 12)
• Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency (2025 · Journal of Allergy and Clinical Immunology · 被引 9)
• DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders (2025 · The American Journal of Human Genetics · 被引 7)
• 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 6)