Xueyang Pan

机构：Baylor College of Medicine · ORCID：0000-0003-4453-4971

发表论文 56 篇 · 总被引 1387 次 · h-index 19

代表论文

• De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features (2024 · The American Journal of Human Genetics · 被引 11)
• COL3A1, COL5A1 and COL6A2 serve as potential molecular biomarkers for osteoarthritis based on weighted gene co‑expression network analysis bioinformatics analysis (2023 · Experimental and Therapeutic Medicine · 被引 9)
• Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays (2023 · eLife · 被引 8)
• Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays (2023 · eLife · 被引 6)
• 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)
• Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma (2024 · Genetics in Medicine · 被引 3)