Jennifer Ellen Posey

机构：Baylor College of Medicine, Columbia University · ORCID：0000-0003-4814-6765

发表论文 334 篇 · 总被引 10111 次 · h-index 52

代表论文

• Improving automated deep phenotyping through large language models using retrieval-augmented generation (2025 · Genome Medicine · 被引 20)
• GREGoR: accelerating genomics for rare diseases (2025 · Nature · 被引 18)
• Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach (2025 · The American Journal of Human Genetics · 被引 10)
• Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency (2025 · Journal of Allergy and Clinical Immunology · 被引 9)
• Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes (2026 · Nature Genetics · 被引 7)
• Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation (2025 · The American Journal of Human Genetics · 被引 7)