Jennefer N. Carter

机构：Stanford Health Care, Stanford University · ORCID：0000-0003-0830-3535

发表论文 19 篇 · 总被引 264 次 · h-index 5

代表论文

• Biomni: A General-Purpose Biomedical AI Agent (2025 · bioRxiv (Cold Spring Harbor Laboratory) · 被引 109)
• Genotype-phenotype correlations in individuals with pathogenic RERE variants (2018 · Human Mutation · 被引 58)
• The first report of nephrocalcinosis in a patient with a 16q23.1–16q23.3 deletion, global developmental delay, trigonocephaly, and portocaval shunt (2013 · Clinical Dysmorphology · 被引 36)
• Brain Arteriovenous Malformations in Patients With Hereditary Hemorrhagic Telangiectasia: Clinical Presentation and Anatomical Distribution (2013 · Pediatric Neurology · 被引 31)
• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 10)
• Researcher views on returning results from multi-omics data to research participants: insights from The Molecular Transducers of Physical Activity Consortium (MoTrPAC) Study (2025 · BMC Medical Ethics · 被引 3)