Elena Repnikova

机构：Children's Mercy Hospital, Mercy Hospital, University of Missouri–Kansas City · ORCID：0000-0002-8797-5227

发表论文 75 篇 · 总被引 882 次 · h-index 15

代表论文

• Successful classification of clinical pediatric leukemia genetic subtypes via structural variant detection using HiFi long-read sequencing (2024 · medRxiv · 被引 4)
• A multicenter analysis of individuals with a 47,XXY/46,XX karyotype (2024 · Genetics in Medicine · 被引 3)
• Sialylation in the nervous system: Functions and mechanisms (2026 · Journal of Biological Chemistry · 被引 1)
• Expanded map of genomic imprinting reveals insight into human disease (2025 · medRxiv · 被引 1)
• Pediatric spinal ependymoma with chromothripsis of chromosome 6: a case report and review of the literature (2024 · Journal of Medical Case Reports · 被引 1)
• An atypical RUNX1::ETV6::RUNX1 fusion in a pediatric patient with precursor B-cell acute lymphoblastic leukemia (2026 · Cancer Genetics)