Gabrielle Lemire

机构：Broad Institute, Children's Hospital of Eastern Ontario · ORCID：0000-0002-2834-6973

发表论文 69 篇 · 总被引 1815 次 · h-index 21

代表论文

• Genome Sequencing for Diagnosing Rare Diseases (2024 · New England Journal of Medicine · 被引 195)
• De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome (2024 · Nature · 被引 128)
• Vaccination with mRNA-encoded nanoparticles drives early maturation of HIV bnAb precursors in humans (2025 · Science · 被引 68)
• Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection (2025 · The American Journal of Human Genetics · 被引 44)
• Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease (2024 · The American Journal of Human Genetics · 被引 26)
• Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project (2024 · Human Genomics · 被引 19)