Casie A. Genetti

机构：Boston Children's Hospital, Harvard University, Harvard University Press, Boston Children's Museum, Dana-Farber/Boston Children's Cancer and Blood Disorders Center · ORCID：0000-0003-4173-9947

发表论文 141 篇 · 总被引 5185 次 · h-index 32

代表论文

• Toward Same-Day Genome Sequencing in the Critical Care Setting (2025 · New England Journal of Medicine · 被引 11)
• Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions (2025 · medRxiv · 被引 3)
• Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions (2025 · European Journal of Human Genetics · 被引 3)
• Implementing customized genomic sequencing reports to empower providers in safety-net neonatal intensive care units (2025 · Genetics in Medicine · 被引 2)
• Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy (2025 · Neurology Genetics · 被引 2)
• Missense variants in TUBA4A cause myo-tubulinopathies (2025 · medRxiv · 被引 2)