P328: Integration of a bone marrow failure germline panel into the comprehensive clinical genomics pipeline at St. Jude Children’s Research Hospital
Bone marrow failure (BMF) is characterized by the bone marrow’s inability to produce sufficient blood cells, leading to cytopenias in one or more hematopoietic lineages. These disorders can be either acquired or inherited, with inherited bone marrow failure syndromes often manifesting in childhood or adolescence. Advances in genomic characterization have significantly improved the diagnosis and management of BMF, offering substantial benefits for patients and their families by enabling early disease detection and helping to distinguish overlapping features with other conditions.
Authors
- Michael Rusch (ORCID: https://orcid.org/0000-0002-5363-1848)
- Jennifer Neary (ORCID: https://orcid.org/0000-0002-0036-6067)
- Taylor Cain
- Jamie L. Maciaszek (ORCID: https://orcid.org/0000-0002-9217-5638)
- Marcin W. Włodarski (ORCID: https://orcid.org/0000-0001-6638-9643)
- Mark R. Wilkinson (ORCID: https://orcid.org/0000-0001-9135-3394)
- Jeffery M. Klco (ORCID: https://orcid.org/0000-0003-2961-6960)
- Michelle Boals
- Nathan Gray (ORCID: https://orcid.org/0009-0000-8030-9670)
- Sara E. Lewis (ORCID: https://orcid.org/0000-0001-8119-7076)
- Enrico Attardi (ORCID: https://orcid.org/0009-0008-4801-5048)
- Victor Pastor Loyola
- Passant Shaker (ORCID: https://orcid.org/0000-0001-9750-9310)
- Lu Wang (ORCID: https://orcid.org/0000-0002-5881-6139)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102293
- Primary Topic
- Hematological disorders and diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00