O37: One test fits all: Clinical HiFi sequencing for pediatric rare disease
fibrosis were unchanged including patients who stopped ERT.All patients remained healthy, and no severe adverse events were reported after the initial transplant period.All patients showed polyclonal marking of peripheral blood cells and no evidence of secondary malignancies to date.
Authors
- Ana S.A. Cohen (ORCID: https://orcid.org/0000-0002-6353-6350)
- Joseph T. Alaimo (ORCID: https://orcid.org/0000-0002-1193-4701)
- Isabelle Thiffault
- Tomi Pastinen (ORCID: https://orcid.org/0000-0003-4016-5021)
- Charlie Bi
- Emily Farrow (ORCID: https://orcid.org/0000-0002-8864-7073)
- Byunggil Yoo (ORCID: https://orcid.org/0000-0002-7912-1862)
- Cassandra Barrett (ORCID: https://orcid.org/0000-0003-0756-2180)
- Carol Saunders (ORCID: https://orcid.org/0000-0002-7407-7735)
- Margaret Gibson
Institutions
- Children's Mercy Hospital (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102113
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00