Genotype‐phenotype associations in individuals with Diamond Blackfan anaemia
This detailed genotype-phenotype study of DBA improves our understanding of the role of germline genetics in the clinical manifestations that may help guide the management of people with DBA.
Authors
- Sharon A. Savage (ORCID: https://orcid.org/0000-0001-6006-0740)
- Blanche P. Alter (ORCID: https://orcid.org/0000-0001-8458-7774)
- Kyra Jennifer Waligora Mendez
- Shahinaz M. Gadalla (ORCID: https://orcid.org/0000-0002-3255-8143)
- Neelam Giri (ORCID: https://orcid.org/0000-0001-7353-1863)
- Sarah Cole (ORCID: https://orcid.org/0000-0002-9979-7093)
- D. Matthew Gianferante (ORCID: https://orcid.org/0000-0003-4126-2093)
Institutions
- Uniformed Services University of the Health Sciences (US)
- Walter Reed National Military Medical Center (US)
- National Cancer Institute (US)
- Division of Cancer Epidemiology and Genetics
Publication Details
- Journal
- eJHaem
- Published
- 2024-10-16
- DOI
- https://doi.org/10.1002/jha2.1031
- Citations
- 1
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.23
Funders
- U.S. Department of Health and Human Services
- National Cancer Institute
- Division of Cancer Epidemiology and Genetics, National Cancer Institute