Last Posted: Jun 30, 2020
- Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.
Mangaonkar Abhishek A et al. Mayo Clinic proceedings 2020 Jun
- Emerging Therapeutic Approaches for Diamond Blackfan Anemia.
Aspesi Anna et al. Current gene therapy 2018 18(6) 327-335
- Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation.
Dietz Andrew C et al. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2017 May 23(5) 726-735
- Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach.
Kedar Prabhakar S et al. International journal of hematology 2019 Aug
- An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia.
Da Costa Lydie et al. F1000Research 2018 7
- Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease.
Alsultan Abdulrahman et al. Genetic testing and molecular biomarkers 2018 Sep
- Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes.
West Allison H et al. Hematology. American Society of Hematology. Education Program 2017 2017(1) 79-87
- Acquired and germline predisposition to bone marrow failure: Diagnostic features and clinical implications.
Kallen Michael E et al. Seminars in hematology 2019 56(1) 69-82
- Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders.
Gansner John M et al. American journal of hematology 2018 Jun
- Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.
Russo Roberta et al. American journal of hematology 2018 Feb
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.