Last Posted: Oct 18, 2019
- Emerging Therapeutic Approaches for Diamond Blackfan Anemia.
Aspesi Anna et al. Current gene therapy 2018 18(6) 327-335
- Late Effects Screening Guidelines 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 HCT.
Dietz Andrew C et al. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2017 Sep 23(9) 1422-1428
- Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia.
Río Paula, et al. Nature medicine 2019 0 0. (9) 1396-1401
- 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
- Risks of Solid Tumors in Heterozygous Carriers of Recessive Syndromes.
Koudov? Monika et al. Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2019 32(Supplementum2) 14-23
- The diagnostic utility of targeted gene panel sequencing in discriminating etiologies of cytopenia.
Zheng Gang et al. American journal of hematology 2019 Jul
- [Genetic analysis of Japanese patients with Fanconi anemia: novel findings].
Mori Minako et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2019 60(6) 691-701
- Clinical applicability of proposed algorithm for identifying individuals at risk for hereditary hematologic malignancies.
Clifford Maggie et al. Leukemia & lymphoma 2019 Jul 1-8
- Genetic predisposition to MDS: clinical features and clonal evolution.
Kennedy Alyssa L et al. Blood 2019 Jan
- Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia.
Bogliolo Massimo et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 20(4) 458-463
- Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
Catucci Irene et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 20(4) 452-457
- An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia.
Da Costa Lydie et al. F1000Research 2018 7
- Clinical implications of somatic mutations in aplastic anemia and myelodysplastic syndrome in genomic age.
Maciejewski Jaroslaw P et al. Hematology. American Society of Hematology. Education Program 2017 2017(1) 66-72
- Local Coverage Determination (LCD): Flow Cytometry (L33661)
The U.S. Centers for Medicare & Medicaid Services
- 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
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
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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.