Rare Diseases
What's New
Last Posted: Dec 15, 2020
- A literature review on the parvovirus B19 infection in sickle cell anemia and β-thalassemia patients.
Soltani Saber et al. Tropical medicine and health 2020 Dec 48(1) 96 - Angiotensinogen M235T polymorphism and susceptibility to hypertrophic cardiomyopathy in Asian population: A meta analysis.
Zhen Zhen et al. Journal of the renin-angiotensin-aldosterone system : JRAAS 21(4) 1470320320978100 - Droplet Digital PCR for Large Genomic Rearrangements detection: a promising strategy in tissue BRCA1 testing.
De Paolis Elisa et al. Clinica chimica acta; international journal of clinical chemistry 2020 Dec - Genetic variants of ABCC8 and phenotypic features in Chinese early onset diabetes.
Li Meng et al. Journal of diabetes 2020 Dec - Machine learning can predict disease manifestations and outcomes in lymphangioleiomyomatosis.
Chernbumroong Saisakul et al. The European respiratory journal 2020 Dec - Neural-Network-Based Diagnosis Using 3-Dimensional Myocardial Architecture and Deformation: Demonstration for the Differentiation of Hypertrophic Cardiomyopathy.
Satriano Alessandro et al. Frontiers in cardiovascular medicine 2020 7584727 - Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR).
Carrera William et al. Ophthalmic genetics 2020 Dec 1-4 - Organoids for personalized treatment of Cystic Fibrosis: Professional perspectives on the ethics and governance of organoid biobanking.
Lensink Michael A et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Dec - Prognostic Value of EZH2 in Non-Small-Cell Lung Cancers: A Meta-Analysis and Bioinformatics Analysis.
Fan Kui et al. BioMed research international 2020 20202380124 - Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Fortuno Cristina et al. Human mutation 2020 Dec - Informing about genetic risk in families with Huntington disease: comparison of attitudes across two decades.
Pierron Lucie et al. European journal of human genetics : EJHG 2020 Dec - mRNA Vaccine Era-Mechanisms, Drug Platform and Clinical Prospection.
Xu Shuqin et al. International journal of molecular sciences 2020 Sep 21(18) - [Significance of Targeted Sequencing Assay for Patients with Suspected Myeloid Malignancies].
Zhang Li-Juan et al. Zhongguo shi yan xue ye xue za zhi 2020 Dec 28(6) 1985-1990 - Computer-aided diagnosis of esophageal cancer and neoplasms in endoscopic images: a systematic review and meta-analysis of diagnostic test accuracy.
Bang Chang Seok et al. Gastrointestinal endoscopy 2020 Dec - Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.
Posset Roland et al. Molecular genetics and metabolism 2020 Nov - Assessing the current knowledge, attitude and behaviour of adolescents and young adults living with haemophilia.
Mohan Richa et al. Haemophilia : the official journal of the World Federation of Hemophilia 2020 Dec - Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy
P Yu et al, Sci Trans Med, December 9, 2020 - Breast cancer associated pathogenic variants among women 61 years and older with triple negative breast cancer.
Chávarri-Guerra Yanin et al. Journal of geriatric oncology 2020 Dec - Characterization of syndromic, non-syndromic familial, and sporadic Type B Aortic Dissection.
Shalhub Sherene et al. Journal of vascular surgery 2020 Nov - Gene therapy for sickle cell disease.
Olowoyeye Abiola et al. The Cochrane database of systematic reviews 2020 Nov 11CD007652
About Rare Diseases PHGKB
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 discoveries into improved health outcomes related to rare diseases...more
Content Summary
- CDC Information (168)
- NIH Information (6407)
- COVID-19 (1589)
- CDC Publications (465)
- Human Genome Epidemiologic Studies (29276)
- GWAS Studies (535)
- Human Genomics Translation/Implementation Studies (3811)
- Genomic Tests Evidence Synthesis (396)
- Genomic Tests Guidelines (258)
- Tier-Classified Guidelines (136)
- Non-Genomics Precision Health (304)
- Pathogen Advanced Molecular Detection (1949)
- State Public Health Genomics Programs (193)
- Reviews/Commentaries (2056)
- Tools/Methods (46)
- Ethical/Legal and Social Issues (ELSI) (61)
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- 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.
- Page last reviewed:Oct 1, 2020
- Page last updated:Dec 17, 2020
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