
World Birth Defects Day, March 3, 2021
CDC, March 2021
Rare Diseases – a Research Priority for Everyone
AR Pariser, BMC medicine blog, February 2021
Machine Learning of Patient Characteristics to Predict Admission Outcomes in the Undiagnosed Diseases Network
H Amiri et al, JAMA Network Open, February 25, 2021
Rare versus common diseases: a false dichotomy in precision medicine
B Hon et al, NPJ Genomic Medicine, February 24, 2021


Campbell J Peter et al. Pediatrics 2021
Automatic multilabel detection of ICD10 codes in Dutch cardiology discharge letters using neural networks.

Sammani Arjan et al. NPJ digital medicine 2021 4(1) 37
Trends of pulmonary fungal infections from 2013-2019: an AI-based real-world observational study in Guangzhou, China.

Li Zhengtu et al. Emerging microbes & infections 2021 1-31
A serum-based DNA methylation assay provides accurate detection of glioma.

Sabedot Thais et al. Neuro-oncology 2021 Feb
Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots.

Wijaya Yogik Onky Silvana et al. International journal of neonatal screening 2020 May 6(2)
Clinical significance of E148Q heterozygous variant in paediatric Familial Mediterranean Fever.

Tirosh Irit et al. Rheumatology (Oxford, England) 2021 Feb
Constructing a Bioethical Framework to Evaluate and Optimise Newborn Bloodspot Screening for Cystic Fibrosis.

Armstrong Rachael E et al. International journal of neonatal screening 2020 May 6(2)
Identification of 6 gene markers for survival prediction in osteosarcoma cases based on multi-omics analysis.

Li Runmin et al. Experimental biology and medicine (Maywood, N.J.) 2021 Feb 1535370221992015
Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis.

Munck Anne et al. International journal of neonatal screening 2020 Mar 6(1)
Newborn Screening for CF across the Globe- Where Is It Worthwhile ?

Scotet Virginie et al. International journal of neonatal screening 2020 Mar 6(1)
More
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 and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
- CDC Information (243)
- NIH Information (6457)
- COVID-19 (1998)
- CDC Publications (698)
- Human Genome Epidemiologic Studies (30215)
- GWAS Studies (540)
- Human Genomics Translation/Implementation Studies (4003)
- Genomic Tests Evidence Synthesis (410)
- Genomic Tests Guidelines (262)
- Tier-Classified Guidelines (142)
- Non-Genomics Precision Health (318)
- Pathogen Advanced Molecular Detection (1998)
- State Public Health Genomics Programs (193)
- Reviews/Commentaries (2133)
- Tools/Methods (48)
- Ethical/Legal and Social Issues (ELSI) (66)
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
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:Mar 04, 2021
- Content source: