Last Posted: Feb 27, 2020
- Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.
Muñoz Gloria et al. JIMD reports 2020 Jan 51(1) 53-61
- Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.
Chien Yin-Hsiu et al. Orphanet journal of rare diseases 2020 Feb 15(1) 38
- Gaucher Disease in Bone: From Pathophysiology to Practice.
Hughes Derralynn et al. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019 Jun
- Epigenetic cancer evolution, one cell at a time.
Perdigoto Carolina N, et al. Nature reviews. Genetics 2019 8 0. (8) 434-435
- Three cases of multi-generational Gaucher disease and colon cancer from an Ashkenazi Jewish family: A lesson for cascade screening.
Hannah-Shmouni Fady et al. Molecular genetics and metabolism reports 2019 Mar 1819-21
- Budget Impact Analysis of Eliglustat for the Treatment of Gaucher Disease Type 1 in the United States.
Nalysnyk Luba et al. Journal of managed care & specialty pharmacy 2018 Oct 24(10) 1002-1008
- Hepatocellular carcinoma in Gaucher disease: Reinforcing the proposed guidelines.
Starosta Rodrigo Tzovenos et al. Blood cells, molecules & diseases 2018 Oct
- Pharmacological treatment of pediatric Gaucher disease.
Gupta Punita et al. Expert review of clinical pharmacology 2018 Nov
- Local Coverage Determination (LCD): Biomarkers Overview (L35062)
The U.S. Centers for Medicare & Medicaid Services
- Recent advances in the diagnosis and management of Gaucher disease.
Gary Sam E et al. Expert review of endocrinology & metabolism 2018 Mar 13(2) 107-118
- CLINGEN Actionability Report for Gaucher Disease - GBA
ClinGen Actionability Working Group
- Children with type 1 Gaucher disease: Changing profiles in the 21st century.
Elstein Deborah et al. Blood cells, molecules & diseases 2018 Feb 6893-96
- Fetal gene therapy for neurodegenerative disease of infants.
Massaro Giulia et al. Nature medicine 2018 Jul
- Precision Public Health: What is it?
M Khoury, CDC Blog Post, May 15, 2018
- A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China.
Lei Ke et al. Orphanet journal of rare diseases 2018 Apr 13(1) 48
- NIH Information (5)
- CDC Publications (1)
- Human Genome Epidemiologic Studies (94)
- GWAS Studies (1)
- Human Genomics Translation/Implementation Studies (20)
- Genomic Tests Evidence Synthesis (4)
- Genomic Tests Guidelines (2)
- State Public Health Genomics Programs (1)
- Reviews/Commentaries (8)
- Tools/Methods (1)
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
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- 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.