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Last Posted: Dec 12, 2023
- Development and deployment of a smartphone application for diagnosing trachoma: Leveraging code-free deep learning and edge artificial intelligence.
Daniel Milad et al. Saudi J Ophthalmol 2023 37(3) 200-206 - The Importance of Neonatal Screening for Galactosemia.
Badiu Ti?a Ioana et al. Nutrients 2023 15(1) - MALDI-TOF-MS for Rapid Screening and Typing of β-Globin Variant and β-Thalassemia through Direct Measurements of Intact Globin Chains.
Zhang Qianqian et al. Clinical chemistry 2022 - Healthcare professionals' perspectives on implementation of universal tumor DNA testing in ovarian cancer patients: multidisciplinary focus groups.
Witjes Vera M et al. Familial cancer 2022 - A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease.
Rampersaud Evadnie et al. Blood advances 2021 5(14) 2839-2851 - The impact of viral mutations on recognition by SARS-CoV-2 specific T-cells
TI de Silva et al, BIORXIV, April 8, 2021 - Current Application of Digital Diagnosing Systems for Retinopathy of Prematurity.
Bao Yuekun et al. Computer methods and programs in biomedicine 2020 Nov 105871 - A distinctive DNA methylation pattern in insufficient sleep.
Lahtinen Alexandra et al. Scientific reports 2019 Feb 9(1) 1193 - Diagnostic value and lymph node metastasis prediction of a custom‑made panel (thyroline) in thyroid cancer.
Ke Zunfu et al. Oncology reports 2018 Jun - A randomized trial Examining The Impact Of Communicating Genetic And Lifestyle Risks For Obesity.
Wang Catharine et al. Obesity (Silver Spring, Md.) 2016 Dec 24(12) 2481-2490
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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
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 Public Health Genomics Branch 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:Feb 1, 2024
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