Last Posted: Mar 03, 2022
- Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit.
Escudero Adela et al. International journal of clinical oncology 2022
- Next-generation Sequencing of Cerebrospinal Fluid for Clinical Molecular Diagnostics in Pediatric, Adolescent and Young Adult (AYA) Brain Tumor Patients.
Miller Alexandra M et al. Neuro-oncology 2022
- Clinical Utility of CDK4/6 Inhibitors in Sarcoma: Successes and Future Challenges.
Hsu Jocelyn Y et al. JCO precision oncology 2022 6e2100211
- Monitoring Retinoblastoma by Machine Learning of Aqueous Humor Metabolic Fingerprinting.
Liu Wanshan et al. Small methods 2022 6(1) e2101220
- Long-read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis.
Watson Christopher M et al. Prenatal diagnosis 2022
- Parental age and retinoblastoma-a retrospective study of demographic data and genetic analysis.
Tanwar Meghana et al. Eye (London, England) 2021
- How the germline informs the somatic landscape.
Chanock Stephen J et al. Nature genetics 2021 11 (11) 1523-1525
- Retinoblastoma genetics screening and clinical management.
Gupta Himika et al. BMC medical genomics 2021 14(1) 188
- Genetic predisposition to fetal and neonatal cancer.
Escudero A et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2021 Jan
- A review of inherited cancer susceptibility syndromes.
Brown Gina R et al. JAAPA : official journal of the American Academy of Physician Assistants 2020 Dec 33(12) 10-16
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
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
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.