Last Posted: Jun 22, 2021
- Impact of phosphoinositide-3-kinase and vitamin D3 nuclear receptor single-nucleotide polymorphisms on the outcome of malignant melanoma patients.
Morgese Francesca, et al. Oncotarget 2017 11 (44) 75914-75923
- NTRK Fusions Identified in Pediatric Tumors: The Frequency, Fusion Partners, and Clinical Outcome.
Zhao Xiaonan et al. JCO precision oncology 2021 1
- Canadian Consensus for Biomarker Testing and Treatment of TRK Fusion Cancer in Pediatric Patients.
Perreault Sébastien et al. Current oncology (Toronto, Ont.) 2021 Jan 28(1) 346-366
- Association between MAFB rs17820943 and rs6072081 polymorphism and risk of nonsyndromic cleft lip with or without cleft palate: a meta-analysis.
Liang X, et al. The British journal of oral & maxillofacial surgery 2020 7
- Gene-gene interactions between BMP4 and ARHGAP29 among non-syndromic cleft lip only (NSCLO) trios from western Han Chinese population.
Wang Yiru, et al. International journal of clinical and experimental pathology 2020 0 (2) 295-301
- ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology.
Scotto di Carlo Federica, et al. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2020 2
- TRK Fusion Cancers in Children: A Clinical Review and Recommendations for Screening.
Albert Catherine M et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2019 37(6) 513-524
- Radiotherapy-induced malignancies in breast cancer patients with TP53 pathogenic germline variants (Li-Fraumeni syndrome).
Petry Vanessa, et al. Familial cancer 2019 11
- 'Revolutionary' new class of cancer drugs approved
J Gallagher, BBC News, September 23, 2019
- Population-level effect of molecular testing and targeted therapy in patients with advanced pulmonary adenocarcinoma: a prospective cohort study.
Schwegler Christine, et al. Virchows Archiv : an international journal of pathology 2018 4 (4) 581-588
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.