Last Posted: Oct 21, 2021
- Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.
Kumamoto Tadashi et al. International journal of clinical oncology 2021
- The genomics and epigenetics of olfactory neuroblastoma: A systematic review.
Kaur Raman Preet et al. Laryngoscope investigative otolaryngology 2021 6(4) 721-728
- Differential Impact of ALK Mutations in Neuroblastoma.
O'Donohue Tara et al. JCO precision oncology 2021 5
- Development and Evaluation of a Leukemia Diagnosis System Using Deep Learning in Real Clinical Scenarios.
Zhou Min et al. Frontiers in pediatrics 2021 9693676
- The MicroRNA Landscape of MYCN-Amplified Neuroblastoma.
Misiak Danny et al. Frontiers in oncology 2021 11647737
- A Targeted Gene Panel for Circulating Tumor DNA Sequencing in Neuroblastoma.
Cimmino Flora et al. Frontiers in oncology 2020 10596191
- Metastatic Burden Defines Clinically and Biologically Distinct Subgroups of Stage 4 High-Risk Neuroblastoma.
Seo Eun Seop et al. Journal of clinical medicine 2020 Aug 9(9)
- Genomic co-amplification of CDK4/MDM2/FRS2 is associated with very poor prognosis and atypical clinical features in neuroblastoma patients.
Amoroso Loredana et al. Genes, chromosomes & cancer 2019 Nov
- Tandem Transplant for High-Risk Neuroblastoma-Next Steps in the Era of Precision Medicine
R Bagatell, JAMA, August 27, 2019
- Tandem Transplant for High-Risk Neuroblastoma: Next Steps in the Era of Precision Medicine.
Bagatell Rochelle, et al. JAMA 2019 0 0. (8) 729-731
- Study reveals elevated cancer risk in children with birth defects,
EurekAlert, June 25, 2019
- The Childhood Cancer Data Initiative: Why Data Sharing Is Essential to Progress
D Lowy, NCI Director Blog, June 12, 2019
- Distillation of the clinical algorithm improves prognosis by multi-task deep learning in high-risk Neuroblastoma.
Maggio Valerio et al. PloS one 2018 13(12) e0208924
- Molecularly Targeted Therapy for Neuroblastoma.
Greengard Emily G et al. Children (Basel, Switzerland) 2018 Oct 5(10)
- Clinical Impact of Tumor Mutational Burden in Neuroblastoma.
Hwang William L et al. Journal of the National Cancer Institute 2018 Oct
- Hotspot Mutations Detectable by Next-generation Sequencing in Exhaled Breath Condensates from Patients with Lung Cancer.
Youssef Omar et al. Anticancer research 2018 Oct 38(10) 5627-5634
- NCI-led research team develops predictor for immunotherapy response in melanoma
NCI, August 20, 2018
- Retrospective evaluation of a decision-support algorithm (MIPOGG) for genetic referrals for children with neuroblastic tumors.
Goudie Catherine et al. Pediatric blood & cancer 2018 Aug e27390
- CLINGEN Actionability Report for Retinoblastoma-RB1
ClinGen Actionability Working Group
- Mendelian randomization studies of cancer risk: a literature review.
Pierce Brandon L et al. Current epidemiology reports 2018 Jun 5(2) 184-196
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.