Last Posted: Jan 30, 2020
- A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC).
Zöllner Johann Philipp et al. Orphanet journal of rare diseases 2020 Jan 15(1) 23
- Implications of genetic diagnostics in epilepsy surgery candidates: A single-center cohort study.
Sanders Maurits W C B et al. Epilepsia open 2019 Dec 4(4) 609-617
- Clinical and morphologic review of 60 hereditary renal tumors from 30 hereditary renal cell carcinoma syndrome patients: lessons from a contemporary single institution series.
Kennedy John M et al. Medical oncology (Northwood, London, England) 2019 Jul 36(9) 74
- Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period.
Eyal Ori et al. Molecular genetics & genomic medicine 2019 Jan e00573
- Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism.
Adams Dawn et al. Orphanet journal of rare diseases 2018 Oct 13(1) 185
- Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice.
Peron Angela et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Sep
- The UK guidelines for management and surveillance of Tuberous Sclerosis Complex.
Amin S et al. QJM : monthly journal of the Association of Physicians 2018 Sep
- The classification of pediatric and young adult renal cell carcinomas registered on the Children's Oncology Group (COG) protocol AREN03B2 after focused genetic testing.
Cajaiba Mariana M et al. Cancer 2018 Jun
- Understanding the health economic burden of patients with tuberous sclerosis complex (TSC) with epilepsy: a retrospective cohort study in the UK Clinical Practice Research Datalink (CPRD).
Shepherd Charles et al. BMJ open 2017 Oct 7(10) e015236
- Secondary findings from next-generation sequencing: what does actionable in childhood really mean?
Richer Julie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun
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
- NIH Information (5)
- COVID-19 (1)
- Human Genome Epidemiologic Studies (46)
- GWAS Studies (1)
- Human Genomics Translation/Implementation Studies (16)
- Genomic Tests Evidence Synthesis (3)
- Genomic Tests Guidelines (2)
- State Public Health Genomics Programs (1)
- Reviews/Commentaries (10)
- Ethical/Legal and Social Issues (ELSI) (1)
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.