Last Posted: Oct 25, 2022
- Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.
Pierron Lucie et al. Journal of medical genetics 2022
- A Remote Digital Monitoring Platform to Assess Cognitive and Motor Symptoms in Huntington Disease: Cross-sectional Validation Study.
Lipsmeier Florian et al. Journal of medical Internet research 2022 24(6) e32997
- In vitro fertilization with preimplantation genetic testing for monogenetic diseases versus unassisted conception with prenatal diagnosis for Huntington disease: a cost-effectiveness analysis.
Christensen Alicia A et al. Fertility and sterility 2022
- Genetic modifiers of Huntington disease differentially influence motor and cognitive domains
JM Lee et al, AJHG, March 23, 2022
- Return of research results (RoRR) to the healthy CHRIS cohort: designing a policy with the participants.
Staunton Ciara et al. Journal of community genetics 2021
- Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain.
Vicente Esther et al. Orphanet journal of rare diseases 2021 Feb 16(1) 77
- Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease.
Amador Maria Del Mar et al. Neurology. Genetics 2021 Feb 7(1) e538
- The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.
Eratne Dhamidhu et al. Journal of the neurological sciences 2020 Dec 420117260
- Informing about genetic risk in families with Huntington disease: comparison of attitudes across two decades.
Pierron Lucie et al. European journal of human genetics : EJHG 2020 Dec
- Predictive testing for neurodegenerative diseases in the age of next-generation sequencing.
Goldman Jill et al. Journal of genetic counseling 2020 Oct
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.