Last Posted: Jul 13, 2021
- Uncommon Side Effects of common Drugs in Patients with Familial Dysautonomia.
Perl L et al. Pharmacoepidemiology and drug safety 2021
- Frequency and burden of gastrointestinal symptoms in familial dysautonomia.
Ramprasad Chethan et al. Clinical autonomic research : official journal of the Clinical Autonomic Research Society 2020 Oct
- Impact of a national genetic carrier-screening program for reproductive purposes.
Singer Amihood et al. Acta obstetricia et gynecologica Scandinavica 2020 Jun 99(6) 802-808
- Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.
Kazachkov Mikhail et al. Respiratory medicine 2018 14137-46
- When a Rare Mutation Causes a Rare Disease: Jacob�s Story
R Lewis, PLOS Blogs, June 20, 2019
- Local Coverage Determination (LCD): Biomarkers Overview (L35062)
The U.S. Centers for Medicare & Medicaid Services
- Female-Specific Association Between Variants on Chromosome 9 and Self-Reported Diagnosis of Irritable Bowel Syndrome.
Bonfiglio Ferdinando, et al. Gastroenterology 2018 4
- Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population.
- Familial dysautonomia
From NCATS Genetic and Rare Diseases Information Center
- Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
Fares Fuad, et al. Prenatal diagnosis 2008 3 (3) 236-41
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.