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Last Posted: Mar 03, 2023
- SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus.
Bisulli Francesca, et al. Epileptic disorders : international epilepsy journal with videotape 2019 0 (2) 185-191 - Factors predicting uncontrolled seizures in epilepsy with auditory features.
Zhang Lin, et al. Seizure 2019 0 55-61 - Epilepsy with auditory features: Contribution of known genes in 112 patients.
Bisulli F, et al. Seizure 2021 0 115-118 - Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial.
Rini Christine et al. Patient education and counseling 2021 - Consortium-based genome-wide meta-analysis for childhood dental caries traits.
Haworth Simon, et al. Human molecular genetics 2018 6 - Genetic contribution to waist-to-hip ratio in Mexican children and adolescents based on 12 loci validated in European adults.
Turcotte Michelle, et al. International journal of obesity (2005) 2018 3 - Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.
Southam Lorraine, et al. Nature communications 2017 5 15606 - EAF
From NCATS Genetic and Rare Diseases Information Center
About Rare Diseases PHGKB
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
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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.
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 18, 2024
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