Last Posted: Nov 08, 2018
- Reanalyzing gene tests prompts new diagnoses in kids-Epilepsy study calls for 2-year checks to keep pace with scientific advances
UT SouthWestern, November 5, 2018
- Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients.
SoRelle Jeffrey A et al. JAMA pediatrics 2018 Nov e182302
- Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.
Niestroj Lisa-Marie et al. Epilepsia 2018 Oct
- A comparison of family financial and employment impacts of fragile X syndrome, autism spectrum disorders, and intellectual disability.
Ouyang Lijing et al. Research in developmental disabilities 2014 Jul 35(7) 1518-27
- Inborn Errors of Metabolism with Movement Disorders: Defects in Metal Transport and Neurotransmitter Metabolism.
Kantamneni Trishna et al. Pediatric clinics of North America 2018 65(2) 301-315
- The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Helbig Ingo et al. Human mutation 2018 Nov (11) 1476-1484
- Pitfalls of clinical exome and gene panel testing: alternative transcripts.
Bodian Dale L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct
- Exploring neurologists' perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines.
Hurlimann Thierry et al. BMC medical ethics 2018 Sep 19(1) 81
- 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
- New supplemental awards boost NIH funding for research on Down syndrome
NIH, October 1, 2018
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- AMD Weekly Clips (7)
- GWAS Catalog (9)
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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.
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- Page last updated:Nov 13, 2018
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