Last Posted: Oct 14, 2021
- Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.
Gardner Eugene J et al. American journal of human genetics 2021
- Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema Huma et al. NPJ genomic medicine 2021 5(1) 44
- A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
Pode-Shakked Ben et al. Scientific reports 2021 11(1) 19099
- Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Rücklová Kristina et al. Nutrients 2021 13(9)
- Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.
Amlie-Wolf Louise et al. American journal of medical genetics. Part A 2021
- Tuberous Sclerosis: Current Update.
Wang Mindy X et al. Radiographics : a review publication of the Radiological Society of North America, Inc 2021 210103
- An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia.
Morris E et al. Human genetics 2021
- Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Spagnoli Carlotta et al. Genes 2021 12(8)
- The Utility of Pharmacogenetic-Guided Psychotropic Medication Selection for Pediatric Patients: A Retrospective Study.
Ariefdjohan Merlin et al. Pediatric reports 2021 13(3) 421-433
- Talking to Patients with Intellectual and Developmental Disabilities about COVID-19 Vaccination- Tips for Healthcare Providers & Clinical Staff
CDC, August 2021
Reproductive and Child Health PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other materials that address the translation of genomic and other precision health discoveries into improved health care and prevention related to reproductive and child Health...more
- CDC Information (8)
- NIH Information (67)
- COVID-19 (17)
- CDC Publications (4)
- Human Genome Epidemiologic Studies (368)
- GWAS Studies (10)
- Human Genomics Translation/Implementation Studies (232)
- Genomic Tests Evidence Synthesis (19)
- Genomic Tests Guidelines (9)
- Tier-Classified Guidelines (5)
- Non-Genomics Precision Health (12)
- State Public Health Genomics Programs (4)
- Reviews/Commentaries (99)
- Tools/Methods (4)
- Ethical/Legal and Social Issues (ELSI) (6)
Common RCH Related Topics
- Attention Deficit/Hyperactivity Disorder
- Birth Defects
- Carrier Testing
- Cerebral Palsy
- Congenital heart defects
- Pregnancy loss
- Developmental Disabilities
- Gestational Diabetes
- Hearing loss
- Neural tube defects
- Infant Mortality
- Learning disability
- Newborn Screening
- Prenatal Testing
- Sudden Infant Death Syndrome
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.