Last Posted: Dec 29, 2022
- National Birth Defects Awareness Month: Healthy Communities, Healthy Babies
NBDPN, January 2023
- High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
RB Deloge et al, EJHG, December 6, 2022
- A comprehensive list of human microdeletion and microduplication syndromes.
Wetzel Alyssa S et al. BMC genomic data 2022 23(1) 82
- Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development.
Safizadeh Shabestari Seyed Ali et al. Human genetics 2022
- Analysis results of 579 cases of genomic copy number variation sequencing of pregnant women in prenatal diagnosis.
Huang L-L et al. European review for medical and pharmacological sciences 2022 26(20) 7572-7579
- Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Sakamoto Masamune et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 10
- Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohort.
Nazeha Nuraini et al. American journal of medical genetics. Part A 2022
- Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
Krepischi Ana C V et al. Scientific reports 2022 12(1) 15184
- Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.
Okashah Sarah et al. Genes 2022 13(8)
- CHDbase: A comprehensive knowledgebase for congenital heart disease-related genes and clinical manifestations.
Zhou Wei-Zhen et al. Genomics, proteomics & bioinformatics 2022
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 (26)
- NIH Information (6)
- COVID-19 (6)
- CDC Publications (25)
- Human Genome Epidemiologic Studies (479)
- GWAS Studies (12)
- Human Genomics Translation/Implementation Studies (362)
- Genomic Tests Evidence Synthesis (39)
- Genomic Tests Guidelines (30)
- Tier-Classified Guidelines (12)
- Non-Genomics Precision Health (11)
- Pathogen Advanced Molecular Detection (1)
- State Public Health Genomics Programs (47)
- Reviews/Commentaries (391)
- Tools/Methods (20)
- Ethical/Legal and Social Issues (ELSI) (5)
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.