Last Posted: Jan 24, 2023
- Designing an international survey for organisations serving people with Down syndrome.
Kats Daniel J et al. Journal of applied research in intellectual disabilities : JARID 2023
- "I am not a number!" Opinions and preferences of people with intellectual disability about genetic healthcare.
Strnadová Iva et al. European journal of human genetics : EJHG 2023 1
- A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon Anne-Sophie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100018
- Candidate diagnostic biomarkers for neurodevelopmental disorders in children and adolescents: a systematic review.
Cortese Samuele et al. World psychiatry : official journal of the World Psychiatric Association (WPA) 2023 22(1) 129-149
- Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment.
Nóbrega Paulo Ribeiro et al. Frontiers in neurology 2023 131049850
- International Consensus Guideline on Small for Gestational Age (SGA): Etiology and Management from Infancy to Early Adulthood.
Hokken-Koelega Anita C S et al. Endocrine reviews 2023
- Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variant.
Schneeweiss Michelle Robyn et al. BMJ case reports 2023 15(12)
- Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study.
Toktas Izzettin et al. The Turkish journal of pediatrics 2022 64(6) 985-992
- IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders.
Aitken Stuart et al. HGG advances 2022 4(1) 100162
- Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
Tolezano Giovanna Cantini et al. Journal of autism and developmental disorders 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 (9)
- NIH Information (67)
- COVID-19 (25)
- CDC Publications (6)
- Human Genome Epidemiologic Studies (388)
- GWAS Studies (11)
- Human Genomics Translation/Implementation Studies (293)
- Genomic Tests Evidence Synthesis (22)
- Genomic Tests Guidelines (12)
- Tier-Classified Guidelines (5)
- Non-Genomics Precision Health (16)
- Pathogen Advanced Molecular Detection (1)
- State Public Health Genomics Programs (4)
- Reviews/Commentaries (104)
- 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.