Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence.
Rebekah L Waikel et al. JAMA Netw Open 2024 3 (3) e242609 (Posted Mar 18, 2024 3PM)
Researchers one step closer to preventing preeclampsia
Medical XPress, APA, March 14, 2024 (Posted Mar 18, 2024 3PM)
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis.
Enrica Marchionni et al. Eur J Hum Genet 2024 3 (Posted Mar 18, 2024 9AM)
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.
Lea Urpa et al. Eur J Hum Genet 2024 3 (Posted Mar 12, 2024 0PM)
Hannah McInnes-Dean et al. Prenat Diagn 2024
An extra X chromosome among adult women in the Million Veteran Program: A more benign perspective of trisomy X.
Shanlee M Davis et al. Am J Med Genet C Semin Med Genet 2024 e32083
Clinical value of screening prenatal ultrasound combined with chromosomal microarrays in prenatal diagnosis of chromosomal abnormalities.
Hongru Jiang et al. J Matern Fetal Neonatal Med 2024 37(1) 2324348
De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam.
Hoa Thi Phuong Bui et al. PLoS One 2024 19(3) e0290936
Dental caries in the permanent dentition and health-related quality of life among children and adolescents with sickle cell disease.
Vera Lúcia Duarte da Costa Mendes et al. Cien Saude Colet 2024 29(3) e06752023
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Daniz Kooshavar et al. Brain Commun 2024 6(2) fcae056
Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non-Finnish European, Finnish, and Ashkenazi Jewish populations.
Miska Kandolin et al. Am J Med Genet A 2024 e63588
Evaluation of Nanopore Sequencing on Polar Bodies for Routine Pre-Implantation Genetic Testing for Aneuploidy.
Anna Oberle et al. Clin Chem 2024
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Teresa H Y Wu et al. Mol Genet Metab 2024 142(1) 108349
Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey.
Alexis Ceecee Britten-Jones et al. Sci Rep 2024 14(1) 5403
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About RCH PHGKB
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
Content Summary
Common RCH Related Topics
- Attention Deficit/Hyperactivity Disorder
- Autism
- Birth Defects
- Carrier Testing
- Cerebral Palsy
- Congenital heart defects
- Pregnancy loss
- Developmental Disabilities
- Gestational Diabetes
- Hearing loss
- Neural tube defects
- Infant Mortality
- Infertility
- Learning disability
- Newborn Screening
- Preeclampsia
- Prematurity
- Prenatal Testing
- Stillbirth
- Sudden Infant Death Syndrome
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:Mar 18, 2024
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