
Differences in the genetic architecture of common and rare variants in childhood, persistent and late-diagnosed attention-deficit hyperactivity disorder.
Rajagopal Veera M et al. Nature genetics 2022 8
Clinical use of artificial intelligence in endometriosis: a scoping review
B Sivajohan et al, NPJ Digital Medicine, August 4, 2022
Fragile X syndrome: Learning what families need, one person at a time.
CDC, July 2022
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge
L Lanoo et al, EJHG, July 27, 2022


Popa Zoran Laurentiu et al. International journal of environmental research and public health 2022 19(14)
Co-designing Improved Communication of Newborn Bloodspot Screening Results to Parents: Mixed Methods Study.

Chudleigh Jane et al. Journal of participatory medicine 2022 14(1) e33485
Different management approaches and outcome for infants with an inconclusive diagnosis following newborn screening for cystic fibrosis (CRMS/CFSPID) and Pseudomonas aeruginosa isolation.

Dolce Daniela et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2022
DNA Methylation Episignatures in Neurodevelopmental Disorders Associated with Large Structural Copy Number Variants: Clinical Implications.

Rooney Kathleen et al. International journal of molecular sciences 2022 23(14)
Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency.

Shih Sophy T F et al. International journal of neonatal screening 2022 8(3)
Making Decisions About Krabbe Disease Newborn Screening.

Kurtzberg Joanne et al. Pediatrics 2022 150(2)
MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders.

Wong Anthony et al. Genes 2022 13(8)
Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency.

Shih Sophy T F et al. International journal of neonatal screening 2022 8(3)
Newborn Screening by Genomic Sequencing: Opportunities and Challenges.

Bick David et al. International journal of neonatal screening 2022 8(3)
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan Koon-Wing et al. Frontiers in immunology 2022 13883446
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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
- CDC Information (242)
- NIH Information (346)
- COVID-19 (552)
- CDC Publications (144)
- Human Genome Epidemiologic Studies (13564)
- GWAS Studies (318)
- Human Genomics Translation/Implementation Studies (5313)
- Genomic Tests Evidence Synthesis (520)
- Genomic Tests Guidelines (317)
- Tier-Classified Guidelines (59)
- Non-Genomics Precision Health (527)
- Pathogen Advanced Molecular Detection (88)
- State Public Health Genomics Programs (125)
- Reviews/Commentaries (3165)
- Tools/Methods (127)
- Ethical/Legal and Social Issues (ELSI) (152)
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 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.
- Page last reviewed:Jul 25, 2022
- Page last updated:Aug 10, 2022
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