Developmental Disabilities
What's New
Last Posted: May 17, 2022
- Detecting autism from picture book narratives using deep neural utterance embeddings.
Wawer Aleksander et al. International journal of language & communication disorders 2022 - The diagnostic journey of genetically defined neurodevelopmental disorders.
Simon Juliana et al. Journal of neurodevelopmental disorders 2022 14(1) 27 - Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
K Hamanaka et al, Genome Medicine, April 26, 2022 - The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence.
Hayeems Robin Z et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 24(3) 694-702 - Health economic evaluation of noninvasive prenatal testing and serum screening for down syndrome.
Xiao Gefei et al. PloS one 2022 17(4) e0266718 - Designing rare disease care pathways in the Republic of Ireland: a co-operative model.
Ward A J et al. Orphanet journal of rare diseases 2022 17(1) 162 - Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.
Leite Ana Julia da Cunha et al. PloS one 2022 17(4) e0266493 - Fragile X Mental Retardation Protein and Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome: A Pilot Study.
Brašic James Robert et al. Brain sciences 2022 12(3) - Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
AJB Fernandez et al, EJHG, March 23, 2022 - Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.
Verberne Eline A et al. American journal of medical genetics. Part A 2022
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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 (8)
- NIH Information (67)
- COVID-19 (23)
- CDC Publications (5)
- Human Genome Epidemiologic Studies (374)
- GWAS Studies (11)
- Human Genomics Translation/Implementation Studies (262)
- Genomic Tests Evidence Synthesis (20)
- Genomic Tests Guidelines (10)
- Tier-Classified Guidelines (5)
- Non-Genomics Precision Health (14)
- Pathogen Advanced Molecular Detection (1)
- State Public Health Genomics Programs (4)
- Reviews/Commentaries (103)
- Tools/Methods (4)
- Ethical/Legal and Social Issues (ELSI) (6)
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:Oct 1, 2021
- Page last updated:May 24, 2022
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