Last Posted: Nov 12, 2020
- Next-generation sequencing for the diagnosis of patients with congenital multiple anomalies and / or intellectual disabilities.
Suga Kenichi et al. The journal of medical investigation : JMI 2020 67(3.4) 246-249 - An efficient genetic test flow for multiple congenital anomaly and intellectual disability.
Yokoi Takayuki et al. Pediatrics international : official journal of the Japan Pediatric Society 2020 Jan - What do parents expect from a genetic diagnosis of their child with intellectual disability?
Dikow Nicola et al. Journal of applied research in intellectual disabilities : JARID 2019 Apr - Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism.
Adams Dawn et al. Orphanet journal of rare diseases 2018 Oct 13(1) 185 - Family Genetics Key to Severity of Autism and Other Neurodevelopmental Disorders
GEN News Highlights, September 2018 - [FROM GENETICS OF FRAGILE X SYNDROME TO DEVELOPMENT OF TARGETED AND PERSONALIZED DRUG THERAPY].
Gabis Lidia V et al. Harefuah 2018 Aug 157(8) 529-533 - 'We would have missed out so much had we terminated': What fathers of a child with Down syndrome think about current non-invasive prenatal testing for Down syndrome.
How Bethea et al. Journal of intellectual disabilities : JOID 2018 Jan 1744629518787606 - Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.
Xiao Bing et al. American journal of medical genetics. Part A 2017 Nov - Genetic testing in intellectual disability psychiatry: Opinions and practices of UK child and intellectual disability psychiatrists.
Wolfe Kate et al. Journal of applied research in intellectual disabilities : JARID 2017 Aug - Do the data really support ordering fragile X testing as a first-tier test without clinical features?
Weinstein Veronique et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May
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Disclaimer: Articles listed in the Public Health Genomics and Precision 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.
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