Last Posted: Aug 16, 2019
- Team links gene to children with physical and intellectual disabilities
S Yozwiak, Medical Xpress, August 15, 2019
- Medical Diagnosis of Cerebral Palsy Rehabilitation Using Eye Images in Machine Learning Techniques.
Illavarason P et al. Journal of medical systems 2019 Jul 43(8) 278
- Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
S Srivastava et al, Genetics in Medicine, June 10, 2019
- Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS .
van Kuilenburg André B P et al. The New England journal of medicine 2019 380(15) 1433-1441
- Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants
F Lecoquierre et al, Genetics in Medicine, April 30, 2019
- Why Act Early if Youre Concerned about Development?
CDC, April 2019
- The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports.
Engwerda Aafke et al. European journal of human genetics : EJHG 2018 26(10) 1478-1489
- Investigating genes, environments, and their interactions in the service of informing individualized diagnosis and treatment in developmental disabilities.
Esposito Gianluca et al. Research in developmental disabilities 2018 821-2
- Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea.
Jang Woori et al. Annals of laboratory medicine 2019 May 39(3) 299-310
- Diagnostic Yield of Intellectual Disability Gene Panels.
Pekeles Heather et al. Pediatric neurology 2018 Nov
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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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