Developmental Disabilities: Public Health Impact and Recent Genomic Insights
CDC information: Most developmental disabilities are thought to be caused by a complex mix of genetic and environmental factors
Large-scale discovery of novel genetic causes of developmental disorders. The Deciphering Developmental Disorders Study.
Nature, December 24, 2014
Nature, December 24, 2014
Genetic diagnosis of developmental disorders: a scalable analysis of genome-wide research data
Caroline F Wright, et al., Lancet, 16 December 2014
Caroline F Wright, et al., Lancet, 16 December 2014
Genomic sequencing study boosts rare disease diagnosis, by Dr Philippa Brice, PHG Foundation, Dec 18
Genetic testing for developmental disabilities, intellectual disability and autism spectrum disorders,AHRQ, Technical Report, December 2014
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Sarah E. Soden et al. Sci Trans Med, December 3, 2014
Sarah E. Soden et al. Sci Trans Med, December 3, 2014
New study validates usefulness of genomic medicine in children with neurologic disorders.Genomic tests are uncovering elusive diagnoses, saving time and money, and changing treatment for infants and children. Eureka Alert, Dec 3
Sequencing kids' exomes: More good news, by Ricki Lewis, PLOS Blogs, Dec 11
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Lee H, et al. JAMA. 2014 Nov 12;312(18):1880-7.
Lee H, et al. JAMA. 2014 Nov 12;312(18):1880-7.
Molecular findings among patients referred for clinical whole-exome sequencing.
Yang Y, et al. JAMA. 2014 Nov 12;312(18):1870-9.
Yang Y, et al. JAMA. 2014 Nov 12;312(18):1870-9.
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Coe BP, et al. Nat Genet. 2014 Oct;46(10):1063-71.
Coe BP, et al. Nat Genet. 2014 Oct;46(10):1063-71.
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