ACTUALIZACIÓN MÉDICO-CONTINUADA EN DISCAPACIDADES ► Genomics|Features|Disabilities [idioma inglés únicamente]

Genomics|Features|Disabilities

Developmental Disabilities

Developmental Disabilities: Public Health Impact and Recent Genomic Insights - July 15, 2015

Genetic testing for developmental disabilities, intellectual disability, and autism spectrum disorder
Rockville (MD):Agency for Healthcare Research and Quality (US) 2015 Jun

CDC information: Developmental disabilities are a group of conditions due to an impairment in physical, learning, language, or behavior areas. About one in six children in the U.S. have one or more developmental disabilities or other developmental delays

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

Genetic diagnosis of developmental disorders: a scalable analysis of genome-wide research data
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

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.

Molecular findings among patients referred for clinical whole-exome sequencing.
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.