Autism | [Updates on Specific Diseases]

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Last Posted: Jun 30, 2017

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• From 0 to 60 in 10 years - After a decade of fast-paced discovery, researchers are racing toward bigger datasets, more genes and a deeper understanding of the biology of autism.  
  S Makin, The Spectrum, June 27, 2017
• The interplay of common, rare variation in autism  
  M Daly, Spectrum, June 27, 2017
• Genes, Ozone and Autism  
  Science Mag, June 23, 2017
• 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
• Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.  
  Barry Jessica C et al. Journal of clinical immunology 2017 May
• Parents' Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder-Data from a Norwegian Sample.  
  Johannessen Jarle et al. International journal of molecular sciences 2017 May 18(5)
• Public-Private Partnerships in Cloud-Computing Services in the Context of Genomic Research.  
  Granados Moreno Palmira et al. Frontiers in medicine 2017 43
• The joint effect of air pollution exposure and copy number variation on risk for autism.  
  Kim Dokyoon et al. Autism research : official journal of the International Society for Autism Research 2017 Apr
• Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders  
  DJ Weiner et al, Nature, May 15, 2017
• A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.  
  Tsiplova Kate et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May
• Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.  
  Fry Andrew E et al. BMC medical genetics 2016 Apr 17(1) 34
• Pharmacogenomics and Efficacy of Risperidone Long-Term Treatment in Thai Autistic Children and Adolescents.  
  Nuntamool Nopphadol et al. Basic & clinical pharmacology & toxicology 2017 May
• Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications.  
  Oikonomakis V et al. Clinical genetics 2016 Jun 89(6) 708-18
• A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder  
  K Tsiplova et al, Genetics in Medicine, May 4, 2017
• Missed Opportunities: Unidentified genetic risk factors in prenatal care.  
  McClatchey Trissa et al. Prenatal diagnosis 2017 Apr
• Autism: Why Act Early? 

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