Developmental disabilities || Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)

Last Posted: Jan-27-2017 8AM

 Developmental Disabilities expanded expanded

Child gene study identifies new developmental disorders
F Walsh, BBC, January 25, 2017

Prevalence and architecture of de novo mutations in developmental disorders
Deciphering Developmental Disorders Study, Nature, January 25, 2017

Genomic diagnosis for children with intellectual disability and/or developmental delay
KM Bowling et al, BioXRV, November 2016

More information on this topic

Last Posted: Jan 25, 2017

---

• Child gene study identifies new developmental disorders
  F Walsh, BBC, January 25, 2017
• Prevalence and architecture of de novo mutations in developmental disorders
  Deciphering Developmental Disorders Study, Nature, January 25, 2017
• Genomic diagnosis for children with intellectual disability and/or developmental delay
  KM Bowling et al, BioXRV, November 2016
• Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions
  CH Hensel et al, BioXRIV, October 26, 2016
• "This lifetime commitment": Public conceptions of disability and noninvasive prenatal genetic screening.
  Steinbach Rosemary J et al. American journal of medical genetics. Part A 2016 Feb 170A(2) 363-74
• Utilization of genetic testing among children with developmental disabilities in the United States.
  Kiely Bridget et al. The application of clinical genetics 2016 993-100
• Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients - A study from a tertiary care genetic centre in India.
  Sharma Pankaj et al. Gene 2016 Jun
• Exome Sequencing and the Management of Neurometabolic Disorders
  Maja Tarailo-Graovac et al, NEJM May 25, 2016
• Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray.
  Hayeems Robin Z et al. European journal of human genetics : EJHG 2015 Sep 23(9) 1135-41
• Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation
  JF McRae et al, Biorxiv, April 2016
• Integrative Review of Genetic Factors Influencing Neurodevelopmental Outcomes in Preterm Infants.
  Blair Lisa M et al. Biological research for nursing 2016 Mar (2) 127-37
• A diagnostic approach for cerebral palsy in the genomic era.
  Lee Ryan W et al. Neuromolecular medicine 2014 Dec (4) 821-44
• Causes of developmental disabilities include genetics 
• 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
• Genetic studies in intellectual disability and related disorders.
  Vissers Lisenka E L M et al. Nature reviews. Genetics 2015 Oct
• ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.
  Wang Jinlian et al. Genome Med 2015 7(1) 77

more