GenetiSure Dx Postnatal Assay Publications and Guidelines

Publications References:

1. Queißer-Luft , A., and Spranger, J. Congenital Malformations. Dtsch Arztebl, 103(38), 2464-2471 (2006).

2. Jones, K.L., and Adam, M.P. Evaluation and Diagnosis of the Dysmorphic Infant. Clin Perinatol, 42(2), 243 (2015)

3. Mandell, D.S., et al. Factors associated with age of diagnosis among children with autism spectrum disorders. Pediatrics, 116(6), 1480-1486 (2005).

4. Elsabbagh, M., et al. Global prevalence of autism and other pervasive developmental disorders. Autism Res, 5(3), 160-179 (2012).

5. Boyle, C.A., et al. Trends in the prevalence of developmental disabilities in US children. Pediatrics, 127(6), 1034-1042 (2011).

6. Hunter, A.G.W. Medical genetics: 2. The diagnostic approach to the child with dysmorphic signs. CMAJ, 167(4), 367-372 (2002).

7. Kaufman, L., et al. The genetic basis of non-syndromic intellectual disability: A review. J Neurodevelop Disord, 2, 182-209 (2010).

8. Satya-Murti, S., et al. Chromosomal Microarray Analysis for Intellectual Disabilities. American Academy of Neurology (2013). 

9. Michelson, D.J., et al. Evidence report: Genetic and metabolic testing on children with global developmental delay, Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology, 77(17), 1629–1635 (2011).

10. South, S.T., et al. ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: Revision 2013. Genet Med Genet Med, 15(11), 901-909 (2013).

11. Vermeesch, J.R., et al. Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet, 15, 1105-1114 (2007).

12. Miller, D.T., et al. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet, 86(5), 749-764 (2010).

13. Kiang, J.U., and Koo, S.H. Evolving applications of microarray technology in postnatal diagnosis (Review). Int J Mol Med, 30, 223-228 (2012).

14. Lyle, R., et al. Genotype – Phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum, 17(4), 454-466 (2009).

Guidelines:

• Read the AAN guidelines
• Read the ICCG/ISCA statement