Genomics|Update|Non Communicable Diseases ► Birth Defects and Child Health

Genomics|Update|Non Communicable Diseases

Volume 34  Number 16  April 23-30, 2015

Birth Defects and Child Health

A modified panel of sentinel congenital anomalies for potential use in mutation epidemiology based on birth defects registry data. 
Langlois PH et al. Am. J. Med. Genet. A 2014 Sep 164A(9) 2187-99

Clinical diagnostic next-generation sequencing: The case of CFTR carrier screening. 
Loukas YL et al. Scand. J. Clin. Lab. Invest. 2015 Apr 15. 1-8

Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy. 
Manitto MP et al. Eur. J. Hum. Genet. 2015 Apr 15.

Effects of high-dose oral insulin on immune responses in children at high risk for type 1 diabetes: The Pre-POINT Randomized Clinical Trial. 
Bonifacio E et al. JAMA 2015 Apr 21. 313(15) 1541-1549

Gene hunting in autism spectrum disorder: on the path to precision medicine 
Geschwind D, et al. Lancet Neurology 2015 April 16

Genetic findings in autism could lead to personalized therapy, Genome Web, Apr 17 [by free subscription only]

Knowledge and awareness of personal sickle cell genotype among parents of children with sickle cell disease in southeast Nigeria. 
Ezenwosu OU et al. J Community Genet 2015 Apr 14.

Molecular diagnosis of fragile x syndrome in subjects with intellectual disability of unknown origin: implications of its prevalence in regional pakistan. 
Kanwal M et al. PLoS ONE 2015 10(4) e0122213

Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome. 
Hacein-Bey AS et al. JAMA 2015 Apr 21. 313(15) 1550-1563

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. 
Biegstraaten M et al. Orphanet J Rare Dis 2015 10(1) 36

SCA2 predictive testing in Cuba: challenging concepts and protocol evolution. 
Cruz-Mariño T et al. J Community Genet 2015 Apr 19.

Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations. 
O'Byrne JJ et al. Ir J Med Sci 2015 Apr 21.

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. 
Miller MJ et al. J. Inherit. Metab. Dis. 2015 Apr 15.