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

Genomics|Update|Non Communicable Diseases

Volume 35  Number 8  August 20-27, 2015

Birth Defects and Child Health

Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: A pediatric center's experience.

Valencia CA et al. Front Pediatr 2015 367

DMD mutations in 576 dystrophinopathy families: A step forward in genotype-phenotype correlations.

Juan-Mateu J et al. PLoS ONE 10(8) e0135189

DS-Connect: A promising tool to improve lives and engage Down syndrome communities worldwide.

Peprah EK et al. Glob Heart 2015 Aug 11.

Paediatric endocrinology: Paradigm shift in genetic testing for neonatal diabetes mellitus-new framework for clinical care.

Holmes D et al. Nat Rev Endocrinol 2015 Aug 18.

Sehgal index: A new index and its comparison with other complete blood count-based indices for screening of beta thalassemia trait in a tertiary care hospital.

Sehgal K et al. Indian J Pathol Microbiol 58(3) 310-5

The prevalence of sickle cell disease and its implication for newborn screening in Germany (Hamburg metropolitan area).

Grosse R et al. Pediatr Blood Cancer 2015 Aug 14.