Birth Defects & Child Health

Genomics|Update|Current

Birth Defects & Child Health

A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders 
Goodwin J, et al. J Intellect Disabil Res 2014 Jul

Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation 
Jaeken J, et al. Eur J Hum Genet 2014 Jul

Duchenne muscular dystrophy in a developing country: challenges in management and genetic counseling 
Lopez-Hernandez LB, et al. Genet Couns 2014;25(2):129-41

Genetic testing and neuroimaging for youth at risk for mental illness: Trading off benefit and risk 
Lee G, et al. Curr Top Behav Neurosci 2014 Jul

Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression.
Giglio S, et al. J Am Soc Nephrol. 2014 Jul 24. pii: ASN.2013111155.

Genetic test helps predict which children with kidney disease will respond to standard therapy, Nephrology, Jul 28

Impact of behavioral genetic evidence on the perceptions and dispositions of child abuse victims 
Raad R & Appelbaum PS Public Health Genomics 2014 Jul

IthaGenes: An interactive database for haemoglobin variations and epidemiology 
Kountouris P, et al. PLoS One 2014;9(7):e103020

Transplantation outcomes for severe combined immunodeficiency, 2000–2009
Sung-Yun Pai, et al. N Engl J Med. 2014 Jul 31;371(5):434-446.