Birth Defects & Child Health

Genomics|Update|Current

Birth Defects & Child Health

European cystic fibrosis society standards of care: Best practice guidelines 
Smyth AR, et al. J Cyst Fibros 2014 May;13S1:S23-S42

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
Mohammed Uddin et al. Nature Genetics, May 25, 2014

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 
Mina ED, et al. Eur J Hum Genet 2014 May

Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts.
Bureau A, et al. Genetics. 2014 May 2.

Sick Kids scientists figure out formula for predicting autism, Lee Marshall, The Globe and Mail, May 25