David Coman

Congenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotype

D. Appleton, J. Jaeken, J. Mcgill, 2007, Journal of Clinical Neuroscience.

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice

I. Scheffer, K. Choy, N. Pachter, 2008, Journal of Medical Genetics.