1.
Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene
by Schwartz, Charles E
American journal of human genetics, 2005, Vol.77 (1), p.41-53

2.
Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13...
by Cardoso, Carlos
American journal of human genetics, 2003-04, Vol.72 (4), p.918-930

3.
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
by Carss, Keren J
American journal of human genetics, 2013-07-11, Vol.93 (1), p.29-41
