@article{article08cbe8a5,
title   = {Expanding the Molecular and Clinical Phenotype of SSR4-CDG},
author = {Ng, Bobby G. and Raymond, Kimiyo and Kircher, Martin and Buckingham, Kati J. and Wood, Tim and Shendure, Jay and Nickerson, Deborah A. and Bamshad, Michael J. and Wong, Jonathan T. S. and Monteiro, Fabiola Paoli and Graham, Brett H. and Jackson, Sheryl and Sparkes, Rebecca and Scheuerle, Angela E. and Cathey, Sara and Kok, Fernando and Gibson, James B. and Freeze, Hudson H.},
year = {2015},
doi = {10.1002/humu.22856},
journal   = {Human Mutation}
}