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DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

Melanie A. Jones, Bobby Ng, Shruti Bhide, Ephrem Chin, Devin Rhodenizer, Ping He, Marie‐Estelle Losfeld, Miao He, Kimiyo Raymond, Gerard T. Berry,

The American Journal of Human Genetics · 2012 · 76 citations · 17 references

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Congenital disorders of glycosylation

Jaak Jaeken · Annals of the New York Academy of Sciences · 2010 · 220 citations

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CDG nomenclature: Time for a change!

Jaak Jaeken, Thierry Hennet, Gert Matthijs et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2009 · 168 citations

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Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

Gert Matthijs, Els Schollen, Cecilia Bjursell et al. · Human Mutation · 2000 · 163 citations

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The yeast WBP1 is essential for oligosaccharyl transferase activity in vivo and in vitro.

Stephan te Heesen, Bernd Janetzky, Ludwig Lehle et al. · The EMBO Journal · 1992 · 155 citations · Full text

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Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

Florence Molinari, François Foulquier, Patrick Tarpey et al. · The American Journal of Human Genetics · 2008 · 152 citations · Full text

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