Publications Peer reviewed articles (5) The evolving genetic landscape of congenital disorders of glycosylation Author(s): Matthew P. Wilson, Gert Matthijs Published in: Biochimica et Biophysica Acta (BBA) - General Subjects, 1865/11, 2021, Page(s) 129976, ISSN 0304-4165 Publisher: Elsevier BV DOI: 10.1016/j.bbagen.2021.129976 CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking Author(s): Matthew P Wilson, Zoé Durin, Özlem Unal, Bobby G Ng, Thomas Marrecau, Liesbeth Keldermans, Erika Souche, Daisy Rymen, Mehmet Gündüz, Gülşen Köse, Luisa Sturiale, Domenico Garozzo, Hudson H Freeze, Jaak Jaeken, François Foulquier, Gert Matthijs Published in: Human Molecular Genetics, 2022, ISSN 0964-6906 Publisher: Oxford University Press DOI: 10.1093/hmg/ddac055 SLC37A4‐CDG : Second patient Author(s): Matthew P. Wilson, Dulce Quelhas, Elisa Leão‐Teles, Luisa Sturiale, Daisy Rymen, Liesbeth Keldermans, Valérie Race, Erika Souche, Esmeralda Rodrigues, Teresa Campos, Emile Van Schaftingen, François Foulquier, Domenico Garozzo, Gert Matthijs, Jaak Jaeken Published in: JIMD Reports, 2021, ISSN 2192-8312 Publisher: Wiley DOI: 10.1002/jmd2.12195 Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation Author(s): Eline Blommaert, Natalia A. Cherepanova, Frederik Staels, Matthew P. Wilson, Reid Gilmore, Rik Schrijvers, Jaak Jaeken, François Foulquier & Gert Matthijs Published in: Human Genetics, 2022, ISSN 1432-1203 Publisher: Springer DOI: 10.1007/s00439-021-02400-1 Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings Author(s): Matthew P. Wilson, Alejandro Garanto, Filippo Pinto e Vairo, Bobby G. Ng, Wasantha K. Ranatunga, Marina Ventouratou, Melissa Baerenfaenger, Karin Huijben, Christian Thiel, Angel Ashikov, Liesbeth Keldermans, Erika Souche, Sandrine Vuillaumier-Barrot, Thierry Dupré, Helen Michelakakis, Agata Fiumara, James Pitt, Susan M. White, Sze Chern Lim, Lyndon Gallacher, Heidi Peters, Daisy Rymen, Peter Witt Published in: The American Journal of Human Genetics, 108/11, 2021, Page(s) 2130-2144, ISSN 0002-9297 Publisher: University of Chicago Press DOI: 10.1016/j.ajhg.2021.09.012 Searching for OpenAIRE data... There was an error trying to search data from OpenAIRE No results available
