Buysse, K., Riemersma, M., Powell, G., van Reeuwijk, J., Chitayat, D., Roscioli, T., Kamsteeg, E.J., van den Elzen, C., van Beusekomm, E., Blaser, S., Babul-Hirji, R., Halliday, W., Wright, G.J., Stemple, D.L., Lin, Y.Y., Lefeber, D.J., and van Bokhoven, H. (2013) Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Human molecular genetics. 22(9):1746-1754
|
Manzini, M.C., Tambunan, D.E., Hill, R.S., Yu, T.W., Maynard, T.M., Heinzen, E.L., Shianna, K.V., Stevens, C.R., Partlow, J.N., Barry, B.J., Rodriguez, J., Gupta, V.A., Al-Qudah, A.K., Eyaid, W.M., Friedman, J.M., Salih, M.A., Clark, R., Moroni, I., Mora, M., Beggs, A.H., Gabriel, S.B., and Walsh, C.A. (2012) Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome. American journal of human genetics. 91(3):541-547
|
Praissman, J.L., Willer, T., Sheikh, M.O., Toi, A., Chitayat, D., Lin, Y.Y., Lee, H., Stalnaker, S.H., Wang, S., Prabhakar, P.K., Nelson, S.F., Stemple, D.L., Moore, S.A., Moremen, K.W., Campbell, K.P., Wells, L. (2016) The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition. eLIFE. 5
|
Roscioli, T., Kamsteeg, E.J., Buysse, K., Maystadt, I., van Reeuwijk, J., van den Elzen, C., van Beusekom, E., Riemersma, M., Pfundt, R., Vissers, L.E., Schraders, M., Altunoglu, U., Buckley, M.F., Brunner, H.G., Grisart, B., Zhou, H., Veltman, J.A., Gilissen, C., Mancini, G.M., Delrée, P., Willemsen, M.A., Ramadža, D.P., Chitayat, D., Bennett, C., Sheridan, E., Peeters, E.A., Tan-Sindhunata, G.M., de Die-Smulders, C.E., Devriendt, K., Kayserili, H., El-Hashash, O.A., Stemple, D.L., Lefeber, D.J., Lin, Y.Y., and van Bokhoven, H. (2012) Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. Nature Genetics. 44(5):581-585
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