Publications
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease. J Clin Invest 130, 507-522 (2020).
A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability. FEBS Lett 594, 717-727 (2020).
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. Brain 143, 1114-1126 (2020).
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern. Acta Neuropathol 139, 565-582 (2020).
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat 37, 653-60 (2016).
Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation. Pediatr Int 58, 785-8 (2016).
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. Am J Med Genet A 170, 3165-3171 (2016).
A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. Hum Mol Genet 23, 1602-5 (2014).
Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet 94, 161-75 (2014).
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet 92, 632-6 (2013).