Karin Huijben

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel et al. · New England Journal of Medicine · 2014 · 279 citations · Full text

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Sharita Timal, Alexander Hoischen, Ludwig Lehle et al. · Human Molecular Genetics · 2012 · 170 citations

Mendelian Disorder, Genetic Disorder, Whole-exome Sequencing +14

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen et al. · Nature Genetics · 2016 · 163 citations · Full text

Developmental Biology, Biochemistry, Brain Development +7

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

Dirk J. Lefeber, Arjan P.M. de Brouwer, Éva Morava et al. · PLoS Genetics · 2011 · 153 citations · Full text

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Eric J. R. Jansen, Sharita Timal, Margret Ryan et al. · Nature Communications · 2016 · 146 citations · Full text