Marije Meuwissen

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 406 citations · Full text

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Marije Meuwissen, Rachel Schot, Sofija Buta et al. · The Journal of Experimental Medicine · 2016 · 278 citations · Full text

Disease Etiology, Genetics, Pseudo-torch Syndrome +17

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko et al. · Brain · 2021 · 138 citations · Full text

COL4A2 mutation associated with familial porencephaly and small-vessel disease

Elly Verbeek, Marije Meuwissen, Frans W. Verheijen et al. · European Journal of Human Genetics · 2012 · 120 citations · Full text

Col4a2 Mutation, Developmental Anomaly, Mendelian Disorder +5

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema et al. · Genome Medicine · 2021 · 108 citations · Full text