Arjan de Brouwer
Radboud University Nijmegen(NL)Radboud University Medical Center(NL)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Glycosylation and Glycoproteins Research, RNA modifications and cancer, CRISPR and Genetic Engineering, Metabolism and Genetic Disorders
Most-Cited Works
- → NANS-mediated synthesis of sialic acid is required for brain and skeletal development(2016)164 cited
- → Phenotype and genotype in 101 males with X-linked creatine transporter deficiency(2013)162 cited
- → Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia(2010)147 cited
- → Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome(2010)102 cited
- → Mice without phosphatidylcholine transfer protein have no defects in the secretion of phosphatidylcholine into bile or into lung airspaces(1999)69 cited
- → Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function(2018)54 cited
- → Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability(2011)30 cited
- → B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement(2011)29 cited
- → Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation(2006)23 cited
- → Certainty-based marking in a formative assessment improves student course appreciation but not summative examination scores(2019)16 cited