PubRank

Frans W Verheijen

Author PubWeight™ 20.46‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. Ann Neurol 2009 1.87
2 Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am J Hum Genet 2009 1.34
3 Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. Neurogenetics 2012 1.21
4 Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J Inherit Metab Dis 2010 1.19
5 Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. Am J Hum Genet 2011 1.12
6 Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS. J Inherit Metab Dis 2011 1.12
7 RTTN mutations link primary cilia function to organization of the human cerebral cortex. Am J Hum Genet 2012 1.01
8 The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives. Mol Genet Metab 2011 1.01
9 COL4A2 mutation associated with familial porencephaly and small-vessel disease. Eur J Hum Genet 2012 0.98
10 Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated. Neurobiol Dis 2005 0.90
11 Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15). PLoS One 2011 0.88
12 Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum Mutat 2013 0.87
13 Free sialic acid storage disease without sialuria. Ann Neurol 2009 0.87
14 Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland. Pediatr Int 2003 0.80
15 Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification. Arch Neurol 2008 0.80
16 Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome. Hum Mol Genet 2010 0.79
17 Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots. Mol Genet Metab 2011 0.79
18 Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features. AJNR Am J Neuroradiol 2003 0.78
19 Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I. J Inherit Metab Dis 2010 0.78
20 Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy. J Allergy Clin Immunol 2012 0.78
21 Severe presentation of WDR62 mutation: is there a role for modifying genetic factors? Am J Med Genet A 2014 0.78
22 Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients. Biol Blood Marrow Transplant 2010 0.76
23 Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development. PLoS Genet 2017 0.75