| Vanishing white matter disease | Lancet Neurology, The | 2006 | 261 |
| Neonatal porencephaly and adult stroke related to mutations in collagen IV A1 | Annals of Neurology | 2006 | 124 |
| Informed decision making in the context of prenatal screening | Patient Education and Counseling | 2006 | 111 |
| Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma | BMC Medical Genetics | 2006 | 86 |
| Fanconi anemia proteins are required to prevent accumulation of replication-associated DNA double-strand breaks | Molecular and Cellular Biology | 2006 | 84 |
| Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype | Movement Disorders | 2006 | 83 |
| Vanishing white matter disease: a review with focus on its genetics | Mental Retardation and Developmental Disabilities Research Reviews | 2006 | 62 |
| Inducibility of nuclear Rad51 foci after DNA damage distinguishes all Fanconi anemia complementation groups from D1/BRCA2 | Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis | 2006 | 59 |
| Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1 | Human Mutation | 2006 | 54 |
| Genetic and clinical analysis of a large Dutch Gilles de la Tourette family | Molecular Psychiatry | 2006 | 50 |
| Regulation of protein synthesis in lymphoblasts from vanishing white matter patients | Neurobiology of Disease | 2006 | 38 |
| Tetratricopeptide-motif-mediated interaction of FANCG with recombination proteins XRCC3 and BRCA2 | DNA Repair | 2006 | 38 |
| A call for the creation of personalized medicine databases | Nature Reviews Drug Discovery | 2006 | 38 |
| Cellular characterization of cells from the Fanconi anemia complementation group, FA-D1/BRCA2 | Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis | 2006 | 36 |
| CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia | American Journal of Medical Genetics Part B: Neuropsychiatric Genetics | 2006 | 32 |
| Personalized medicine: decades away? | Pharmacogenomics | 2006 | 26 |
| The nuclear accumulation of the Fanconi anemia protein FANCE depends on FANCC | DNA Repair | 2006 | 18 |
| Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele | American Journal of Medical Genetics, Part A | 2006 | 15 |
| Late-onset common cancers in a kindred with an Arg213Gln TP53 germline mutation | Familial Cancer | 2006 | 10 |
| Teaching and practicing pharmacogenomics: a complex matter | Pharmacogenomics | 2006 | 7 |
| Personalized medicine: new perspectives - new ethics? | Personalized Medicine | 2006 | 7 |
| Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the Netherlands | Human Genetics | 2006 | 4 |
| The potential of the European network of congenital anomaly registers (EUROCAT) for drug safety surveillance: a descriptive study | Pharmacoepidemiology and Drug Safety | 2006 | 3 |
| Segregation ratio in cranio-cerebello-cardiac syndrome | European Journal of Human Genetics | 2006 | 1 |
| Does stimulating self-care increase self-care behaviour for minor illnesses of Dutch and Turkish inhabitants of a deprived area in The Netherlands? | Patient Education and Counseling | 2006 | 1 |
