| 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 |
| Lysosomal storage diseases in non-immune hydrops fetalis pregnancies | Clinica Chimica Acta | 2006 | 43 |
| 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 |
| CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia | Muscle and Nerve | 2006 | 23 |
| The nuclear accumulation of the Fanconi anemia protein FANCE depends on FANCC | DNA Repair | 2006 | 18 |
| Comparison of multiplex ligation dependent probe amplification to immunohistochemistry for assessing HER-2/neu amplification in invasive breast cancer | Biotechnic and Histochemistry | 2006 | 17 |
| Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele | American Journal of Medical Genetics, Part A | 2006 | 15 |
| Developing and optimizing a decisional instrument using self-reported ancestry for carrier screening in a multi-ethnic society | Genetics in Medicine | 2006 | 15 |
| The frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populations | BMC Medical Genetics | 2006 | 13 |
| Type 2 diabetes and inheritance: what information do diabetes organizations provide on the Internet? | Diabetic Medicine | 2006 | 10 |
| Late-onset common cancers in a kindred with an Arg213Gln TP53 germline mutation | Familial Cancer | 2006 | 10 |
