| # | Title | Journal | Year | Citations |
|---|
| 1 | Proteomic and Functional Analyses Reveal a Mitochondrial Dysfunction in P301L Tau Transgenic Mice | Journal of Biological Chemistry | 2005 | 362 |
| 2 | DJ-1 Transcriptionally Up-regulates the Human Tyrosine Hydroxylase by Inhibiting the Sumoylation of Pyrimidine Tract-binding Protein-associated Splicing Factor | Journal of Biological Chemistry | 2006 | 162 |
| 3 | Localization of the Gene for Rapidly Progressive Autosomal Dominant Parkinsonism and Dementia with Pallido-Ponto-Nigral Degeneration to Chromosome 17q21 | Human Molecular Genetics | 1996 | 120 |
| 4 | Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene | European Journal of Human Genetics | 1999 | 84 |
| 5 | Hereditary Pick's disease with the G272V tau mutation shows predominant three-repeat tau pathology | Brain | 2005 | 76 |
| 6 | Comparative genomic hybridization: A new tool in cancer pathology | Human Pathology | 1996 | 65 |
| 7 | The role of type III collagen in spontaneous cervical arterial dissections | Annals of Neurology | 1998 | 57 |
| 8 | Progranulin mutations in Dutch familial frontotemporal lobar degeneration | European Journal of Human Genetics | 2007 | 53 |
| 9 | The Genomic Organization of the Fanconi Anemia Group A (FAA) Gene | Genomics | 1997 | 51 |
| 10 | Characterization and Screening for Mutations of the Growth Arrest-Specific 11 (GAS11) andC16orf3Genes at 16q24.3 in Breast Cancer | Genomics | 1998 | 47 |
| 11 | 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 | 34 |
| 12 | Haplotype identity between individuals who share a CFTR mutation allele "identical by descent": demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations | Human Genetics | 1996 | 32 |
| 13 | Benign Hereditary Chorea: Clinical, Neuroimaging, and Genetic Findings | Journal of Child Neurology | 2007 | 30 |
| 14 | Construction of a High-Resolution Physical and Transcription Map of Chromosome 16q24.3: A Region of Frequent Loss of Heterozygosity in Sporadic Breast Cancer | Genomics | 1998 | 28 |
| 15 | Explorative Study of Costs, Effects and Savings of Screening for Female Fragile X Premutation and Full Mutation Carriers in the General Population | Public Health Genomics | 1998 | 27 |
| 16 | Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations | Neuroscience Letters | 1999 | 27 |
| 17 | SOD-A and chromosome 21 | Human Genetics | 1981 | 24 |
| 18 | Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands | Human Genetics | 1996 | 24 |
| 19 | Relationship between the parameters cellular differentiation, doubling time and platinum accumulation and cisplatin sensitivity in a panel of head and neck cancer cell lines | | 1997 | 23 |
| 20 | Impaired DNA repair capacity in skin fibroblasts from various hereditary cancer-prone syndromes | Mutation Research DNA Repair | 1998 | 21 |
| 21 | Prevalence of ?F508 cystic fibrosis carriers in The Netherlands: logistic regression on sex, age, region of residence and number of offspring | Human Genetics | 1996 | 19 |
| 22 | Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3 | British Journal of Cancer | 1999 | 15 |
| 23 | Preovulatory Overripeness of the Egg in the Human Subject | International Journal of Gynecology and Obstetrics | 1976 | 12 |
| 24 | Retrospective Studies of the Twinning Rate in Scandinavia | Acta Geneticae Medicae Et Gemellologiae | 1974 | 11 |
| 25 | Efficacy of cascade testing for fragile X syndrome | Journal of Medical Screening | 1999 | 11 |
| 26 | Anticipation in familial intracranial aneurysms in consecutive generations | European Journal of Human Genetics | 2003 | 11 |
| 27 | Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia c gene,FAC | Human Mutation | 1996 | 10 |
| 28 | Type III Collagen Deficiency in a Family with Intracranial Aneurysms | Cerebrovascular Diseases | 2001 | 10 |
| 29 | Genetic Influences on Thought Problems in 7-Year-Olds: A Twin-Study of Genetic, Environmental and Rater Effects | Twin Research and Human Genetics | 2008 | 10 |
| 30 | Changes in opinions about human germline gene editing as a result of the Dutch DNA-dialogue project | European Journal of Human Genetics | 2023 | 10 |
| 31 | Genomics and justice: mitigating the potential harms and inequities that arise from the implementation of genomics in medicine | Human Genetics | 2022 | 7 |
| 32 | Exon 6 skipping in the fanconi anemia C gene associated with a nonsense/missense mutation (775C→T) in exon 5: The first example of a nonsense mutation in one exon causing skipping of another downstream | Human Mutation | 1998 | 6 |
| 33 | Preconceptional Screening of Couples for Carriers of Cystic Fibrosis: A Prospective Evaluation of Effects, Costs and Savings for Different Mutation Detection Methods | Public Health Genomics | 1999 | 6 |
| 34 | Growth hormone deficiency in one of two siblings with Fanconi’s anaemia complementation group FA-D | Growth Hormone and IGF Research | 2000 | 6 |
| 35 | Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate | Scientific Reports | 2022 | 6 |
| 36 | PRDM10directsFLCNexpression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis | Human Molecular Genetics | 2023 | 5 |
| 37 | SLC26A1 is a major determinant of sulfate homeostasis in humans | Journal of Clinical Investigation | 2023 | 5 |
| 38 | Seventh BHD international symposium: recent scientific and clinical advancement | Oncotarget | 2022 | 4 |
| 39 | Birt-Hogg-Dubé syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice | BMC Pulmonary Medicine | 2022 | 4 |
| 40 | Carriers of the p.P522R variant in PLCγ2 have a slightly more responsive immune system | Molecular Neurodegeneration | 2023 | 4 |
| 41 | Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene | Journal of Human Genetics | 2023 | 3 |
| 42 | High-Grade Serous Carcinoma at Risk-Reducing Salpingo-Oophorectomy in Asymptomatic Carriers of BRCA1/2 Pathogenic Variants: Prevalence and Clinical Factors | Journal of Clinical Oncology | 2023 | 3 |
| 43 | Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry | Cancers | 2022 | 2 |
| 44 | Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors | Molecular Genetics & Genomic Medicine | 0 | 2 |
| 45 | Mapping the Response of Human Osteocytes in Native Matrix to Mechanical Loading Using RNA Sequencing | JBMR Plus | 2023 | 2 |
| 46 | Should parents be informed about the carrier status of their fetus? | American Journal of Medical Genetics Part A | 1996 | 1 |
| 47 | Dynamics of reproductive genetic technologies: Perspectives of professional stakeholders | PLoS ONE | 2022 | 1 |
| 48 | Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes | American Journal of Medical Genetics, Part A | 0 | 1 |
| 49 | Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships | American Journal of Medical Genetics, Part A | 0 | 1 |
| 50 | TGF-Beta Induces Activin A Production in Dermal Fibroblasts Derived from Patients with Fibrodysplasia Ossificans Progressiva | International Journal of Molecular Sciences | 2023 | 1 |
