| # | Title | Journal | Year | Citations |
|---|
| 1 | Deletion of a DNA sequence at the chromosomal region 3p21 in all major types of lung cancer | Nature | 1987 | 393 |
| 2 | Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study | Lancet, The | 1999 | 218 |
| 3 | Pathogenesis of adult testicular germ cell tumors | Cancer Genetics and Cytogenetics | 1990 | 169 |
| 4 | Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy | Neuromuscular Disorders | 1999 | 154 |
| 5 | Abundance of protein-bound sulfhydryl and bisulfide groups at chromosomal nucleolus organizing regions | Chromosoma | 1980 | 110 |
| 6 | Effects of Keratin 14 Ablation on the Clinical and Cellular Phenotype in a Kindred with Recessive Epidermolysis Bullosa Simplex | Journal of Investigative Dermatology | 1996 | 103 |
| 7 | Genome-wide association study of coronary and aortic calcification implicates risk loci for coronary artery disease and myocardial infarction | Atherosclerosis | 2013 | 100 |
| 8 | Morphologic, immunologic, enzymehistochemical and chromosomal analysis of a cell line derived from Hodgkin's disease. Evidence for a B-cell origin of sternberg-reed cells | Cancer | 1985 | 95 |
| 9 | Cytogenetic analysis of ten human seminomas | Cancer Research | 1989 | 86 |
| 10 | Molecular mapping of deletion sites in the short arm of chromosome 3 in human lung cancer | Genes Chromosomes and Cancer | 1990 | 84 |
| 11 | Chromosomal changes in human primary testicular nonseminomatous germ cell tumors | Cancer Research | 1989 | 84 |
| 12 | Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe | Journal of Medical Screening | 2000 | 75 |
| 13 | The spectrum of splenogonadal fusion | European Journal of Pediatrics | 1985 | 74 |
| 14 | Selective staining of the same set of nucleolar phosphoproteins by silver and Giemsa | Chromosoma | 1984 | 71 |
| 15 | Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: Isolation and use of J66 (DXS268), a distal intragenic marker | Genomics | 1987 | 71 |
| 16 | Heterogeneity of neural tube defects in europe: The significance of site of defect and presence of other major anomalies in relation to geographic differences in prevalence | Teratology | 1991 | 66 |
| 17 | Chromosomal constitution and developmental potential of human germ cell tumors and teratomas | Cancer Genetics and Cytogenetics | 1997 | 58 |
| 18 | A Comparative Morphological and Functional Study of Gastritis with and Without Autoantibodies | Gastroenterology | 1966 | 51 |
| 19 | i(12p)-negative testicular germ cell tumors | Cancer Genetics and Cytogenetics | 1988 | 48 |
| 20 | Development of multiple endocrine neoplasia type 2A does not involve substantial deletions of chromosome 10 | Genomics | 1989 | 47 |
| 21 | Follow-up and pregnancy outcome after a diagnosis of mosaicism in CVS | Prenatal Diagnosis | 1991 | 46 |
| 22 | Chromosomal changes in mature residual teratomas following polychemotherapy | Cancer Research | 1989 | 46 |
| 23 | Poland anomaly in mother and daughter | American Journal of Medical Genetics Part A | 1989 | 44 |
| 24 | Citrullinemia, Report of a Case, with Studies on Antenatal Diagnosis | Pediatric Research | 1973 | 43 |
| 25 | The predictive value of cytogenetic diagnosis after CVS: 1500 cases | Prenatal Diagnosis | 1990 | 39 |
| 26 | Identical chromosome translocations involving the region of the c-myb oncogene in four metastases of a mediastinal teratocarcinoma | Cancer Genetics and Cytogenetics | 1985 | 38 |
| 27 | Acute nonlymphocytic leukemia 5 years after treatment with cisplatin, vinblastine, and bleomycin for disseminated testicular cancer | Cancer | 1986 | 37 |
| 28 | Linkage analysis of families with hereditary retinoblastoma: nonpenetrance of mutation, revealed by combined use of markers within and flanking the RB1 gene | American Journal of Human Genetics | 1989 | 36 |
| 29 | Direct molecular analysis of a deletion of 3p in tumors from patients with sporadic renal cell carcinoma | Cancer Genetics and Cytogenetics | 1988 | 33 |
| 30 | Age-dependent variability of ribosomal RNA-gene activity in man as determined from frequencies of silver staining nucleolus organizing regions on metaphase chromosomes of lymphocytes and fibroblasts | Mechanisms of Ageing and Development | 1979 | 32 |
| 31 | Karyotyping and DNA flow cytometry of an orchidoblastoma | Cancer Genetics and Cytogenetics | 1988 | 30 |
| 32 | A malignant mixed gonadal stromal tumor of the testis with heterologous components and i(12p) in one of its metastases | Cancer Genetics and Cytogenetics | 1989 | 26 |
| 33 | Well-identifiable human chromosomes Isolated from mitotic fibroblasts by a new method | Human Genetics | 1982 | 25 |
| 34 | A straightforward approach to isolate DNA sequences with potential linkage to the retinoblastoma locus | Human Genetics | 1986 | 25 |
| 35 | Involvement of sulfhydryl groups of chromosomal proteins in sister chromatid differentiation | Chromosoma | 1980 | 22 |
| 36 | Abnormal karyotype in the chorion, not confirmed in a subsequently aborted fetus | Prenatal Diagnosis | 1986 | 21 |
| 37 | Cytogenetics of a case of osteosarcoma | Cancer Genetics and Cytogenetics | 1988 | 21 |
| 38 | Combined Deficiency of Factor V and Factor VIII: Report of a Family and Genetic Analysis | British Journal of Haematology | 1972 | 20 |
| 39 | A 46,XY female with mixed gonadal dysgenesis and a 48,XY,+7,+i(12p) chromosome pattern in a primary gonadal tumor | Cancer Genetics and Cytogenetics | 1991 | 19 |
| 40 | Localization of amplified c-myc and n-myc in small cell lung cancer cell lines | Cancer Genetics and Cytogenetics | 1989 | 16 |
| 41 | Heterogeneity of human chromosome 9 constitutive heterochromatin as revealed by sequential distamycin A/DAPI staining and C-banding | Human Genetics | 1981 | 15 |
| 42 | Screening for Cystic Fibrosis | Acta Paediatrica, International Journal of Paediatrics | 1987 | 15 |
| 43 | Cytogenetic study of a combined germ cell tumor of the testis | Cancer Genetics and Cytogenetics | 1988 | 15 |
| 44 | PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS | Lancet, The | 1988 | 15 |
| 45 | Chromosomal sublocalization of the 2;13 translocation breakpoint in alveolar rhabdomyosarcoma | Genes Chromosomes and Cancer | 1992 | 15 |
| 46 | The role of chromosomal proteins in the induction of a differential staining of sister chromatids by light | The Histochemical Journal | 1981 | 14 |
| 47 | Evidence of a second gamete fusion after the first cleavage of the zygote in a 47,XX, + 18/70,XXX, + 18 mosaic. A remarkable diploid-triploid discrepancy after CVS | Prenatal Diagnosis | 1993 | 14 |
| 48 | A method for analysing fertility of heterozygotes for autosomal recessive disorders, with special reference to cystic fibrosis, Tay-Sachs disease and phenylketonuria | Annals of Human Genetics | 1977 | 13 |
| 49 | Stabilization of chromosomes by DNA intercalators for flow karyotyping and identification by banding of isolated chromosomes | Histochemistry | 1987 | 13 |
| 50 | Complete deficiency of constitutive heterochromatin on a human chromosome 9 | Human Genetics | 1979 | 13 |
