| # | Title | Journal | Year | Citations |
|---|
| 1 | Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer | Nature Genetics | 2013 | 493 |
| 2 | Atlas of the clinical genetics of human dilated cardiomyopathy | European Heart Journal | 2015 | 456 |
| 3 | Association of Type and Location ofBRCA1andBRCA2Mutations With Risk of Breast and Ovarian Cancer | JAMA - Journal of the American Medical Association | 2015 | 390 |
| 4 | Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer | Nature Genetics | 2017 | 356 |
| 5 | Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer | Nature Genetics | 2017 | 289 |
| 6 | Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk | PLoS Genetics | 2013 | 244 |
| 7 | Klinefelter syndrome in clinical practice | Nature Reviews Urology | 2007 | 225 |
| 8 | Identification of six new susceptibility loci for invasive epithelial ovarian cancer | Nature Genetics | 2015 | 221 |
| 9 | Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy | American Journal of Medical Genetics, Part A | 2010 | 163 |
| 10 | Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers | European Urology | 2019 | 148 |
| 11 | Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 | Nature Genetics | 2016 | 125 |
| 12 | Fertility and pregnancy outcome in Danish women with Turner syndrome | Clinical Genetics | 2002 | 121 |
| 13 | Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients | European Journal of Human Genetics | 2010 | 114 |
| 14 | Risk‐reducing mastectomy and salpingo‐oophorectomy in unaffected BRCA mutation carriers: uptake and timing* | Clinical Genetics | 2010 | 102 |
| 15 | The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level | Human Genetics | 2008 | 101 |
| 16 | Phenotype and 244k array‐CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1‐qter | American Journal of Medical Genetics, Part A | 2009 | 95 |
| 17 | Annual surveillance by CA125 and transvaginal ultrasound for ovarian cancer in both high‐risk and population risk women is ineffective | BJOG: an International Journal of Obstetrics and Gynaecology | 2007 | 94 |
| 18 | Klinefelter's syndrome, type 2 diabetes and the metabolic syndrome: the impact of body composition | Molecular Human Reproduction | 2010 | 88 |
| 19 | Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 | Breast Cancer Research | 2016 | 88 |
| 20 | Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study | BJU International | 2011 | 83 |
| 21 | Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants | Genetics in Medicine | 2020 | 82 |
| 22 | Heterogenous mismatch-repair status in colorectal cancer | Diagnostic Pathology | 2014 | 81 |
| 23 | Morbidity and mortality in Klinefelter syndrome (47,XXY) | Acta Paediatrica, International Journal of Paediatrics | 2011 | 78 |
| 24 | Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus | Nature Communications | 2016 | 78 |
| 25 | Body composition, metabolic syndrome and type 2 diabetes in Klinefelter syndrome | Acta Paediatrica, International Journal of Paediatrics | 2011 | 69 |
| 26 | Bone mineral density in Klinefelter syndrome is reduced and primarily determined by muscle strength and resorptive markers, but not directly by testosterone | Osteoporosis International | 2011 | 67 |
| 27 | Socioeconomic Trajectories Affect Mortality in Klinefelter Syndrome | Journal of Clinical Endocrinology and Metabolism | 2011 | 64 |
| 28 | Allele-specific relative telomere lengths are inherited | Human Genetics | 2006 | 62 |
| 29 | Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study | BMJ Open | 2012 | 62 |
| 30 | The role of hypogonadism in Klinefelter Syndrome | Asian Journal of Andrology | 2014 | 56 |
| 31 | Genotype and phenotype in Klinefelter syndrome - impact of androgen receptor polymorphism and skewed X inactivation | Journal of Developmental and Physical Disabilities | 2011 | 55 |
| 32 | The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes | American Journal of Medical Genetics, Part A | 2013 | 53 |
| 33 | 17q12 deletion and duplication syndrome in Denmark—A clinical cohort of 38 patients and review of the literature | American Journal of Medical Genetics, Part A | 2016 | 53 |
| 34 | Genetics of human longevity with emphasis on the relevance of HSP70 as candidate genes | Frontiers in Bioscience - Landmark | 2007 | 52 |
| 35 | Characterization of Fetal Cells from the Maternal Circulation by Microarray Gene Expression Analysis - Could the Extravillous Trophoblasts Be a Target for Future Cell-Based Non-Invasive Prenatal Diagnosis? | Fetal Diagnosis and Therapy | 2014 | 51 |
| 36 | A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other Cancers | PLoS ONE | 2013 | 51 |
| 37 | Breast cancer after bilateral risk-reducing mastectomy | Clinical Genetics | 2011 | 49 |
| 38 | Characterization of the Cancer Spectrum in Men With GermlineBRCA1andBRCA2Pathogenic Variants | JAMA Oncology | 2020 | 48 |
| 39 | DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers | PLoS Genetics | 2014 | 47 |
| 40 | Circulating miRNAs as Potential Biomarkers Associated with Cardiac Remodeling and Fibrosis in Chagas Disease Cardiomyopathy | International Journal of Molecular Sciences | 2019 | 44 |
| 41 | Birth of a healthy girl after ICSI with ejaculated spermatozoa from a man with non-mosaic Klinefelter's syndrome: Case report | Human Reproduction | 2001 | 43 |
| 42 | Heat-Shock Protein 70 Genes and Human Longevity: A View from Denmark | Annals of the New York Academy of Sciences | 2006 | 43 |
| 43 | Incidence, Prevalence, Etiology, and Prognosis of First-Time Chronic Pancreatitis in Young Patients: A Nationwide Cohort Study | Digestive Diseases and Sciences | 2010 | 42 |
| 44 | Short QTc Interval in Males with Klinefelter Syndrome—Influence of CAG Repeat Length, Body Composition, and Testosterone Replacement Therapy | PACE - Pacing and Clinical Electrophysiology | 2015 | 42 |
| 45 | Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark | Cancer Genetics and Cytogenetics | 2006 | 41 |
| 46 | A new marker set that identifies fetal cells in maternal circulation with high specificity | Prenatal Diagnosis | 2014 | 40 |
| 47 | Homologous recombination DNA repair defects in PALB2-associated breast cancers | Npj Breast Cancer | 2019 | 39 |
| 48 | Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness | Cancer Research | 2020 | 39 |
| 49 | Genetic analysis of males from intracytoplasmic sperm injection couples | Clinical Genetics | 2003 | 38 |
| 50 | Neuropsychology and brain morphology in Klinefelter syndrome – the impact of genetics | Andrology | 2014 | 36 |
