| # | 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 | Association of Type and Location ofBRCA1andBRCA2Mutations With Risk of Breast and Ovarian Cancer | JAMA - Journal of the American Medical Association | 2015 | 390 |
| 3 | Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database | Genetics in Medicine | 2020 | 365 |
| 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 | Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families | Journal of Clinical Oncology | 2020 | 270 |
| 7 | Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk | PLoS Genetics | 2013 | 244 |
| 8 | Klinefelter syndrome in clinical practice | Nature Reviews Urology | 2007 | 225 |
| 9 | Mutational spectrum in a worldwide study of 29,700 families withBRCA1orBRCA2mutations | Human Mutation | 2018 | 224 |
| 10 | Identification of six new susceptibility loci for invasive epithelial ovarian cancer | Nature Genetics | 2015 | 221 |
| 11 | GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects | Journal of Medical Genetics | 2017 | 190 |
| 12 | Spontaneous preterm delivery in primiparous women at low risk in Denmark: population based study | BMJ: British Medical Journal | 2006 | 185 |
| 13 | A distinct population of clonogenic and multipotent murine follicular keratinocytes residing in the upper isthmus | Journal of Cell Science | 2008 | 166 |
| 14 | Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities | Human Genetics | 1997 | 163 |
| 15 | The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population | Atherosclerosis | 2005 | 159 |
| 16 | Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly | American Journal of Human Genetics | 2008 | 145 |
| 17 | Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies | Human Mutation | 2012 | 145 |
| 18 | Transcriptional regulator PRDM12 is essential for human pain perception | Nature Genetics | 2015 | 137 |
| 19 | Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders | American Journal of Human Genetics | 2016 | 132 |
| 20 | Protein Expression of TNF-α in Psoriatic Skin Is Regulated at a Posttranscriptional Level by MAPK-Activated Protein Kinase 2 | Journal of Immunology | 2006 | 130 |
| 21 | Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 | European Journal of Human Genetics | 2012 | 129 |
| 22 | Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database | Human Mutation | 2012 | 109 |
| 23 | Prevalence and patient characteristics of Mayer–Rokitansky–Küster–Hauser syndrome: a nationwide registry-based study | Human Reproduction | 2016 | 107 |
| 24 | Potential diagnostic consequences of applying non‐invasive prenatal testing: population‐based study from a country with existing first‐trimester screening | Ultrasound in Obstetrics and Gynecology | 2014 | 106 |
| 25 | Widespread DNA hypomethylation and differential gene expression in Turner syndrome | Scientific Reports | 2016 | 106 |
| 26 | Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk | PLoS Genetics | 2013 | 105 |
| 27 | Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies | Molecular Syndromology | 2016 | 103 |
| 28 | Risk‐reducing mastectomy and salpingo‐oophorectomy in unaffected BRCA mutation carriers: uptake and timing* | Clinical Genetics | 2010 | 102 |
| 29 | Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype | Ultrasound in Obstetrics and Gynecology | 2011 | 102 |
| 30 | The load of short telomeres, estimated by a new method, Universal STELA, correlates with number of senescent cells | Aging Cell | 2010 | 101 |
| 31 | Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB | American Journal of Human Genetics | 2012 | 97 |
| 32 | Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer | Nature Communications | 2016 | 93 |
| 33 | Real-Time Quantitative PCR of Microdissected Paraffin-Embedded Breast Carcinoma | Journal of Molecular Diagnostics | 2004 | 92 |
| 34 | 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 |
| 35 | Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis | Journal of Medical Genetics | 2010 | 82 |
| 36 | A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma | Clinical Genetics | 2015 | 81 |
| 37 | Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis | American Journal of Medical Genetics, Part A | 2013 | 76 |
| 38 | DNA hypermethylation and differential gene expression associated with Klinefelter syndrome | Scientific Reports | 2018 | 75 |
| 39 | Identification of epidermal progenitors for the Merkel cell lineage | Development (Cambridge) | 2010 | 71 |
| 40 | Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 | Breast Cancer Research | 2011 | 71 |
| 41 | Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women | Prenatal Diagnosis | 2016 | 68 |
| 42 | Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes | PLoS Genetics | 2020 | 64 |
| 43 | Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition | Danish Medical Journal | 2013 | 64 |
| 44 | The cervical mucus plug inhibits, but does not block, the passage of ascending bacteria from the vagina during pregnancy | Acta Obstetricia Et Gynecologica Scandinavica | 2014 | 62 |
| 45 | A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans | Genetics | 2017 | 62 |
| 46 | Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism | European Journal of Human Genetics | 1998 | 59 |
| 47 | Identification of Novel and Known Mutations in the Genes for Keratin 5 and 14 in Danish Patients with Epidermolysis Bullosa Simplex: Correlation Between Genotype and Phenotype | Journal of Investigative Dermatology | 1999 | 58 |
| 48 | The epidemiology of sex chromosome abnormalities | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2020 | 57 |
| 49 | Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members | Breast Cancer Research and Treatment | 2012 | 56 |
| 50 | Cardiac involvement in myotonic dystrophy: a nationwide cohort study | European Heart Journal | 2014 | 56 |
