| # | 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 | Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease | American Journal of Human Genetics | 2005 | 416 |
| 3 | Association of Type and Location ofBRCA1andBRCA2Mutations With Risk of Breast and Ovarian Cancer | JAMA - Journal of the American Medical Association | 2015 | 390 |
| 4 | Clinical Genetic Testing for Familial Hypercholesterolemia | Journal of the American College of Cardiology | 2018 | 387 |
| 5 | The Human Chitotriosidase Gene | Journal of Biological Chemistry | 1998 | 360 |
| 6 | Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer | Nature Genetics | 2017 | 356 |
| 7 | Flecainide Therapy Reduces Exercise-Induced Ventricular Arrhythmias in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia | Journal of the American College of Cardiology | 2011 | 352 |
| 8 | Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers | European Heart Journal | 2015 | 338 |
| 9 | The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome | Journal of the American College of Cardiology | 2009 | 303 |
| 10 | Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer | Nature Genetics | 2017 | 289 |
| 11 | Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome | European Journal of Human Genetics | 2005 | 284 |
| 12 | Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization | Nature Genetics | 2014 | 281 |
| 13 | Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk | PLoS Genetics | 2013 | 244 |
| 14 | Responsible implementation of expanded carrier screening | European Journal of Human Genetics | 2016 | 240 |
| 15 | Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error | Nature Genetics | 2018 | 239 |
| 16 | CONCOR, an initiative towards a national registry and DNA-bank of patients with congenital heart disease in the Netherlands: Rationale, design, and first results | European Journal of Epidemiology | 2005 | 232 |
| 17 | Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness | European Journal of Human Genetics | 2005 | 231 |
| 18 | Four DAZ Genes in Two Clusters Found in the AZFc Region of the Human Y Chromosome | Genomics | 2000 | 228 |
| 19 | Mutational spectrum in a worldwide study of 29,700 families withBRCA1orBRCA2mutations | Human Mutation | 2018 | 224 |
| 20 | Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome | European Journal of Human Genetics | 2009 | 194 |
| 21 | Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype | American Journal of Human Genetics | 2006 | 186 |
| 22 | A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families | Journal of Molecular and Cellular Cardiology | 2005 | 184 |
| 23 | HCN4 Mutations in Multiple Families With Bradycardia and Left Ventricular Noncompaction Cardiomyopathy | Journal of the American College of Cardiology | 2014 | 173 |
| 24 | Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups | American Journal of Medical Genetics, Part A | 2016 | 163 |
| 25 | A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence | Journal of the American College of Cardiology | 2014 | 160 |
| 26 | The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels | Journal of Inherited Metabolic Disease | 2007 | 158 |
| 27 | Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation | American Journal of Human Genetics | 2009 | 158 |
| 28 | A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization | Cardiovascular Research | 2003 | 156 |
| 29 | Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: The experience of a tertiary referral center in The Netherlands | Heart Rhythm | 2010 | 156 |
| 30 | Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families | British Journal of Cancer | 2011 | 142 |
| 31 | Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma | Clinical Cancer Research | 2017 | 140 |
| 32 | Obesity and type 2 diabetes in sub-Saharan Africans – Is the burden in today’s Africa similar to African migrants in Europe? The RODAM study | BMC Medicine | 2016 | 132 |
| 33 | Variants in the 3′ untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner | European Heart Journal | 2012 | 130 |
| 34 | Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings | American Journal of Medical Genetics, Part A | 2010 | 128 |
| 35 | Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 | Nature Genetics | 2013 | 123 |
| 36 | Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact | Prenatal Diagnosis | 2016 | 122 |
| 37 | Gender‐specific differences in major cardiac events and mortality in lamin A/C mutation carriers | European Journal of Heart Failure | 2013 | 120 |
| 38 | PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies | Orphanet Journal of Rare Diseases | 2014 | 120 |
| 39 | Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome | Gut | 2010 | 118 |
| 40 | Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy | Ophthalmology | 2012 | 115 |
| 41 | Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas | Journal of Medical Genetics | 2011 | 111 |
| 42 | Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers | Breast Cancer Research and Treatment | 2019 | 111 |
| 43 | Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: A cross‐sectional cohort study | American Journal of Medical Genetics, Part A | 2009 | 110 |
| 44 | CDH1‐related hereditary diffuse gastric cancer syndrome: Clinical variations and implications for counseling | International Journal of Cancer | 2012 | 110 |
| 45 | Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study | Cardiovascular Research | 2015 | 108 |
| 46 | Women have lower chances than men to be resuscitated and survive out-of-hospital cardiac arrest | European Heart Journal | 2019 | 108 |
| 47 | Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri | Neurogenetics | 2012 | 107 |
| 48 | Genetics and phenomics of hypothyroidism and goiter due to TPO mutations | Molecular and Cellular Endocrinology | 2010 | 106 |
| 49 | Screening behavior of individuals at high risk for colorectal cancer | Gastroenterology | 2005 | 105 |
| 50 | Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk | PLoS Genetics | 2013 | 105 |
