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Top Articles

#TitleJournalYearCitations
1Cardiac conduction defects associate with mutations in SCN5ANature Genetics1999549
2Guidelines for diagnostic next-generation sequencingEuropean Journal of Human Genetics2016389
3Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statementNature Reviews Endocrinology2018388
4Clinical Genetic Testing for Familial HypercholesterolemiaJournal of the American College of Cardiology2018387
5A sodium-channel mutation causes isolated cardiac conduction diseaseNature2001377
6Familial hypercholesterolaemiaNature Reviews Disease Primers2017315
7The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT SyndromeJournal of the American College of Cardiology2009303
8Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert PanelGenetics in Medicine2018283
9Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy GenesCirculation Genomic and Precision Medicine2019267
10The Yield of First-Time Endoscopic Ultrasonography in Screening Individuals at a High Risk of Developing Pancreatic CancerAmerican Journal of Gastroenterology2009241
11Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosisEuropean Heart Journal2020239
12Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort studyLancet Oncology, The2011232
13Diagnosis and management of Cornelia de Lange syndrome: first international consensus statementNature Reviews Genetics2018223
14TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the NetherlandsAmerican Journal of Human Genetics2019222
15NEK1 variants confer susceptibility to amyotrophic lateral sclerosisNature Genetics2016218
16tRNA splicing endonuclease mutations cause pontocerebellar hypoplasiaNature Genetics2008217
17Expanding Spectrum of Human RYR2 -Related DiseaseCirculation2007211
18Genetics of early miscarriageBiochimica Et Biophysica Acta - Molecular Basis of Disease2012206
19Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndromeEuropean Journal of Human Genetics2009194
20Genetic aspects of miscarriageBest Practice and Research in Clinical Obstetrics and Gynaecology2000189
21Genetic advances in sarcomeric cardiomyopathies: state of the artCardiovascular Research2015187
22A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two familiesJournal of Molecular and Cellular Cardiology2005184
23Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental DisordersAmerican Journal of Human Genetics2020171
24Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWSHuman Molecular Genetics2001157
25Genetic control of sodium channel functionCardiovascular Research2003157
26A common polymorphism in KCNH2 (HERG) hastens cardiac repolarizationCardiovascular Research2003156
27Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy: systematic review of clinical risk markersEuropace2010155
28Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effectNature Genetics2021155
29AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disordersNature Communications2019150
30Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismJournal of Medical Genetics2014141
31Functional Dysregulation of CDC42 Causes Diverse Developmental PhenotypesAmerican Journal of Human Genetics2018138
32Reproductive outcome after chromosome analysis in couples with two or more miscarriages: case-control studyBMJ: British Medical Journal2006136
33Variants 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 mannerEuropean Heart Journal2012130
34Radioprotection of IDH1-Mutated Cancer Cells by the IDH1-Mutant Inhibitor AGI-5198Cancer Research2015127
35Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathyEuropean Journal of Heart Failure2017127
36BFM-oriented treatment for children with acute lymphoblastic leukemia without cranial irradiation and treatment reduction for standard risk patients: results of DCLSG protocol ALL-8 (1991–1996)Leukemia2002122
37Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndromeHuman Genetics2014122
38Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experienceJournal of Medical Genetics2005118
39The driver and passenger effects of isocitrate dehydrogenase 1 and 2 mutations in oncogenesis and survival prolongationBiochimica Et Biophysica Acta: Reviews on Cancer2014118
40High rate of mosaicism in individuals with Cornelia de Lange syndromeJournal of Medical Genetics2013115
41Selective chromosome analysis in couples with two or more miscarriages: case-control studyBMJ: British Medical Journal2005112
42International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource FrameworkCirculation Genomic and Precision Medicine2021112
43A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathyHuman Mutation2009105
44Digital PCR quantification of MGMT methylation refines prediction of clinical benefit from alkylating agents in glioblastoma and metastatic colorectal cancerAnnals of Oncology2015105
45Genetics of Beckwith‐Wiedemann syndrome‐associated tumors: Common genetic pathwaysGenes Chromosomes and Cancer2000101
46Arrhythmogenic cardiomyopathy: pathology, genetics, and concepts in pathogenesisCardiovascular Research201798
47Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3Cell Stem Cell201997
48Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?European Heart Journal200696
49HERG Channel (Dys)function Revealed by Dynamic Action Potential Clamp TechniqueBiophysical Journal200590
50The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The NetherlandsEuropean Journal of Human Genetics201790