| # | Title | Journal | Year | Citations |
|---|
| 1 | From squiggle to basepair: computational approaches for improving nanopore sequencing read accuracy | Genome Biology | 2018 | 485 |
| 2 | Mapping and phasing of structural variation in patient genomes using nanopore sequencing | Nature Communications | 2017 | 315 |
| 3 | Evidence-Based Assessment of Genes in Dilated Cardiomyopathy | Circulation | 2021 | 213 |
| 4 | International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework | Circulation Genomic and Precision Medicine | 2021 | 112 |
| 5 | European guidelines for constitutional cytogenomic analysis | European Journal of Human Genetics | 2019 | 108 |
| 6 | Drug Repurposing for Rare Diseases | Trends in Pharmacological Sciences | 2021 | 105 |
| 7 | Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS | Journal of Allergy and Clinical Immunology | 2022 | 105 |
| 8 | CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language | Nature Communications | 2018 | 70 |
| 9 | Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications | Brain | 2022 | 69 |
| 10 | Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications | Journal of Inherited Metabolic Disease | 2019 | 68 |
| 11 | The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy | European Heart Journal | 2020 | 54 |
| 12 | International consensus recommendations on the diagnostic work-up for malformations of cortical development | Nature Reviews Neurology | 2020 | 53 |
| 13 | Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2019 | 50 |
| 14 | Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders | Genome Medicine | 2021 | 50 |
| 15 | Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging | American Journal of Human Genetics | 2019 | 48 |
| 16 | Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients’ Dried Blood Spots and Plasma | Metabolites | 2019 | 48 |
| 17 | De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder | Human Genetics | 2018 | 46 |
| 18 | The Complexity of Genotype‐Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients | HemaSphere | 2019 | 43 |
| 19 | Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome | Molecular Psychiatry | 2021 | 43 |
| 20 | Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis | Human Molecular Genetics | 2018 | 42 |
| 21 | Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders | Human Genetics and Genomics Advances | 2022 | 42 |
| 22 | De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder | American Journal of Human Genetics | 2019 | 41 |
| 23 | Whole Genome Analysis of Ovarian Granulosa Cell Tumors Reveals Tumor Heterogeneity and a High-Grade TP53-Specific Subgroup | Cancers | 2020 | 41 |
| 24 | Diagnosing arrhythmogenic right ventricular cardiomyopathy by 2010 Task Force Criteria: clinical performance and simplified practical implementation | Europace | 2020 | 40 |
| 25 | The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unresponsive to standard heart failure therapy | Scientific Reports | 2020 | 38 |
| 26 | Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract | Clinical Journal of the American Society of Nephrology: CJASN | 2021 | 37 |
| 27 | Reconstructing single-cell karyotype alterations in colorectal cancer identifies punctuated and gradual diversification patterns | Nature Genetics | 2021 | 37 |
| 28 | Fetal methotrexate syndrome: A systematic review of case reports | Reproductive Toxicology | 2019 | 33 |
| 29 | Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy | JAMA Neurology | 2019 | 33 |
| 30 | Loss-of-function mutations inKIF14cause severe microcephaly and kidney development defects in humans and zebrafish | Human Molecular Genetics | 2019 | 33 |
| 31 | Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation | Molecular Genetics and Metabolism | 2019 | 31 |
| 32 | Outcomes and comorbidities of SCN1A-related seizure disorders | Epilepsy and Behavior | 2019 | 31 |
| 33 | NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome | PLoS ONE | 2020 | 28 |
| 34 | Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5 | Heart Rhythm | 2020 | 28 |
| 35 | Scalable Workflows and Reproducible Data Analysis for Genomics | Methods in Molecular Biology | 2019 | 25 |
| 36 | UNRAVEL: big data analytics research data platform to improve care of patients with cardiomyopathies using routine electronic health records and standardised biobanking | Netherlands Heart Journal | 2019 | 25 |
| 37 | TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities | American Journal of Human Genetics | 2019 | 25 |
| 38 | Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy | Human Mutation | 2020 | 24 |
| 39 | mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy | Journal of the American Society of Nephrology: JASN | 2021 | 24 |
| 40 | Lower frequency of the HLA-G UTR-4 haplotype in women with unexplained recurrent miscarriage | Journal of Reproductive Immunology | 2018 | 23 |
| 41 | Current Insights into the Role of the Growth Hormone-Insulin-Like Growth Factor System in Short Children Born Small for Gestational Age | Hormone Research in Paediatrics | 2019 | 23 |
| 42 | GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay | Human Molecular Genetics | 2019 | 23 |
| 43 | A scoping review of practice recommendations for clinicians’ communication of uncertainty | Health Expectations | 2021 | 23 |
| 44 | Insulin‐like growth factor‐II and bioactive proteins containing a part of the E‐domain of pro‐insulin‐like growth factor‐II | BioFactors | 2020 | 21 |
| 45 | Safety and efficacy of mitapivat, an oral pyruvate kinase activator, in sickle cell disease: A phase 2, open‐label study | American Journal of Hematology | 2022 | 21 |
| 46 | Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy | Pediatric Nephrology | 2018 | 20 |
| 47 | Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach | Orphanet Journal of Rare Diseases | 2020 | 20 |
| 48 | Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics | Metabolites | 2020 | 20 |
| 49 | Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review | American Journal of Medical Genetics, Part A | 2020 | 19 |
| 50 | Automatic multilabel detection of ICD10 codes in Dutch cardiology discharge letters using neural networks | Npj Digital Medicine | 2021 | 19 |
