| Whole-genome sequence variation, population structure and demographic history of the Dutch population Nature genetics 46 (8), 818-825, 2014 | 739 | 2014 |
| Genotype harmonizer: automatic strand alignment and format conversion for genotype data integration P Deelen, MJ Bonder, KJ Van Der Velde, HJ Westra, E Winder, ... BMC research notes 7, 1-4, 2014 | 190 | 2014 |
| The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button MA Swertz, M Dijkstra, T Adamusiak, JK van der Velde, A Kanterakis, ... BMC bioinformatics 11, 1-9, 2010 | 141 | 2010 |
| Improving the diagnostic yield of exome-sequencing by predicting gene–phenotype associations using large-scale gene expression analysis P Deelen, S van Dam, JC Herkert, JM Karjalainen, H Brugge, KM Abbott, ... Nature communications 10 (1), 2837, 2019 | 137 | 2019 |
| Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’ P Deelen, A Menelaou, EM Van Leeuwen, A Kanterakis, F Van Dijk, ... European Journal of Human Genetics 22 (11), 1321-1326, 2014 | 127 | 2014 |
| Rapid targeted genomics in critically ill newborns CC Van Diemen, WS Kerstjens-Frederikse, KA Bergman, TJ De Koning, ... Pediatrics 140 (4), 2017 | 123 | 2017 |
| The 1000IBD project: multi-omics data of 1000 inflammatory bowel disease patients; data release 1 F Imhann, KJ Van der Velde, R Barbieri, R Alberts, MD Voskuil, ... BMC gastroenterology 19, 1-10, 2019 | 120 | 2019 |
| MOLGENIS research: advanced bioinformatics data software for non-bioinformaticians KJ van der Velde, F Imhann, B Charbon, C Pang, D van Enckevort, ... Bioinformatics 35 (6), 1076-1078, 2019 | 94 | 2019 |
| An Overview and Online Registry of Microvillus Inclusion Disease Patients and their MYO5B Mutations KJ van der Velde, HS Dhekne, MA Swertz, S Sirigu, V Ropars, PC Vinke, ... Human Mutation 34 (12), 1597-1605, 2013 | 88 | 2013 |
| Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels P Deelen, DV Zhernakova, M De Haan, M Van Der Sijde, MJ Bonder, ... Genome medicine 7, 1-13, 2015 | 84 | 2015 |
| GAVIN: Gene-Aware variant interpretation for medical sequencing KJ van der Velde, EN de Boer, CC van Diemen, B Sikkema-Raddatz, ... Genome biology 18, 1-10, 2017 | 76 | 2017 |
| MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update HS Dhekne, O Pylypenko, AW Overeem, RJ Ferreira, KJ van Der Velde, ... Human Mutation 39 (3), 333-344, 2018 | 70 | 2018 |
| Global Genetic Robustness of the Alternative Splicing Machinery in Caenorhabditis elegans Y Li, R Breitling, LB Snoek, KJ Van Der Velde, MA Swertz, J Riksen, ... Genetics 186 (1), 405-410, 2010 | 69 | 2010 |
| Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels EM Van Leeuwen, LC Karssen, J Deelen, A Isaacs, C Medina-Gomez, ... Nature communications 6 (1), 6065, 2015 | 61 | 2015 |
| OntoCAT--simple ontology search and integration in Java, R and REST/JavaScript T Adamusiak, T Burdett, N Kurbatova, K Joeri van der Velde, ... BMC bioinformatics 12, 1-12, 2011 | 58 | 2011 |
| SORTA: a system for ontology-based re-coding and technical annotation of biomedical phenotype data C Pang, A Sollie, A Sijtsma, D Hendriksen, B Charbon, M de Haan, ... Database 2015, bav089, 2015 | 53 | 2015 |
| Evaluation of CADD scores in curated mismatch repair gene variants yields a model for clinical validation and prioritization KJ Van Der Velde, J Kuiper, BA Thompson, JP Plazzer, G van Valkenhoef, ... Human mutation 36 (7), 712-719, 2015 | 51 | 2015 |
| CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations S Li, KJ van der Velde, D De Ridder, ADJ Van Dijk, D Soudis, LR Zwerwer, ... Genome Medicine 12, 1-11, 2020 | 46 | 2020 |
| WormQTL—public archive and analysis web portal for natural variation data in Caenorhabditis spp LB Snoek, KJ Van der Velde, D Arends, Y Li, A Beyer, M Elvin, J Fisher, ... Nucleic acids research 41 (D1), D738-D743, 2012 | 43 | 2012 |
| BiobankConnect: software to rapidly connect data elements for pooled analysis across biobanks using ontological and lexical indexing C Pang, D Hendriksen, M Dijkstra, KJ van der Velde, J Kuiper, HL Hillege, ... Journal of the American Medical Informatics Association 22 (1), 65-75, 2015 | 41 | 2015 |
