K. Joeri van der Velde
K. Joeri van der Velde
University Medical Center Groningen, Dept. of Genetics, Genomics Coordination Center
Verified email at umcg.nl
Cited by
Cited by
Whole-genome sequence variation, population structure and demographic history of the Dutch population
LC Francioli, A Menelaou, SL Pulit, F Van Dijk, PF Palamara, CC Elbers, ...
Nature genetics 46 (8), 818, 2014
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
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 (12), 1-9, 2010
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), 901, 2014
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
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
Rapid targeted genomics in critically ill newborns
CC Van Diemen, WS Kerstjens-Frederikse, KA Bergman, TJ De Koning, ...
Pediatrics 140 (4), 2017
OntoCAT--simple ontology search and integration in Java, R and REST/JavaScript
T Adamusiak, T Burdett, N Kurbatova, KJ van der Velde, ...
BMC bioinformatics 12 (1), 218, 2011
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), 1-13, 2015
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), 1-6, 2015
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
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), 6, 2017
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
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), 1-13, 2019
WormQTLHD—a web database for linking human disease to natural variation data in C. elegans
KJ van der Velde, M de Haan, K Zych, D Arends, LB Snoek, ...
Nucleic acids research 42 (D1), D794-D801, 2014
XGAP: a uniform and extensible data model and software platform for genotype and phenotype experiments
MA Swertz, KJ van der Velde, BM Tesson, RA Scheltema, D Arends, ...
Genome biology 11 (3), R27, 2010
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
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
Observ‐OM and Observ‐TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information
T Adamusiak, H Parkinson, J Muilu, E Roos, KJ van der Velde, ...
Human mutation 33 (5), 867-873, 2012
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, 2015
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