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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
Title
Cited by
Cited by
Year
Whole-genome sequence variation, population structure and demographic history of the Dutch population
Nature genetics 46 (8), 818-825, 2014
6442014
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), 1-4, 2014
1172014
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
1122010
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
1092014
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
992019
Rapid targeted genomics in critically ill newborns
CC Van Diemen, WS Kerstjens-Frederikse, KA Bergman, TJ De Koning, ...
Pediatrics 140 (4), 2017
852017
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
712013
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), 1-10, 2019
702019
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
662015
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
642010
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), 1-10, 2017
552017
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), 1-12, 2011
542011
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
522018
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
452015
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
442015
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
372012
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
322015
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
312015
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
262019
A framework for the detection of de novo mutations in family-based sequencing data
LC Francioli, M Cretu-Stancu, KV Garimella, M Fromer, WP Kloosterman, ...
European Journal of Human Genetics 25 (2), 227-233, 2017
262017
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