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
LC Francioli, A Menelaou, SL Pulit, F Van Dijk, PF Palamara, CC Elbers, ...
Nature genetics 46 (8), 818-825, 2014
5542014
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
1042010
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
1002014
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
832014
Rapid targeted genomics in critically ill newborns
CC Van Diemen, WS Kerstjens-Frederikse, KA Bergman, TJ De Koning, ...
Pediatrics 140 (4), 2017
642017
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
622013
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
612010
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
572019
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
572015
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), 1-12, 2011
532011
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
512019
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
422017
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
412015
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
402015
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
402012
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
362018
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
282014
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
272015
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
262015
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), 1-15, 2010
262010
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