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Maarten Kooyman

Researcher at Erasmus University Rotterdam

Publications -  20
Citations -  1750

Maarten Kooyman is an academic researcher from Erasmus University Rotterdam. The author has contributed to research in topics: Genome-wide association study & Gene. The author has an hindex of 14, co-authored 18 publications receiving 1277 citations. Previous affiliations of Maarten Kooyman include Netherlands Bioinformatics Centre.

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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Aude Nicolas, +435 more
- 21 Mar 2018 - 
TL;DR: Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia and Charcot-Marie-Tooth type 2.
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Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences

Richard Karlsson Linnér, +115 more
- 14 Jan 2019 - 
TL;DR: This paper found evidence of substantial shared genetic influences across risk tolerance and the risky behaviors: 46 of the 99 general risk tolerance loci contain a lead SNP for at least one of their other GWAS, and general risk-tolerance is genetically correlated with a range of risky behaviors.
Journal ArticleDOI

Detection of long repeat expansions from PCR-free whole-genome sequence data.

TL;DR: A software tool called ExpansionHunter is developed that, using PCR-free WGS short-read data, can genotype repeats at the locus of interest, even if the expanded repeat is larger than the read length, and provides researchers with a tool that can be used to identify new pathogenic repeat expansions.

Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences

Richard Karlsson Linnér, +387 more
TL;DR: A genetic study identifies hundreds of loci associated with risk tolerance and risky behaviors, finds evidence of substantial shared genetic influences across these phenotypes, and implicates genes involved in neurotransmission.