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Rick A. A. van der Spek

Utrecht University · NL
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Area of research
Neurology · Genetics
Research interest
Research focused on Amyotrophic lateral sclerosis and Genome-wide association study, with related work in Genetic architecture, C9orf72, Genetics. Notable publications include 'Genome-wide Analyses Identify KIF5A as a Novel ALS Gene', 'Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis', and 'Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology'.
h-index
citations
2,763
works
16
NIH funding
primary concept
email

Recent publications

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis
npj Genomic Medicine 2022cited by 43position: middledoi
Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS
Nature Neuroscience 2022cited by 40position: middledoi
Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data
Frontiers in Cellular Neuroscience 2022cited by 9position: middledoi
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Nature Genetics 2022cited by 4position: middledoi
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Nature Genetics 2021cited by 538position: middledoi
Associations between lifestyle and amyotrophic lateral sclerosis stratified by C9orf72 genotype: a longitudinal, population-based, case-control study
The Lancet Neurology 2021cited by 52position: middledoi
The Effect of <scp><i>SMN</i></scp> Gene Dosage on <scp>ALS</scp> Risk and Disease Severity
Annals of Neurology 2021cited by 15position: middledoi
Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors
Nature Genetics 2020cited by 340position: middledoi
The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 2019cited by 92position: firstdoi
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
Neuron 2018cited by 715position: middledoi
Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort
Neurobiology of Aging 2018cited by 37position: middledoi
Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene
SSRN Electronic Journal 2018cited by 32position: middledoi
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses
Journal of Medical Genetics 2018cited by 30position: middledoi
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia
Nature Communications 2017cited by 155position: middledoi
Reconsidering the causality of TIA1 mutations in ALS
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 2017cited by 37position: firstdoi
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
Nature Genetics 2016cited by 624position: middledoi

Grants

No grants ingested yet.

Frequent collaborators

Jan H. Veldink · University Medical Center Utrecht2 papers (2019–2021)Wouter van Rheenen · Utrecht University2 papers (2019–2021)Kevin van Veenhuijzen · Utrecht University1 papers (2021–2021)Anne E Visser · Utrecht University1 papers (2021–2021)William Sproviero · University of Oxford1 papers (2018–2018) · 1 papers (2018–2018) · 1 papers (2018–2018) · 1 papers (2018–2018)David McCormick · St Thomas' Hospital1 papers (2018–2018)Kevin P. Kenna · Utrecht University1 papers (2019–2019)Elaine Hughes · Evelina London Children's Healthcare1 papers (2018–2018)Susan Peters · National Institute of Occupational Health1 papers (2021–2021)Stephen Newhouse · University College London1 papers (2018–2018)Sanjeev V. Thomas · Stoke-on-Trent City Council1 papers (2018–2018)Henk‐Jan Westeneng · Utrecht University1 papers (2021–2021) · 1 papers (2018–2018)Cigdem I. Akman · Columbia University1 papers (2018–2018)Laura Addis · Age UK1 papers (2018–2018) · 1 papers (2018–2018)Deb K. Pal · King's College London1 papers (2018–2018)
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