Joke J.F.A. van Vugt

Employment

• University Medical Center Utrecht Senior Scientist
  2015 - Present
• NIOO-KNAW Postdoc
  2011 - 2014
• NCMLS Postdoc
  2009 - 2011
• Universiteit Leiden Postdoc
  2008 - 2009
• NCMLS Postdoc
  2005 - 2008

Education

• Wageningen Universiteit en Researchcentrum PhD
  2000 - 2005

Projects & Funding

Projects & funding information is unavailable.

Publications (33)

• The impact of age on genetic testing decisions in amyotrophic lateral sclerosis
  Puja R. Mehta, Alfredo Iacoangeli, Sarah Opie-Martin

  +31 more

  • Joke J.F.A. van Vugt
  • Ahmad Al Khleifat
  • Andrea Bredin
  • Lynn Ossher
  • Peter Munch Andersen
  • +26 more
  Brain 2022 DOI: 10.1093/brain/awac279
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• Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
  Science Translational Medicine 2022 DOI: 10.1126/scitranslmed.abj0264
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• The Effect of SMN Gene Dosage on ALS Risk and Disease Severity
  Matthieu Moisse, Ramona A.J. Zwamborn, Joke J.F.A. van Vugt +33 more
  Annals of Neurology 2021 DOI: 10.1002/ana.26009
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• Genome-wide study of DNA methylation in Amyotrophic Lateral Sclerosis identifies differentially methylated loci and implicates metabolic, inflammatory and cholesterol pathways
  2021 DOI: 10.1101/2021.03.12.21253115
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• Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
  2021 DOI: 10.1101/2021.03.12.21253159
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• Chromosomal resolution reveals symbiotic virus colonization of parasitic wasp genomes
  2020 DOI: 10.1101/2020.03.19.994459
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• ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data
  2019 DOI: 10.1101/863035
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• ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.
  Bioinformatics (Oxford, England) 2019 DOI: 10.1093/bioinformatics/btz431
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• Pharmacogenetic interactions in amyotrophic lateral sclerosis: a step closer to a cure?
  The pharmacogenomics journal 2019 DOI: 10.1038/s41397-019-0111-3
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• Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
  The New England journal of medicine 2019 DOI: 10.1056/nejmoa1806627
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• ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions
  2019 DOI: 10.1101/572545
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• Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort.
  Neurobiology of aging 2018 DOI: 10.1016/j.neurobiolaging.2018.09.012
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• The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
  2018 DOI: 10.1101/377911
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• Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis.
  European journal of human genetics : EJHG 2018 DOI: 10.1038/s41431-018-0177-4
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• Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
  Neuron 2018 DOI: 10.1016/j.neuron.2018.02.027
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• Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model.
  The Lancet. Neurology 2018 DOI: 10.1016/s1474-4422(18)30089-9
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• Reconsidering the causality of TIA1 mutations in ALS.
  Amyotrophic lateral sclerosis & frontotemporal degeneration 2017 DOI: 10.1080/21678421.2017.1413118
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• Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype.
  Frontiers in molecular neuroscience 2017 DOI: 10.3389/fnmol.2017.00370
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• Detection of long repeat expansions from PCR-free whole-genome sequence data.
  Genome research 2017 DOI: 10.1101/gr.225672.117
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• Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis
  2017 DOI: 10.1101/152553
  +Save