Holger Prokisch

Research interests

Publications

• Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

  Nature Genetics · 2021 · https://doi.org/10.1038/s41588-021-00913-z

• Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour

  Nature Human Behaviour · 2021 · https://doi.org/10.1038/s41562-021-01135-3

• Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

  Nature Communications · 2019 · https://doi.org/10.1038/s41467-019-10936-0

• Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood

  Nature Communications · 2018 · https://doi.org/10.1038/s41467-018-04558-1

• Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis

  bioRxiv (Cold Spring Harbor Laboratory) · 2018 · https://doi.org/10.1101/447367

• Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes

  Nature Communications · 2018 · https://doi.org/10.1038/s41467-018-04951-w

• Genetic diagnosis of Mendelian disorders via RNA sequencing

  Nature Communications · 2017 · https://doi.org/10.1038/ncomms15824

• Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

  Nature Communications · 2016 · https://doi.org/10.1038/ncomms12039

• ACSL4 dictates ferroptosis sensitivity by shaping cellular lipid composition

  Nature Chemical Biology · 2016 · https://doi.org/10.1038/nchembio.2239

• A DNA methylation biomarker of alcohol consumption

  Molecular Psychiatry · 2016 · https://doi.org/10.1038/mp.2016.192

• Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

  Nature Communications · 2016 · https://doi.org/10.1038/ncomms11601

• Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity

  Nature · 2016 · https://doi.org/10.1038/nature20784

• DNA Methylation of Lipid-Related Genes Affects Blood Lipid Levels

  Circulation Cardiovascular Genetics · 2015 · https://doi.org/10.1161/circgenetics.114.000804

• Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

  Acta Neuropathologica · 2014 · https://doi.org/10.1007/s00401-014-1298-7

• Systematic identification of trans eQTLs as putative drivers of known disease associations

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2756

• Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

  Brain · 2013 · https://doi.org/10.1093/brain/awt095

• Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

  The American Journal of Human Genetics · 2013 · https://doi.org/10.1016/j.ajhg.2013.11.008

• Novel biomarkers for pre‐diabetes identified by metabolomics

  Molecular Systems Biology · 2012 · https://doi.org/10.1038/msb.2012.43

• Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

  The American Journal of Human Genetics · 2012 · https://doi.org/10.1016/j.ajhg.2012.10.019

• Differences between Human Plasma and Serum Metabolite Profiles

  PLoS ONE · 2011 · https://doi.org/10.1371/journal.pone.0021230

• Meta-Analysis of 28,141 Individuals Identifies Common Variants within Five New Loci That Influence Uric Acid Concentrations

  PLoS Genetics · 2009 · https://doi.org/10.1371/journal.pgen.1000504

• SLC2A9 influences uric acid concentrations with pronounced sex-specific effects

  Nature Genetics · 2008 · https://doi.org/10.1038/ng.107

• The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

  Brain · 2007 · https://doi.org/10.1093/brain/awm054

Current projects

No projects listed.