Joris Veltman

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Joris Andre Veltman (* 1971 ) is a Dutch molecular and human geneticist. He is Professor of Translational Genetics in the Medical Faculty of Radboud University Nijmegen and in the Medical Faculty of Maastricht University .

In 2008 he became an assistant professor in the human genetics department at the Medical School in Nijmegen, was given a full professorship in 2013 and was also a professor in Maastricht in 2014.

In 2016 he and Han Brunner received the König Faisal Prize in Medicine for the development of Next Generation Sequencing and its application in clinical practice. They developed new microarray-based DNA analysis methods for the identification of disease-relevant genes, especially in hereditary diseases with intellectual disabilities (in this area he and his group researched the relationship between genotype and phenotype for a long time), but also, for example, in cyst liver (PCLD) , male sterility and congenital metabolic disorders.

Fonts

  • with HG Brunner: De novo mutations in human genetic disease, Nature Review Genetics, Volume 13, 2012, pp. 565-575, PMID 22805709
  • with HG Brunner and others: A de novo paradigm for mental retardation, Nature Genetics, Volume 42, 2010, pp. 1109-1112, Pubmed
  • with others: Genome sequencing identifies major causes of severe intellectual disability, Nature Letters 2014, Online
  • with others: Diagnostic exome sequencing in persons with severe intellectual disability, New England J. Med., Volume 367, 2012, pp. 1921-1929, PMID 23033978

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