de Brouwer, Arjan P.M.

Top Publications

Top Publications Authored or Co-Authored by "de Brouwer, Arjan P.M."

• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

  Nature Genetics, Volume 41, No. 5, Year 2009, Citations 599
• SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

  Cell, Volume 142, No. 2, Year 2010, Citations 256
• Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia

  American Journal of Human Genetics, Volume 91, No. 6, Year 2012, Citations 143
• TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

  Nature Genetics, Volume 46, No. 5, Year 2014, Citations 129
• Phenotype and genotype in 101 males with x-linked creatine transporter deficiency

  Journal of Medical Genetics, Volume 50, No. 7, Year 2013, Citations 121