Boerkoel, Cornelius F.

Top Publications

Top Publications Authored or Co-Authored by "Boerkoel, Cornelius F."

• Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

  Nature Genetics, Volume 32, No. 2, Year 2002, Citations 494
• Schimke immunoosseous dysplasia: Suggestions of genetic diversity

  Human Mutation, Volume 28, No. 3, Year 2007, Citations 61
• Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

  Molecular Genetics and Metabolism, Volume 113, No. 3, Year 2014, Citations 54
• Spinocerebellar ataxia with axonal neuropathy: Consequence of a Tdp1 recessive neomorphic mutation?

  EMBO Journal, Volume 26, No. 22, Year 2007, Citations 35
• Schimke immunoosseous dysplasia: Defining skeletal features

  European Journal of Pediatrics, Volume 169, No. 7, Year 2010, Citations 30