van der Knaap, Marjo S.

Top Publications

Top Publications Authored or Co-Authored by "van der Knaap, Marjo S."

• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

  American Journal of Medical Genetics, Part A, Volume 167, No. 2, Year 2015, Citations 449
• Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

  Nature Genetics, Volume 44, No. 3, Year 2012, Citations 246
• Tyrosine hydroxylase deficiency: A treatable disorder of brain catecholamine biosynthesis

  Brain, Volume 133, No. 6, Year 2010, Citations 196
• Phenotype and genotype in 101 males with x-linked creatine transporter deficiency

  Journal of Medical Genetics, Volume 50, No. 7, Year 2013, Citations 121
• Cerebroretinal Microangiopathy with Calcifications and Cysts (CRMCC)

  American Journal of Medical Genetics, Part A, Volume 146, No. 2, Year 2008, Citations 99