Chandler, Kate E.

Top Publications

Top Publications Authored or Co-Authored by "Chandler, Kate E."

• 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
• Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

  American Journal of Human Genetics, Volume 97, No. 4, Year 2015, Citations 101
• Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

  American Journal of Medical Genetics, Part A, Volume 152 A, No. 10, Year 2010, Citations 72
• Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: A case-control study

  The Lancet Neurology, Volume 12, No. 12, Year 2013, Citations 56
• Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.

  Journal of molecular endocrinology, Volume 49, No. 3, Year 2012, Citations 47