Dr Michael Nafisinia

Research Fellow
Children's Hospital Westmead /


Map

Keywords

Genetics; Genetic processes; Genetic diseases; Bioinformatics

Clinical Specialty

Genetic Medicine

Selected publications

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Journals

  • Nafisinia, M., Riley, L., Gold, W., Bhattacharya, K., Broderick, C., Thorburn, D., Simons, C., Christodoulou, J. (2017). Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction. PloS One, 12(6), 1-12. [More Information]
  • Nafisinia, M., Sobreira, N., Riley, L., Gold, W., Uhlenberg, B., Weib, C., Boehm, C., Prelog, K., Ouvrier, R., Christodoulou, J. (2017). Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease. European Journal of Human Genetics, 25(10), 1134-1141. [More Information]
  • Nafisinia, M., Guo, Y., Dang, X., Li, J., Chen, Y., Zhang, J., Lake, N., Gold, W., Riley, L., Thornburn, D., Christodoulou, J., et al (2017). Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder. JIMD Reports, 32, 117-124. [More Information]
  • Wolff, J., Nafisinia, M., Sutovsky, P., Ballard, J. (2013). Paternal transmission of mitochondrial DNA as an integral part of mitochondrial inheritance in metapopulations of Drosophila simulans. Heredity, 110(1), 57-62. [More Information]

2017

  • Nafisinia, M., Riley, L., Gold, W., Bhattacharya, K., Broderick, C., Thorburn, D., Simons, C., Christodoulou, J. (2017). Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction. PloS One, 12(6), 1-12. [More Information]
  • Nafisinia, M., Sobreira, N., Riley, L., Gold, W., Uhlenberg, B., Weib, C., Boehm, C., Prelog, K., Ouvrier, R., Christodoulou, J. (2017). Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease. European Journal of Human Genetics, 25(10), 1134-1141. [More Information]
  • Nafisinia, M., Guo, Y., Dang, X., Li, J., Chen, Y., Zhang, J., Lake, N., Gold, W., Riley, L., Thornburn, D., Christodoulou, J., et al (2017). Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder. JIMD Reports, 32, 117-124. [More Information]

2013

  • Wolff, J., Nafisinia, M., Sutovsky, P., Ballard, J. (2013). Paternal transmission of mitochondrial DNA as an integral part of mitochondrial inheritance in metapopulations of Drosophila simulans. Heredity, 110(1), 57-62. [More Information]

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