Geraghty, Michael
University of Ottawa · Children's Hospital of Eastern Ontario
5 papers on CoChatORCID 0000-0002-3068-8577
Most cited papers
- Verified
Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome
Rowe, P. C., Barron, D. F., Calkins, H., Maumenee, I. H., Tong, P. Y., & Geraghty, M. T. (1999) · The Journal of Pediatrics
Cardiovascular Syncope and Autonomic DisordersFibromyalgia and Chronic Fatigue Syndrome Research
Cited by 230
- Verified
X-linked adrenoleukodystrophy: Genes, mutations, and phenotypes
Smith, K. D., Kemp, S., Braiterman, L. T., Lu, J.-F., Wei, H.-M., Geraghty, M., Stetten, G., Bergin, J. S., Pevsner, J., & Watkins, P. A. (1999) · Neurochemical Research
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 190
- Verified
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
Chakraborty, P. K., Schmitz-Abe, K., Kennedy, E. K., Mamady, H., Naas, T., Durie, D., Campagna, D. R., Lau, A., Sendamarai, A. K., Wiseman, D. H., et al. (2014) · Blood
Iron Metabolism and DisordersRNA and protein synthesis mechanisms
Cited by 190
- Verified
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
Lionel, A. C., Tammimies, K., Vaags, A. K., Rosenfeld, J. A., Ahn, J. W., Merico, D., Noor, A., Runke, C. K., Pillalamarri, V. K., Carter, M. T., et al. (2014) · Human Molecular Genetics
Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities
Cited by 163
- Verified
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring
Stockler-Ipsiroglu, S., van Karnebeek, C., Longo, N., Korenke, G. C., Mercimek-Mahmutoglu, S., Marquart, I., Barshop, B., Grolik, C., Schlune, A., Angle, B., et al. (2014) · Molecular Genetics and Metabolism
Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism
Cited by 145
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