Farrar, Michelle A.

Thrombotic microangiopathy following onasemnogene abeparvovec for spinal muscular atrophy: a case series

Chand, D. H., Zaidman, C., Arya, K., Millner, R., Farrar, M. A., Mackie, F. E., Goedeker, N. L., Dharnidharka, V. R., Dandamudi, R., & Reyna, S. P. (2021) · The Journal of Pediatrics

Complement system in diseasesNeurogenetic and Muscular Disorders Research

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Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Gupta, V. A., Ravenscroft, G., Shaheen, R., Todd, E. J., Swanson, L. C., Shiina, M., Ogata, K., Hsu, C., Clarke, N. F., Darras, B. T., et al. (2013) · The American Journal of Human Genetics

Muscle Physiology and DisordersGenomics and Rare Diseases

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Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

Palmer, E. E., Schofield, D., Shrestha, R., Kandula, T., Macintosh, R., Lawson, J. A., Andrews, I., Sampaio, H., Johnson, A. M., Farrar, M. A., et al. (2018) · Molecular Genetics & Genomic Medicine

Genomics and Rare DiseasesEpilepsy research and treatment

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