McKinnon, Margaret

Exome Sequencing and the Management of Neurometabolic Disorders

Tarailo-Graovac, M., Shyr, C., Ross, C. J., Horvath, G. A., Salvarinova, R., Ye, X. C., Zhang, L.-H., Bhavsar, A. P., Lee, J. J. Y., Drögemöller, B. I., et al. (2016) · New England Journal of Medicine

Metabolism and Genetic DisordersGenomics and Rare Diseases

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Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

Sharma, M., Leung, D., Momenilandi, M., Jones, L. C. W., Pacillo, L., James, A. E., Murrell, J. R., Delafontaine, S., Maimaris, J., Vaseghi-Shanjani, M., et al. (2023) · Journal of Experimental Medicine

Immunodeficiency and Autoimmune DisordersAsthma and respiratory diseases

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