Publications

Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by Whole-exome sequencing

Ellyard, J. I., Jerjen, R., Martin, J. L., Lee, A. Y., Field, M. A., Jiang, S. H., Cappello, J., Naumann, S. K., Andrews, T. D., Scott, H. S., Casarotto, M. G., Goodnow, C. C., Chaitow, J., Pascual, V., Hertzog, P., Alexander, S. I., Cook, M. C. & Vinuesa, C. G. 2014. Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by Whole-exome sequencing. Read more about Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by Whole-exome sequencing

Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100

Lee, C. E., Fulcher, D. A., Whittle, B., Chand, R., Fewings, N., Field, M., Andrews, D., Goodnow, C. C. & Cook, M. C. 2014. Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100. Blood, 124, 2964-72

PubMed  Article Read more about Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100