Andrea Robertson

2018

DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency

Logan, C., Murray, J., Parry, D., Robertson, A., Bellelli, R., Tarnauskaite, Z., Challis, R., Cleal, L., Borel, V., Fluteau, A., Santoyo-Lopez, J., SGP Consortium, Aitman, T., Barroso, I., Basel, D., Bicknell, L., Goel, H., Hu, H., Huff, C., Hutchison, M., & 26 othersJoyce, C., Knox, R., Langlois, S., McCandless, S., McCarrier, J., Morrissey, R., Murphy, N., Netchine, I., O'Connell, S. M., Olney, A. H., Paria, N., Rosenfeld, J. A., Sherlock, M., Syverson, E., White, P., Wise, C., Yu, Y., Zacharin, M., Banerjee, I., Reijns, M., Bober, M. B., Semple, R., Boulton, S. J., Rios, J. J., Jackson, A. & Robertson, A., 6 Dec 2018, In: American Journal of Human Genetics. 103, 6, p. 1038-1044

Research output: Contribution to journal › Article › peer-review

Open Access

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2006

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Crow, Y. J., Robertson (nee Leitch), A., Hayward, B. E., Garner, A., Parmar, R., Griffith, E., Ali, M., Semple, C., Aicardi, J., Babul-Hirji, R., Baumann, C., Baxter, P., Bertini, E., Chandler, K. E., Chitayat, D., Cau, D., Déry, C., Fazzi, E., Goizet, C., King, M. D., & 25 othersKlepper, J., Lacombe, D., Lanzi, G., Lyall, H., Martínez-Frías, M. L., Mathieu, M., McKeown, C., Monier, A., Oade, Y., Quarrell, O. W., Rittey, C. D., Rogers, R. C., Sanchis, A., Stephenson, J. B. P., Tacke, U., Till, M., Tolmie, J. L., Tomlin, P., Voit, T., Weschke, B., Woods, C. G., Lebon, P., Bonthron, D. T., Ponting, C. & Jackson, A. P., 2006, In: Nature Genetics. 38, 8, p. 910-6 7 p.

Research output: Contribution to journal › Article › peer-review

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Crow, Y. J., Hayward, B. E., Parmar, R., Robins, P., Robertson (nee Leitch), A., Ali, M., Black, D. N., van Bokhoven, H., Brunner, H. G., Hamel, B. C., Corry, P. C., Cowan, F. M., Frints, S. G., Klepper, J., Livingston, J. H., Lynch, S. A., Massey, R. F., Meritet, J. F., Michaud, J. L., Ponsot, G., & 6 othersVoit, T., Lebon, P., Bonthron, D. T., Jackson, A. P., Barnes, D. E. & Lindahl, T., 2006, In: Nature Genetics. 38, 8, p. 917-20 4 p.

Research output: Contribution to journal › Article › peer-review

Andrea Robertson

Research output

Search results

DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus