Chloe Stanton

2023

Treatment Strategy with Gene Editing for Late-onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5

Li, R. T. H., Roman, A. J., Sumaroka, A., Stanton, C., Swider, M., Garafalo, A. V., Héon, E., Vincent, A., Wright, A. F., Megaw, R., Aleman, T. S., Browning, A. C., Dhillon, B. & Cideciyan, A. V., 1 Dec 2023, In: Investigative Ophthalmology & Visual Science (IOVS).

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2022

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report

Young, S. L., Stanton, C. M., Livesey, B. J., Marsh, J. A. & Cackett, P. D., 26 Mar 2022, In: BMC Ophthalmology. 22, 1, 140.

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2021

A Mouse Model of Brittle Cornea Syndrome caused by mutation in Zfp469

Stanton, C., Findlay, A., Drake, C., Mustafa, Z., Gautier, P., McKie, L., Jackson, I. J. & Vitart, V., 22 Sept 2021, In: Disease Models and Mechanisms.

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2020

Glycosylation of immunoglobulin G is regulated by a large network of genes pleiotropic with inflammatory diseases

Klaric, L., Tsepilov, Y. A., Stanton, C. M., Mangino, M., Sikka, T. T., Esko, T., Pakhomov, E., Salo, P., Deelen, J., McGurnaghan, S. J., Keser, T., Vučković, F., Ugrina, I., Krištić, J., Gudelj, I., Štambuk, J., Plomp, R., Pučić-Baković, M., Pavić, T., Vilaj, M., & 34 othersTrbojević Akmačić, I., Drake, C., Dobrinić, P., Timofeeva, M., Mlinarec, J., Jelušić, B., Richmond, A., Timofeeva, M., Grishchenko, A. K., Dmitrieva, J., Bermingham, M. L., Sharapov, S. Z., Farrington, S., Theodoratou, E., Uh, H-W., Beekman, M., Slagboom, E. P., Louis, E., Georges, M., Wuhrer, M., Colhoun, H. M., Dunlop, M. G., Perola, M., Fischer, K., Polasek, O., Campbell, H., Rudan, I., Wilson, J. F., Zoldos, V., Vitart, V., Spector, T., Aulchenko, Y. S., Lauc, G. & Hayward, C., 19 Feb 2020, In: Science Advances. 6, 8, eaax0301.

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A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration

International AMD Genomics Consortium (IAMDGC), 31 Jan 2020, In: Scientific Reports. 10, 1, 1584.

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

2019

Late-onset retinal degeneration pathology de to mutations in CTRP5 is mediated through HTRA1

Chekuri, A., Zientara-Rytter, K., Soto-Hermida, A., Borooah, S., Voronchikhina, M., Biswas, P., Kumar, V., Goodsell, D., Hayward, C., Shaw, P., Stanton, C., Garland, D., Subramani, S. & Ayyagari, R., Dec 2019, In: Aging Cell. 18, 6, e13011.

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2018

Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration

Borooah, S., Stanton, C. M., Marsh, J., Carss, K. J., Waseem, N., Biswas, P., Agorogiannis, G., Raymond, L., Arno, G. & Webster, A. R., Dec 2018, In: Ophthalmic genetics. 39, 6, p. 763-770 8 p.

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Open Access

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2017

Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration

Stanton, C. M., Borooah, S., Drake, C., Marsh, J. A., Campbell, S., Lennon, A., Soares, D. C., Vallabh, N. A., Sahni, J., Cideciyan, A. V., Dhillon, B., Vitart, V., Jacobson, S. G., Wright, A. F. & Hayward, C., 22 Sept 2017, In: Scientific Reports. 7, 1, p. 12147

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Open Access

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2016

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., Kim, I. K., Cho, D., Zack, D., Souied, E., Scholl, H. P. N., Bala, E., Lee, K. E., Hunter, D. J., Sardell, R. J., Mitchell, P., & 142 othersMerriam, J. E., Cipriani, V., Hoffman, J. D., Schick, T., Lechanteur, Y. T. E., Guymer, R. H., Johnson, M. P., Jiang, Y., Stanton, C. M., Buitendijk, G. H. S., Zhan, X., Kwong, A. M., Boleda, A., Brooks, M., Gieser, L., Ratnapriya, R., Branham, K. E., Foerster, J. R., Heckenlively, J. R., Othman, M. I., Vote, B. J., Liang, H. H., Souzeau, E., McAllister, I. L., Isaacs, T., Hall, J., Lake, S., Mackey, D. A., Constable, I. J., Craig, J. E., Kitchner, T. E., Yang, Z., Su, Z., Luo, H., Chen, D., Ouyang, H., Flagg, K., Lin, D., Mao, G., Ferreyra, H., Stark, K., von Strachwitz, C. N., Wolf, A., Brandl, C., Rudolph, G., Olden, M., Morrison, M. A., Morgan, D. J., Schu, M., Ahn, J., Silvestri, G., Tsironi, E. E., Park, K. H., Farrer, L. A., Orlin, A., Brucker, A., Li, M., A Curcio, C., Mohand-Saïd, S., Sahel, J-A., Audo, I., Benchaboune, M., Cree, A. J., Rennie, C. A., Goverdhan, S. V., Grunin, M., Hagbi-Levi, S., Campochiaro, P., Katsanis, N., Holz, F. G., Blond, F., Blanché, H., Deleuze, J-F., Igo Jr, R. P., Truitt, B., Peachey, N. S., Meuer, S. M., Myers, C. E., Moore, E. L., Klein, R., Hauser, M. A., Postel, E. A., Courtenay, M. D., Schwartz, S. G., Kovach, J. L., Scott, W. K., Liew, G., Tan, A. G., Gopinath, B., Merriam, J. C., Smith, R. T., Khan, J. C., Shahid, H., Moore, A. T., McGrath, J. A., Laux, R., Brantley, M. A., Agarwal, A., Ersoy, L., Caramoy, A., Langmann, T., Saksens, N. T. M., de Jong, E. K., Hoyng, C. B., Cain, M. S., Richardson, A. J., Martin, T. M., Blangero, J., Weeks, D. E., Dhillon, B., van Duijn, C. M., Doheny, K. F., Romm, J., Klaver, C. C. W., Hayward, C., Gorin, M. B., Klein, M. L., Baird, P. N., den Hollander, A. I., Fauser, S., Yates, J. R. W., Allikmets, R., Wang, J. J., Schaumberg, D. A., Klein, B. E. K., Hagstrom, S. A., Chowers, I., Lotery, A. J., Léveillard, T., Zhang, K., Brilliant, M. H., Hewitt, A. W., Swaroop, A., Chew, E. Y., Pericak-Vance, M. A., DeAngelis, M., Stambolian, D., Haines, J. L., Iyengar, S. K., Weber, B. H. F., Abecasis, G. R. & Heid, I. M., Feb 2016, In: Nature Genetics. 48, 2, p. 134-143 10 p.

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Chloe Stanton

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