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

por Young, Su Ling, Stanton, Chloe M., Livesey, Benjamin J., Marsh, Joseph A., Cackett, Peter D.
Publicado 2022

A mouse model of brittle cornea syndrome caused by mutation in Zfp469

por Stanton, Chloe M., Findlay, Amy S., Drake, Camilla, Mustafa, Mohammad Z., Gautier, Philippe, McKie, Lisa, Jackson, Ian J., Vitart, Veronique
Publicado 2021

Editing independent effects of ADARs on the miRNA/siRNA pathways

por Heale, Bret S E, Keegan, Liam P, McGurk, Leeanne, Michlewski, Gracjan, Brindle, James, Stanton, Chloe M, Caceres, Javier F, O'Connell, Mary A
Publicado 2009

Genetic variation in complement regulators and susceptibility to age-related macular degeneration

por Cipriani, Valentina, Matharu, Baljinder K., Khan, Jane C., Shahid, Humma, Stanton, Chloe M., Hayward, Caroline, Wright, Alan F., Bunce, Catey, Clayton, David G., Moore, Anthony T., Yates, John R.W.
Publicado 2012

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

por Stanton, Chloe M., Borooah, Shyamanga, Drake, Camilla, Marsh, Joseph A., Campbell, Susan, Lennon, Alan, Soares, Dinesh C., Vallabh, Neeru A., Sahni, Jayashree, Cideciyan, Artur V., Dhillon, Baljean, Vitart, Veronique, Jacobson, Samuel G., Wright, Alan F., Hayward, Caroline
Publicado 2017

Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration

por Ansari, Morad, Mckeigue, Paul M., Skerka, Christine, Hayward, Caroline, Rudan, Igor, Vitart, Veronique, Polasek, Ozren, Armbrecht, Ana-Maria, Yates, John R.W., Vatavuk, Zoran, Bencic, Goran, Kolcic, Ivana, Oostra, Ben A., Van Duijn, Cornelia M., Campbell, Susan, Stanton, Chloe M., Huffman, Jennifer, Shu, Xinhua, Khan, Jane C., Shahid, Humma, Harding, Simon P., Bishop, Paul N., Deary, Ian J., Moore, Anthony T., Dhillon, Baljean, Rudan, Pavao, Zipfel, Peter F., Sim, Robert B., Hastie, Nicholas D., Campbell, Harry, Wright, Alan F.
Publicado 2013

Concordant Association of Insulin Degrading Enzyme Gene (IDE) Variants with IDE mRNA, Aß, and Alzheimer's Disease

por Carrasquillo, Minerva M., Belbin, Olivia, Zou, Fanggeng, Allen, Mariet, Ertekin-Taner, Nilufer, Ansari, Morad, Wilcox, Samantha L., Kashino, Mariah R., Ma, Li, Younkin, Linda H., Younkin, Samuel G., Younkin, Curtis S., Dincman, Toros A., Howard, Melissa E., Howell, Chanley C., Stanton, Chloe M., Watson, Christopher M., Crump, Michael, Vitart, Veronique, Hayward, Caroline, Hastie, Nicholas D., Rudan, Igor, Campbell, Harry, Polasek, Ozren, Brown, Kristelle, Passmore, Peter, Craig, David, McGuinness, Bernadette, Todd, Stephen, Kehoe, Patrick G., Mann, David M., Smith, A. David, Beaumont, Helen, Warden, Donald, Holmes, Clive, Heun, Reinhard, Kölsch, Heike, Kalsheker, Noor, Pankratz, V. Shane, Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., Wright, Alan F., Younkin, Steven G., Morgan, Kevin
Publicado 2010

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

por Klarić, Lucija, Tsepilov, Yakov A., Stanton, Chloe M., Mangino, Massimo, Sikka, Timo Tõnis, Esko, Tõnu, Pakhomov, Eugene, Salo, Perttu, Deelen, Joris, McGurnaghan, Stuart J., Keser, Toma, Vučković, Frano, Ugrina, Ivo, Krištić, Jasminka, Gudelj, Ivan, Štambuk, Jerko, Plomp, Rosina, Pučić-Baković, Maja, Pavić, Tamara, Vilaj, Marija, Trbojević-Akmačić, Irena, Drake, Camilla, Dobrinić, Paula, Mlinarec, Jelena, Jelušić, Barbara, Richmond, Anne, Timofeeva, Maria, Grishchenko, Alexander K., Dmitrieva, Julia, Bermingham, Mairead L., Sharapov, Sodbo Zh., Farrington, Susan M., Theodoratou, Evropi, Uh, Hae-Won, Beekman, Marian, Slagboom, Eline P., Louis, Edouard, Georges, Michel, Wuhrer, Manfred, Colhoun, Helen M., Dunlop, Malcolm G., Perola, Markus, Fischer, Krista, Polasek, Ozren, Campbell, Harry, Rudan, Igor, Wilson, James F., Zoldoš, Vlatka, Vitart, Veronique, Spector, Tim, Aulchenko, Yurii S., Lauc, Gordan, Hayward, Caroline
Publicado 2020

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

por Fritsche, Lars G., Igl, Wilmar, Cooke Bailey, Jessica N., Grassmann, Felix, Sengupta, Sebanti, Bragg-Gresham, Jennifer L., Burdon, Kathryn P., Hebbring, Scott J., Wen, Cindy, Gorski, Mathias, Kim, Ivana K., Cho, David, Zack, Donald, Souied, Eric, Scholl, Hendrik P. N., Bala, Elisa, Lee, Kristine E., Hunter, David J., Sardell, Rebecca J., Mitchell, Paul, Merriam, Joanna E., Cipriani, Valentina, Hoffman, Joshua D., Schick, Tina, Lechanteur, Yara T. E., Guymer, Robyn H., Johnson, Matthew P., Jiang, Yingda, Stanton, Chloe M., Buitendijk, Gabriëlle H. S., Zhan, Xiaowei, Kwong, Alan M., Boleda, Alexis, Brooks, Matthew, Gieser, Linn, Ratnapriya, Rinki, Branham, Kari E., Foerster, Johanna R., Heckenlively, John R., Othman, Mohammad I., Vote, Brendan J., Liang, Helena Hai, Souzeau, Emmanuelle, McAllister, Ian L., Isaacs, Timothy, Hall, Janette, Lake, Stewart, Mackey, David A., Constable, Ian J., Craig, Jamie E., Kitchner, Terrie E., Yang, Zhenglin, Su, Zhiguang, Luo, Hongrong, Chen, Daniel, Ouyang, Hong, Flagg, Ken, Lin, Danni, Mao, Guanping, Ferreyra, Henry, Stark, Klaus, von Strachwitz, Claudia N., Wolf, Armin, Brandl, Caroline, Rudolph, Guenther, Olden, Matthias, Morrison, Margaux A., Morgan, Denise J., Schu, Matthew, Ahn, Jeeyun, Silvestri, Giuliana, Tsironi, Evangelia E., Park, Kyu Hyung, Farrer, Lindsay A., Orlin, Anton, Brucker, Alexander, Li, Mingyao, Curcio, Christine, Mohand-Saïd, Saddek, Sahel, José-Alain, Audo, Isabelle, Benchaboune, Mustapha, Cree, Angela J., Rennie, Christina A., Goverdhan, Srinivas V., Grunin, Michelle, Hagbi-Levi, Shira, Campochiaro, Peter, Katsanis, Nicholas, Holz, Frank G., Blond, Frédéric, Blanché, Hélène, Deleuze, Jean-François, Igo, Robert P., Truitt, Barbara, Peachey, Neal S., Meuer, Stacy M., Myers, Chelsea E., Moore, Emily L., Klein, Ronald, Hauser, Michael A., Postel, Eric A., Courtenay, Monique D., Schwartz, Stephen G., Kovach, Jaclyn L., Scott, William K., Liew, Gerald, Tƒan, Ava G., Gopinath, Bamini, Merriam, John C., Smith, R. Theodore, Khan, Jane C., Shahid, Humma, Moore, Anthony T., McGrath, J. Allie, Laux, Reneé, Brantley, Milam A., Agarwal, Anita, Ersoy, Lebriz, Caramoy, Albert, Langmann, Thomas, Saksens, Nicole T. M., de Jong, Eiko K., Hoyng, Carel B., Cain, Melinda S., Richardson, Andrea J., Martin, Tammy M., Blangero, John, Weeks, Daniel E., Dhillon, Bal, van Duijn, Cornelia M., Doheny, Kimberly F., Romm, Jane, Klaver, Caroline C. W., Hayward, Caroline, Gorin, Michael B., Klein, Michael L., Baird, Paul N., den Hollander, Anneke I., Fauser, Sascha, Yates, John R. W., Allikmets, Rando, Wang, Jie Jin, Schaumberg, Debra A., Klein, Barbara E. K., Hagstrom, Stephanie A., Chowers, Itay, Lotery, Andrew J., Léveillard, Thierry, Zhang, Kang, Brilliant, Murray H., Hewitt, Alex W., Swaroop, Anand, Chew, Emily Y., Pericak-Vance, Margaret A., DeAngelis, Margaret, Stambolian, Dwight, Haines, Jonathan L., Iyengar, Sudha K., Weber, Bernhard H. F., Abecasis, Gonçalo R., Heid, Iris M.
Publicado 2015