Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing

Autor: Gillespie, Rachel L., O’Sullivan, James, Ashworth, Jane, Bhaskar, Sanjeev, Williams, Simon, Biswas, Susmito, Kehdi, Elias, Ramsden, Simon C., Clayton-Smith, Jill, Black, Graeme C., Lloyd, I. Christopher

Publikováno v: In Ophthalmology November 2014 121(11):2124-2137

Additional file 1 of Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia

Autor: Taylor, Rachel L., Soriano, Carla Sanjuro, Williams, Simon, Dzulova, Denisa, Ashworth, Jane, Hall, Georgina, Gale, Theodora, Lloyd, I. Christopher, Inglehearn, Chris F., Toomes, Carmel, Douzgou, Sofia, Black, Graeme C.

Additional file 1: Data 1. Candidate variants arising from whole exome sequencing analysis. Table details the variants resulting following filtering steps and details of how each variant was interpreted according to guidelines published by the Americ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47a78f96d3e575584d3f1b1640bcfcb6

Ocular motor outcomes after bilateral and unilateral infantile cataracts

Autor: Abadi, Richard V., Forster, Joanne E., Lloyd, I. Christopher

Publikováno v: In Vision Research 2006 46(6):940-952

List of Contributors

Autor: Adams, Gillian GW, Ali, Asim, Ali, Mohammad Javed, Ali, Nadeem, Almahmoudi, Faeeqah H, Aroichane, Maryam, Ashworth, Jane L, Avery, Robert A, Bartram, Jack, Beres, Shannon J, Bhat, Nita, Binenbaum, Gil, Biousse, Valérie, Birch, Eileen E, Biswas, Susmito, Black, Graeme CM, Black, Joanna Barham, Bowe, Theodore S, Bowman, Richard JC, Bradbury, John A, Bradfield, Yasmin, Brodsky, Michael C, Brosnahan, Donal, Camuglia, Jayne E, Carden, Susan Mary, Castano, Giovanni, Casteels, Ingele Katinka, Chang, Melinda Y, Chiang, Michael F, Chung, Yvonne HsiWei, Coats, David K, Crompton, John Lionel, de Alba Campomanes, Alejandra G, Debert, Iara, Demer, Joseph L, Dollfus, Helene, Dolman, Peter J, Donahue, Sean P, Edelsten, Clive, Erickson, Benjamin P, Ferreira de Sa, Luis Carlos, Flowers, Alexis M, Geloneck, Megan, Ghosh, Arko, Gilbert, Clare E, Giligson, Christy, Gole, Glen, Good, William V, Gottlob, Irene, Gregory-Evans, Cheryl Y, Gregory-Evans, Kevin, Grigg, John RB, Grossniklaus, Hans E, Halverson, Mark, Azzam, Shirin Hamed, Handler, Sheryl M, Handley, Sian E, Hanna, Nancy N, Hardy, Thomas G, Heidary, Gena, Hertle, Richard W, Hildebrand, Göran Darius, Holder, Graham E, Hoyt, Creig S, Hutchinson, Amy K, Hwang, Jeong-Min, Jamieson, Robyn V, Jensen, Hanne, Kekunnaya, Ramesh, Kelly, Krista R, Keunen, Jan EE, Khaw, Peng Tee, Kim, Chong Ae, Kim, Seung-Hyun, Kossler, Andrea Lora, Kushner, Burton J, Lambert, Scott R, Larkin, Daniel FP, LaRoche, G Robert, Lee, Andrew Go, Lenhart, Phoebe Dean, Liu, Grant T, Lloyd, I Christopher, Lyons, Christopher J, Marmoy, Oliver R, Martins, Alessandra, Matsuba, Carey A, McNab, Alan A, Mehta, Vaishali, Merabet, Lotfi B, Michaelides, Michel, Mireskandari, Kamiar, Moore, Anthony T, Morris, Andrew AM, Mulholland, Conor, Munier, Francis L, Murali, Sanjana, Newman, Nancy J, Nischal, Ken K, O'Connor, Anna R, Olitsky, Scott E, Ospina, Luis H, Oystreck, Darren T, Papadopoulos, Maria, Parulekar, Manoj V, Paysse, Evelyn A, Peragallo, Jason H, Pereira, Erika Mota, Philip, Swetha S, Pineles, Stacy, Prajna, Venkatesh, Proudlock, Frank Anthony, Quinn, Anthony G, Rahi, Jugnoo S, Repka, Michael X, Russell, Buddy, Sachdeva, Virender, Salchow, Daniel J, Sato, Miho, Schalij-Delfos, Nicoline E, Scruggs, Brittni A, Sears, Connie Martin, Self, Jay E, Sergouniotis, Panagiotis I, Shah, Ankoor S, Shields, Carol L, Shields, Jerry A, Silverstein, Evan, Slattery, James A, Smyth, Anna E, Snead, Martin P, Somner, John, Stathopoulos, Christina, Summers, C Gail, Tan, Kimberley, Thompson, Dorothy Ann, Tinley, Christopher, Tooke, Lloyd, Traboulsi, Elias I, Treacy, Maxwell P, Tuft, Stephen J, Uddin, Jimmy M, van Schooneveld, Mary J, Vijayalakshmi, Perumalsamy, Vivian, Anthony J, Walsh, Leah, Watts, Patrick, Weakley, David R, Wells, Jill Razor, Wood, Edward H

Publikováno v: In Taylor and Hoyt's Pediatric Ophthalmology and Strabismus Edition: Sixth Edition. 2023:xii-xviii

Congenital and pediatric cataract is not a diagnosis: important systemic disorders a pediatric ophthalmologist doesn't want to miss

Autor: Lloyd, I. Christopher, Ashworth, Jane L., Alcorn, Deborah M., Fredrick, Douglas

Publikováno v: In Journal of AAPOS August 2022 26(4):e67-e67