Retinal pigment epithelial detachments and tears, and progressive retinal degeneration in light chain deposition disease

por Spielberg, Leigh H, Heckenlively, John R, Leys, Anita M
Publicado 2013

Two mouse models for recoverin-associated autoimmune retinopathy

por Lu, Ying, He, Shirley, Jia, Lin, Khan, Naheed W., Heckenlively, John R.
Publicado 2010

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa

por Bowne, Sara J., Sullivan, Lori. S., Gire, Anisa I., Birch, David G., Hughbanks-Wheaton, Dianna, Heckenlively, John R., Daiger, Stephen P.
Publicado 2008

T Helper 1 Cellular Immunity Toward Recoverin Is Enhanced in Patients With Active Autoimmune Retinopathy

por Lundy, Steven K., Nikoopour, Enayat, Karoukis, Athanasios J., Ohara, Ray, Othman, Mohammad I., Tagett, Rebecca, Jayasundera, K. Thiran, Heckenlively, John R.
Publicado 2018

Rapid visual field constriction in a patient with retinitis pigmentosa and pituitary adenoma

por Al-Hasani, Hayder, Khan, Naheed W., Branham, Kari H., Heckenlively, John R., Sullivan, Stephen E., De Lott, Lindsey B., Fahim, Abigail T.
Publicado 2020

Correlation of Immunological Markers with Disease and Clinical Outcome Measures in Patients with Autoimmune Retinopathy

por Stanwyck, Lynn K., Chan, Weilin, Sood, Arjun, Susarla, Gayatri, Romano, John, Pefkianaki, Maria, Jayasundera, Kanishka Thiran, Heckenlively, John R., Lundy, Steven K., Sobrin, Lucia
Publicado 2020

Genetic modification of glaucoma associated phenotypes between AKXD-28/Ty and DBA/2J mice

por Anderson, Michael G, Smith, Richard S, Savinova, Olga V, Hawes, Norman L, Chang, Bo, Zabaleta, Adriana, Wilpan, Robert, Heckenlively, John R, Davisson, Muriel, John, Simon WM
Publicado 2001

Rd9 Is a Naturally Occurring Mouse Model of a Common Form of Retinitis Pigmentosa Caused by Mutations in RPGR-ORF15

por Thompson, Debra A., Khan, Naheed W., Othman, Mohammad I., Chang, Bo, Jia, Lin, Grahek, Garrett, Wu, Zhijian, Hiriyanna, Suja, Nellissery, Jacob, Li, Tiansen, Khanna, Hemant, Colosi, Peter, Swaroop, Anand, Heckenlively, John R.
Publicado 2012

Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa

por Bowne, Sara J., Sullivan, Lori S., Avery, Cheryl E., Sasser, Elizabeth M., Roorda, Austin, Duncan, Jacque L., Wheaton, Dianna H., Birch, David G., Branham, Kari E., Heckenlively, John R., Sieving, Paul A., Daiger, Stephen P.
Publicado 2013

Prospective Evaluation of Patients With X-Linked Retinoschisis During 18 Months

por Pennesi, Mark E., Birch, David G., Jayasundera, K. Thiran, Parker, Maria, Tan, Ou, Gurses-Ozden, Rabia, Reichley, Carrie, Beasley, Kathleen N., Yang, Paul, Weleber, Richard G., Bennett, Lea D., Heckenlively, John R., Kothapalli, Kalyani, Chulay, Jeffrey D.
Publicado 2018

A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

por Sullivan, Lori S., Bowne, Sara J., Koboldt, Daniel C., Cadena, Elizabeth L., Heckenlively, John R., Branham, Kari E., Wheaton, Dianna H., Jones, Kaylie D., Ruiz, Richard S., Pennesi, Mark E., Yang, Paul, Davis-Boozer, David, Northrup, Hope, Gurevich, Vsevold V., Chen, Rui, Xu, Mingchu, Li, Yumei, Birch, David G., Daiger, Stephen P.
Publicado 2017

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

por Weisschuh, Nicole, Mayer, Anja K., Strom, Tim M., Kohl, Susanne, Glöckle, Nicola, Schubach, Max, Andreasson, Sten, Bernd, Antje, Birch, David G., Hamel, Christian P., Heckenlively, John R., Jacobson, Samuel G., Kamme, Christina, Kellner, Ulrich, Kunstmann, Erdmute, Maffei, Pietro, Reiff, Charlotte M., Rohrschneider, Klaus, Rosenberg, Thomas, Rudolph, Günther, Vámos, Rita, Varsányi, Balázs, Weleber, Richard G., Wissinger, Bernd
Publicado 2016

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

por Buena-Atienza, Elena, Rüther, Klaus, Baumann, Britta, Bergholz, Richard, Birch, David, De Baere, Elfride, Dollfus, Helene, Greally, Marie T., Gustavsson, Peter, Hamel, Christian P., Heckenlively, John R., Leroy, Bart P., Plomp, Astrid S., Pott, Jan Willem R., Rose, Katherine, Rosenberg, Thomas, Stark, Zornitza, Verheij, Joke B. G. M., Weleber, Richard, Zobor, Ditta, Weisschuh, Nicole, Kohl, Susanne, Wissinger, Bernd
Publicado 2016

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis

por Biswas, Pooja, Villanueva, Adda L., Soto-Hermida, Angel, Duncan, Jacque L., Matsui, Hiroko, Borooah, Shyamanga, Kurmanov, Berzhan, Richard, Gabriele, Khan, Shahid Y., Branham, Kari, Huang, Bonnie, Suk, John, Bakall, Benjamin, Goldberg, Jeffrey L., Gabriel, Luis, Khan, Naheed W., Raghavendra, Pongali B., Zhou, Jason, Devalaraja, Sindhu, Huynh, Andrew, Alapati, Akhila, Zawaydeh, Qais, Weleber, Richard G., Heckenlively, John R., Hejtmancik, J. Fielding, Riazuddin, Sheikh, Sieving, Paul A., Riazuddin, S. Amer, Frazer, Kelly A., Ayyagari, Radha
Publicado 2021

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

por Thompson, Debra A., Iannaccone, Alessandro, Ali, Robin R., Arshavsky, Vadim Y., Audo, Isabelle, Bainbridge, James W. B., Besirli, Cagri G., Birch, David G., Branham, Kari E., Cideciyan, Artur V., Daiger, Steven P., Dalkara, Deniz, Duncan, Jacque L., Fahim, Abigail T., Flannery, John G., Gattegna, Roberto, Heckenlively, John R., Heon, Elise, Jayasundera, K. Thiran, Khan, Naheed W., Klassen, Henry, Leroy, Bart P., Molday, Robert S., Musch, David C., Pennesi, Mark E., Petersen-Jones, Simon M., Pierce, Eric A., Rao, Rajesh C., Reh, Thomas A., Sahel, Jose A., Sharon, Dror, Sieving, Paul A., Strettoi, Enrica, Yang, Paul, Zacks, David N.
Publicado 2020

Identification of a Rare Coding Variant in Complement 3 Associated with Age-related Macular Degeneration

por Zhan, Xiaowei, Larson, David E., Wang, Chaolong, Koboldt, Daniel C., Sergeev, Yuri V., Fulton, Robert S., Fulton, Lucinda L., Fronick, Catrina C., Branham, Kari E., Bragg-Gresham, Jennifer, Jun, Goo, Hu, Youna, Kang, Hyun Min, Liu, Dajiang, Othman, Mohammad, Brooks, Matthew, Ratnapriya, Rinki, Boleda, Alexis, Grassmann, Felix, von Strachwitz, Claudia, Olson, Lana M., Buitendijk, Gabriëlle H.S., Hofman, Albert, van Duijn, Cornelia M., Cipriani, Valentina, Moore, Anthony T., Shahid, Humma, Jiang, Yingda, Conley, Yvette P., Morgan, Denise J., Kim, Ivana K., Johnson, Matthew P., Cantsilieris, Stuart, Richardson, Andrea J., Guymer, Robyn H., Luo, Hongrong, Ouyang, Hong, Licht, Christoph, Pluthero, Fred G., Zhang, Mindy M., Zhang, Kang, Baird, Paul N., Blangero, John, Klein, Michael L., Farrer, Lindsay A., DeAngelis, Margaret M., Weeks, Daniel E., Gorin, Michael B., Yates, John R.W., Klaver, Caroline C.W., Pericak-Vance, Margaret A., Haines, Jonathan L., Weber, Bernhard H.F., Wilson, Richard K., Heckenlively, John R., Chew, Emily Y., Stambolian, Dwight, Mardis, Elaine R., Swaroop, Anand, Abecasis, Goncalo R.
Publicado 2013

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