Disease Progression in Autosomal Dominant Cone-Rod Dystrophy Caused by a Novel Mutation (D100G) in the GUCA1A Gene

Por Nong, Eva, Lee, Winston, Merriam, Joanna E., Allikmets, Rando, Tsang, Stephen H.
Publicado em 2013

Complement Factor H 402H Variant and Reticular Macular Disease

Por Smith, R. Theodore, Merriam, Joanna E., Sohrab, Mahsa A., Pumariega, Nicole M., Barile, Gaetano, Blonska, Anna M., Haans, Raymond, Madigan, David, Allikmets, Rando
Publicado em 2011

Three Major Loci Involved in Age-Related Macular Degeneration are also Associated with Polypoidal Choroidal Vasculopathy

Por Lima, Luiz H., Schubert, Carl, Ferrara, Daniela C., Merriam, Joanna E., Imamura, Yutaka, Freund, K. Bailey, Spaide, Richard F., Yannuzzi, Lawrence A., Allikmets, Rando
Publicado em 2010

NEW BEST1 MUTATIONS IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY

Por FUNG, ADRIAN T., YZER, SUZANNE, GOLDBERG, NAOMI, WANG, HAO, NISSEN, MICHAEL, GIOVANNINI, ALFONSO, MERRIAM, JOANNA E., BUKANOVA, ELENA N., CAI, CAROLYN, YANNUZZI, LAWRENCE A., TSANG, STEPHEN H., ALLIKMETS, RANDO
Publicado no Retina (2015)

Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration

Por Gold, Bert, Merriam, Joanna E, Zernant, Jana, Hancox, Lisa S, Taiber, Andrew J, Gehrs, Karen, Cramer, Kevin, Neel, Julia, Bergeron, Julie, Barile, Gaetano R, Smith, R Theodore, Hageman, Gregory S, Dean, Michael, Allikmets, Rando
Publicado em 2006

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in a same family

Por Escher, Pascal, Gouras, Peter, Roduit, Raphaël, Tiab, Leila, Bolay, Sylvain, Delarive, Tania, Chen, Shiming, Tsai, Chih-Cheng, Hayashi, Masanori, Zernant, Jana, Merriam, Joanna E., Mermod, Nicolas, Allikmets, Rando, Munier, Francis L., Schorderet, Daniel F.
Publicado em 2009

Comprehensive Analysis of the Candidate Genes CCL2, CCR2, and TLR4 in Age-Related Macular Degeneration

Por Despriet, Dominiek D. G., Bergen, Arthur A. B., Merriam, Joanna E., Zernant, Jana, Barile, Gaetano R., Smith, R. Theodore, Barbazetto, Irene A., van Soest, Simone, Bakker, Arne, de Jong, Paulus T. V. M., Allikmets, Rando, Klaver, Caroline C. W.
Publicado em 2008

Analysis of candidate genes for macular telangiectasia type 2

Por Parmalee, Nancy L., Schubert, Carl, Merriam, Joanna E., Allikmets, Kaija, Bird, Alan C., Gillies, Mark C., Peto, Tunde, Figueroa, Maria, Friedlander, Martin, Fruttiger, Marcus, Greenwood, John, Moss, Stephen E., Smith, Lois E.H., Toomes, Carmel, Inglehearn, Chris F., Allikmets, Rando
Publicado em 2010

Cadherin 5 is Regulated by Corticosteroids and Associated with Central Serous Chorioretinopathy

Por Schubert, Carl, Pryds, Anders, Zeng, Shemin, Xie, Yajing, Freund, K Bailey, Spaide, Richard F, Merriam, John C, Barbazetto, Irene, Slakter, Jason S, Chang, Stanley, Munch, Inger C, Drack, Arlene V, Hernandez, Jasmine, Yzer, Suzanne, Merriam, Joanna E, Linneberg, Allan, Larsen, Michael, Yannuzzi, Lawrence A, Mullins, Robert F, Allikmets, Rando
Publicado em 2014

The ERCC6 Gene and Age-Related Macular Degeneration

Por Baas, Dominique C., Despriet, Dominiek D., Gorgels, Theo G. M. F., Bergeron-Sawitzke, Julie, Uitterlinden, André G., Hofman, Albert, van Duijn, Cornelia M., Merriam, Joanna E., Smith, R. Theodore, Barile, Gaetano R., ten Brink, Jacoline B., Vingerling, Johannes R., Klaver, Caroline C. W., Allikmets, Rando, Dean, Michael, Bergen, Arthur A. B.
Publicado em 2010

The Complement Component 5 gene and Age-related Macular Degeneration

Por Baas, Dominique C., Ho, Lintje, Ennis, Sarah, Merriam, Joanna E., Tanck, Michael W.T., Uitterlinden, André G., de Jong, Paulus T.V.M., Cree, Angela J., Griffiths, Helen L., Rivadeneira, Fernando, Hofman, Albert, van Duijn, Cornelia, Smith, R. Theodore, Barile, Gaetano R., Gorgels, Theo G.M.F., Vingerling, Johannes R., Klaver, Caroline C.W., Lotery, Andrew J., Allikmets, Rando, Bergen, Arthur A.B.
Publicado em 2009

A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD)

Por Grassmann, Felix, Friedrich, Ulrike, Fauser, Sascha, Schick, Tina, Milenkovic, Andrea, Schulz, Heidi L., von Strachwitz, Claudia N., Bettecken, Thomas, Lichtner, Peter, Meitinger, Thomas, Arend, Nicole, Wolf, Armin, Haritoglou, Christos, Rudolph, Guenther, Chakravarthy, Usha, Silvestri, Giuliana, McKay, Gareth J., Freitag-Wolf, Sandra, Krawczak, Michael, Smith, R. Theodore, Merriam, John C., Merriam, Joanna E., Allikmets, Rando, Heid, Iris M., Weber, Bernhard H. F.
Publicado no Neuromolecular Med (2015)

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)

Por Neale, Benjamin M., Fagerness, Jesen, Reynolds, Robyn, Sobrin, Lucia, Parker, Margaret, Raychaudhuri, Soumya, Tan, Perciliz L., Oh, Edwin C., Merriam, Joanna E., Souied, Eric, Bernstein, Paul S., Li, Binxing, Frederick, Jeanne M., Zhang, Kang, Brantley, Milam A., Lee, Aaron Y., Zack, Donald J., Campochiaro, Betsy, Campochiaro, Peter, Ripke, Stephan, Smith, R. Theodore, Barile, Gaetano R., Katsanis, Nicholas, Allikmets, Rando, Daly, Mark J., Seddon, Johanna M.
Publicado em 2010

Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration

Por Baas, Dominique C., Ho, Lintje, Tanck, Michael W.T., Fritsche, Lars G., Merriam, Joanna E., van het Slot, Ruben, Koeleman, Bobby P.C., Gorgels, Theo G.M.F., van Duijn, Cornelia M., Uitterlinden, André G., de Jong, Paulus T.V.M., Hofman, Albert, ten Brink, Jacoline B., Vingerling, Johannes R., Klaver, Caroline C.W., Dean, Michael, Weber, Bernhard H. F., Allikmets, Rando, Hageman, Gregory S., Bergen, Arthur A.B.
Publicado em 2012

A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration

Por Hageman, Gregory S., Anderson, Don H., Johnson, Lincoln V., Hancox, Lisa S., Taiber, Andrew J., Hardisty, Lisa I., Hageman, Jill L., Stockman, Heather A., Borchardt, James D., Gehrs, Karen M., Smith, Richard J. H., Silvestri, Giuliana, Russell, Stephen R., Klaver, Caroline C. W., Barbazetto, Irene, Chang, Stanley, Yannuzzi, Lawrence A., Barile, Gaetano R., Merriam, John C., Smith, R. Theodore, Olsh, Adam K., Bergeron, Julie, Zernant, Jana, Merriam, Joanna E., Gold, Bert, Dean, Michael, Allikmets, Rando
Publicado em 2005

Heritability and Genome-wide Association Study To Assess Genetic Differences Between Advanced Age-Related Macular Degeneration Subtypes

Por Sobrin, Lucia, Ripke, Stephan, Yu, Yi, Fagerness, Jesen, Bhangale, Tushar R., Tan, Perciliz L., Souied, Eric H., Buitendijk, Gabriëlle H.S., Merriam, Joanna E., Richardson, Andrea J., Raychaudhuri, Soumya, Reynolds, Robyn, Chin, Kimberly A., Lee, Aaron Y., Leveziel, Nicolas, Zack, Donald J., Campochiaro, Peter, Smith, R. Theodore, Barile, Gaetano R., Hogg, Ruth E., Chakravarthy, Usha, Behrens, Timothy W., Uitterlinden, André G., van Duijn, Cornelia M., Vingerling, Johannes R., Brantley, Milam A., Baird, Paul N., Klaver, Caroline C.W., Allikmets, Rando, Katsanis, Nicholas, Graham, Robert R., Ioannidis, John P.A., Daly, Mark J., Seddon, Johanna M.
Publicado em 2012

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

Por Yu, Yi, Bhangale, Tushar R., Fagerness, Jesen, Ripke, Stephan, Thorleifsson, Gudmar, Tan, Perciliz L., Souied, Eric H., Richardson, Andrea J., Merriam, Joanna E., Buitendijk, Gabriëlle H.S., Reynolds, Robyn, Raychaudhuri, Soumya, Chin, Kimberly A., Sobrin, Lucia, Evangelou, Evangelos, Lee, Phil H., Lee, Aaron Y., Leveziel, Nicolas, Zack, Donald J., Campochiaro, Betsy, Campochiaro, Peter, Smith, R. Theodore, Barile, Gaetano R., Guymer, Robyn H., Hogg, Ruth, Chakravarthy, Usha, Robman, Luba D., Gustafsson, Omar, Sigurdsson, Haraldur, Ortmann, Ward, Behrens, Timothy W., Stefansson, Kari, Uitterlinden, André G., van Duijn, Cornelia M., Vingerling, Johannes R., Klaver, Caroline C.W., Allikmets, Rando, Brantley, Milam A., Baird, Paul N., Katsanis, Nicholas, Thorsteinsdottir, Unnur, Ioannidis, John P.A., Daly, Mark J., Graham, Robert R., Seddon, Johanna M.
Publicado em 2011

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

Por Ratnapriya, Rinki, Zhan, Xiaowei, Fariss, Robert N., Branham, Kari E., Zipprer, David, Chakarova, Christina F., Sergeev, Yuri V., Campos, Maria M., Othman, Mohammad, Friedman, James S., Maminishkis, Arvydas, Waseem, Naushin H., Brooks, Matthew, Rajasimha, Harsha K., Edwards, Albert O., Lotery, Andrew, Klein, Barbara E., Truitt, Barbara J., Li, Bingshan, Schaumberg, Debra A., Morgan, Denise J., Morrison, Margaux A., Souied, Eric, Tsironi, Evangelia E., Grassmann, Felix, Fishman, Gerald A., Silvestri, Giuliana, Scholl, Hendrik P.N., Kim, Ivana K., Ramke, Jacqueline, Tuo, Jingsheng, Merriam, Joanna E., Merriam, John C., Park, Kyu Hyung, Olson, Lana M., Farrer, Lindsay A., Johnson, Matthew P., Peachey, Neal S., Lathrop, Mark, Baron, Robert V., Igo, Robert P., Klein, Ronald, Hagstrom, Stephanie A., Kamatani, Yoichiro, Martin, Tammy M., Jiang, Yingda, Conley, Yvette, Sahel, Jose-Alan, Zack, Donald J., Chan, Chi-Chao, Pericak-Vance, Margaret A., Jacobson, Samuel G., Gorin, Michael B., Klein, Michael L., Allikmets, Rando, Iyengar, Sudha K., Weber, Bernhard H., Haines, Jonathan L., Léveillard, Thierry, Deangelis, Margaret M., Stambolian, Dwight, Weeks, Daniel E., Bhattacharya, Shomi S., Chew, Emily Y., Heckenlively, John R., Abecasis, Gonçalo R., Swaroop, Anand
Publicado em 2014

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 no Nat Genet (2015)