Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing

por Ratnapriya, Rinki, Swaroop, Anand
Publicado 2013

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing

por Roberts, Lisa, Ratnapriya, Rinki, du Plessis, Morné, Chaitankar, Vijender, Ramesar, Raj S., Swaroop, Anand
Publicado 2016

Single-cell transcriptional profiling of murine conjunctival immune cells reveals distinct populations expressing homeostatic and regulatory genes

por Alam, Jehan, Yazdanpanah, Ghasem, Ratnapriya, Rinki, Borcherding, Nicholas, de Paiva, Cintia S., Li, DeQuan, Pflugfelder, Stephen C.
Publicado 2022

A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration

por Ratnapriya, Rinki, Jacobson, Samuel G., Cideciyan, Artur V., English, Milton A., Roman, Alejandro J., Sumaroka, Alexander, Sheplock, Rebecca, Swaroop, Anand
Publicado 2021

A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant

por Namburi, Prasanthi, Khateb, Samer, Meyer, Segev, Bentovim, Tom, Ratnapriya, Rinki, Khramushin, Alisa, Swaroop, Anand, Schueler-Furman, Ora, Banin, Eyal, Sharon, Dror
Publicado 2020

Association of age-related macular degeneration with complement activation products, smoking, and single nucleotide polymorphisms in South Carolinians of European and African desce...

por Rohrer, Bärbel, Frazer-Abel, Ashley, Leonard, Anthony, Ratnapriya, Rinki, Ward, Tyson, Pietraszkiewicz, Alexandra, O’Quinn, Elizabeth, Adams, Katherine, Swaroop, Anand, Wolf, Bethany Jacobs
Publicado 2019

IL-17 Producing Lymphocytes Cause Dry Eye and Corneal Disease With Aging in RXRα Mutant Mouse

por Alam, Jehan, Yazdanpanah, Ghasem, Ratnapriya, Rinki, Borcherding, Nicholas, de Paiva, Cintia S., Li, DeQuan, Guimaraes de Souza, Rodrigo, Yu, Zhiyuan, Pflugfelder, Stephen C.
Publicado 2022

A mega-analysis of expression quantitative trait loci in retinal tissue

por Strunz, Tobias, Kiel, Christina, Grassmann, Felix, Ratnapriya, Rinki, Kwicklis, Madeline, Karlstetter, Marcus, Fauser, Sascha, Arend, Nicole, Swaroop, Anand, Langmann, Thomas, Wolf, Armin, Weber, Bernhard H. F.
Publicado 2020

Clinical and Genetic Factors Associated with Progression of Geographic Atrophy Lesions in Age-Related Macular Degeneration

por Grassmann, Felix, Fleckenstein, Monika, Chew, Emily Y., Strunz, Tobias, Schmitz-Valckenberg, Steffen, Göbel, Arno P., Klein, Michael L., Ratnapriya, Rinki, Swaroop, Anand, Holz, Frank G., Weber, Bernhard H. F.
Publicado 2015

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

por McGuigan, David B., Heon, Elise, Cideciyan, Artur V., Ratnapriya, Rinki, Lu, Monica, Sumaroka, Alexander, Roman, Alejandro J., Batmanabane, Vaishnavi, Garafalo, Alexandra V., Stone, Edwin M., Swaroop, Anand, Jacobson, Samuel G.
Publicado 2017

QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration

por Advani, Jayshree, Corso-Diaz, Ximena, Kwicklis, Madeline, van Asten, Freekje, Ratnapriya, Rinki, Mehta, Puja, Hamel, Andrew, Mahrotra, Sudeep, Segrè, Ayellet, Kiel, Christina, Strunz, Tobias, Weber, Bernhard, Chew, Emily, Hernandez, Dena, Montezuma, Sandra, Ferrington, Deborah, Swaroop, Anand
Publicado 2023

Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration

por Ratnapriya, Rinki, Sosina, Olukayode A., Starostik, Margaret R., Kwicklis, Madeline, Kapphahn, Rebecca J., Fritsche, Lars G., Walton, Ashley, Arvanitis, Marios, Gieser, Linn, Pietraszkiewicz, Alexandra, Montezuma, Sandra R., Chew, Emily Y., Battle, Alexis, Abecasis, Gonçalo R., Ferrington, Deborah A., Chatterjee, Nilanjan, Swaroop, Anand
Publicado 2019

REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival

por Veleri, Shobi, Nellissery, Jacob, Mishra, Bibhudatta, Manjunath, Souparnika H., Brooks, Matthew J., Dong, Lijin, Nagashima, Kunio, Qian, Haohua, Gao, Chun, Sergeev, Yuri V., Huang, Xiu-Feng, Qu, Jia, Lu, Fan, Cideciyan, Artur V., Li, Tiansen, Jin, Zi-Bing, Fariss, Robert N., Ratnapriya, Rinki, Jacobson, Samuel G., Swaroop, Anand
Publicado 2017

Family-based exome sequencing identifies rare coding variants in age-related macular degeneration

por Ratnapriya, Rinki, Acar, İlhan E, Geerlings, Maartje J, Branham, Kari, Kwong, Alan, Saksens, Nicole T M, Pauper, Marc, Corominas, Jordi, Kwicklis, Madeline, Zipprer, David, Starostik, Margaret R, Othman, Mohammad, Yashar, Beverly, Abecasis, Goncalo R, Chew, Emily Y, Ferrington, Deborah A, Hoyng, Carel B, Swaroop, Anand, den Hollander, Anneke I
Publicado 2020

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

por Beryozkin, Avigail, Shevah, Elia, Kimchi, Adva, Mizrahi-Meissonnier, Liliana, Khateb, Samer, Ratnapriya, Rinki, Lazar, Csilla H., Blumenfeld, Anat, Ben-Yosef, Tamar, Hemo, Yitzhak, Pe’er, Jacob, Averbuch, Eduard, Sagi, Michal, Boleda, Alexis, Gieser, Linn, Zlotogorski, Abraham, Falik-Zaccai, Tzipora, Alimi-Kasem, Ola, Jacobson, Samuel G., Chowers, Itay, Swaroop, Anand, Banin, Eyal, Sharon, Dror
Publicado 2015

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