未登录 Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia 受全光影响的患者中CNGA3基因的综合变异谱 Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Catala-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R.; Jacobson, Samuel G.; Jones, Kaylie; Jaegle, Herbert; Janecke, Andreas R.; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, Andre; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S.; de Ravel, Thomy J. L.; Reiff, Charlotte M.; Renner, Agnes B.; Rosenberg, Thomas; Rudolph, Guenther; Salati, Roberto; Sener, E. Cumhur; Sieving, Paul A.; Stanzial, Franco; Traboulsi, Elias, I; Tsang, Stephen H.; Varsanyi, Balazs; Weleber, Richard G.; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd; Kohl, Susanne 分享 收藏
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis 通过全基因组序列分析破译三个种族人群中IRD的遗传结构和人种学分布 Biswas, Pooja; Villanueva, Adda L.; Soto-Hermida, Angel; Duncan, Jacque L.; Matsui, Hiroko; Borooah, Shyamanga; Kumarov, Berzhan; Richard, Gabriele; Khan, Shahid Yar; Branham, Kari; Huang, Bonnie; Suk, John; Bakall, Benjamin; Goldberg, Jeffrey L.; Gabriel, Luis; Khan, Naheed W.; Raghavendra, Pongali B.; Zhao, 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 分享 收藏
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation Weisschuh, Nicole; Sturm, Marc; Baumann, Britta; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Branham, Kari; Brooks, Brian P.; Catala-Mora, Jaume; Giorda, Roberto; Heckenlively, John R.; Hufnagel, Robert B.; Jacobson, Samuel G.; Kellner, Ulrich; Kitsiou-Tzeli, Sofia; Matet, Alexandre; Sampol, Loreto Martorell; Meunier, Isabelle; Rudolph, Gunther; Sharon, Dror; Stingl, Katarina; Streubel, Berthold; Varsanyi, Balazs; Wissinger, Bernd; Kohl, Susanne 分享 收藏
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration Fahim, Abigail T.; Bouzia, Zaina; Branham, Kari H.; Kumaran, Neruban; Vargas, Mauricio E.; Feathers, Kecia L.; Perera, N. Dayanthi; Young, Kelly; Khan, Naheed W.; Heckenlively, John R.; Webster, Andrew R.; Pennesi, Mark E.; Ali, Robin R.; Thompson, Debra A.; Michaelides, Michel 分享 收藏
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Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy Burkard, Markus; Kohl, Susanne; Kraetzig, Timm; Tanimoto, Naoyuki; Brennenstuhl, Christina; Bausch, Anne E.; Junger, Katrin; Reuter, Peggy; Sothilingam, Vithiyanjali; Beck, Susanne C.; Huber, Gesine; Ding, Xi-Qin; Mayer, Anja K.; Baumann, Britta; Weisschuh, Nicole; Zobor, Ditta; Hahn, Gesa-Astrid; Kellner, Ulrich; Venturelli, Sascha; Becirovic, Elvir; Issa, Peter Charbel; Koenekoop, Robert K.; Rudolph, Guenther; Heckenlively, John; Sieving, Paul; Weleber, Richard G.; Hamel, Christian; Zong, Xiangang; Biel, Martin; Lukowski, Robert; Seeliger, Matthias W.; Michalakis, Stylianos; Wissinger, Bernd; Ruth, Peter 分享 收藏
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Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia Weisschuh, Nicole; Stingl, Katarina; Audo, Isabelle; Biskup, Saskia; Bocquet, Beatrice; Branham, Kari; Burstedt, Marie S.; De Baere, Elfride; De Vries, Meindert J.; Golovleva, Irina; Green, Andrew; Heckenlively, John; Leroy, Bart P.; Meunier, Isabelle; Traboulsi, Elias; Wissinger, Bernd; Kohl, Susanne 分享 收藏
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis 在患有非综合征性隐性视网膜变性的个体中发现的IFT88突变导致异常的纤毛发生 Chekuri, Anil; Guru, Aditya A.; Biswas, Pooja; Branham, Kari; Borooah, Shyamanga; Soto-Hermida, Angel; Hicks, Michael; Khan, Naheed W.; Matsui, Hiroko; Alapati, Akhila; Raghavendra, Pongali B.; Roosing, Susanne; Sarangapani, Sripriya; Mathavan, Sinnakaruppan; Telenti, Amalio; Heckenlively, John R.; Riazuddin, S. Amer; Frazer, Kelly A.; Sieving, Paul A.; Ayyagari, Radha 分享 收藏
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Peripheral Visual Fields in ABCA4 Stargardt Disease and Correlation With Disease Extent on Ultra-widefield Fundus Autofluorescence Abalem, Maria Fernanda; Otte, Benjamin; Andrews, Chris; Joltikov, Katherine A.; Branham, Kari; Fahim, Abigail T.; Schlegel, Dana; Qian, Cynthia X.; Heckenlively, John R.; Jayasundera, Thiran 分享 收藏
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations C2orf71突变是常染色体隐性遗传性视网膜色素变性的常见原因: 8种新突变的临床分析和表现 Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V. M.; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E.; Al-Qahtani, Abdullah A.; Larn, Byron L.; Heckenlively, John; Zweife, Sandrine A.; Vineent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Nahced; Bahr, Angela; Baehr, Luzy; Magyar, Istvan; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang 分享 收藏
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 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. 分享 收藏
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Consensus on the Diagnosis and Management of Nonparaneoplastic Autoimmune Retinopathy Using a Modified Delphi Approach Fox, Austin R.; Gordon, Lynn K.; Heckenlively, John R.; Davis, Janet L.; Goldstein, Debra A.; Lowder, Careen Y.; Nussenblatt, Robert B.; Butler, Nicholas J.; Dalal, Monica; Jayasundera, Thiran; Smith, Wendy M.; Lee, Richard W.; Adamus, Grazyna; Chan, Chi-Chao; Hooks, John J.; Morgans, Catherine W.; Detrick, Barbara; Sen, H. Nida 分享 收藏
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy Buena-Atienza, Elena; Ruether, 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 分享 收藏
Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium Thompson, Debra A.; Ali, Robin R.; Banin, Eyal; Branham, Kari E.; Flannery, John G.; Gamm, David M.; Hauswirth, William W.; Heckenlively, John R.; Iannaccone, Alessandro; Jayasundera, K. Thiran; Khan, Naheed W.; Molday, Robert S.; Pennesi, Mark E.; Reh, Thomas A.; Weleber, Richard G.; Zacks, David N. 分享 收藏
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration 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., Jr.; 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.; Leveillard, Thierry; Deangelis, Margaret M.; Stambolian, Dwight; Weeks, Daniel E.; Bhattacharya, Shomi S.; Chew, Emily Y.; Heckenlively, John R.; Abecasis, Goncalo R.; Swaroop, Anand 分享 收藏
exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels exomeSuite: 整个外显子组序列变体过滤工具，用于快速鉴定引起SNVs/indels的假定疾病 Maranhao, B.; Biswas, P.; Duncan, J. L.; Branham, K. E.; Silva, G. A.; Naeem, M. A.; Khan, S. N.; Riazuddin, S.; Hejtmancik, J. F.; Heckenlively, J. R.; Riazuddin, S. A.; Lee, P. L.; Ayyagari, R. 分享 收藏
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