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Anzahl der Publikationen: 5
Zeitschriftenartikel
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 und Kohl, Susanne
(2022):
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
In: Human Mutation, Bd. 43, Nr. 7: S. 832-858
Nassisi, Marco; Smirnov, Vasily M.; Solis Hernandez, Cyntia; Mohand-Said, Saddek; Condroyer, Christel; Antonio, Aline; Kuehlewein, Laura; Kempf, Melanie; Kohl, Susanne; Wissinger, Bernd; Nasser, Fadi; Ragi, Sara D.; Wang, Nan-Kai; Sparrow, Janet R.; Greenstein, Vivienne C.; Michalakis, Stylianos; Mahroo, Omar A.; Ba-Abbad, Rola; Michaelides, Michel; Webster, Andrew R.; Degli Esposti, Simona; Saffren, Brooke; Capasso, Jenina; Levin, Alex; Hauswirth, William W.; Dhaenens, Claire-Marie; Defoort-Dhellemmes, Sabine; Tsang, Stephen H.; Zrenner, Eberhart; Sahel, Jose-Alain; Petersen-Jones, Simon M.; Zeitz, Christina und Audo, Isabelle
(2021):
CNGB1-related rod-cone dystrophy: A mutation review and update.
In: Human Mutation, Bd. 42, Nr. 6: S. 641-666
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 und Kohl, Susanne
(2019):
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
In: Human Mutation, Bd. 41, Nr. 1: S. 255-264
Waksmunski, Andrea R.; Grunin, Michelle; Kinzy, Tyler G.; Igo, Robert P.; Haines, Jonathan L.; Bailey, Jessica N. Cooke; Fritsche, Lars G.; Igl, Wilmar; 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, Gabrielle 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; 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 A.; Mohand-Said, Saddek; Sahel, Jose-Alain; Audo, Isabelle; Benchaboune, Mustapha; Cree, Angela J.; Rennie, Christina A.; Goverdhan, Srinivas; Hagbi-Levi, Shira; Campochiaro, Peter; Katsanis, Nicholas; Holz, Frank G.; Blond, Frederic; Blanche, Helene; Deleuze, Jean-Francois; 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; Tan, Ava G.; Gopinath, Bamini; Merriam, John C.; Smith, R. Theodore; Khan, Jane C.; Shahid, Humma; Moore, Anthony T.; McGrath, J. Allie; Laux, Renee; 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; 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.; Leveillard, Thierry; Zhang, Kang; Brilliant, Murray H.; Hewitt, Alex W.; Swaroop, Anand; Chew, Emily Y.; Pericak-Vance, Margaret A.; DeAngelis, Margaret; Stambolian, Dwight; Iyengar, Sudha K.; Weber, Bernhard H. F.; Abecasis, Goncalo R. und Heid, Iris M.
(2019):
Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration.
In: Investigative Ophthalmology & Visual Science, Bd. 60, Nr. 12: S. 4041-4051
Michalakis, Stylianos; Shaltiel, Lior; Sothilingam, Vithiyanjali; Koch, Susanne; Schludi, Verena; Krause, Stefanie; Zeitz, Christina; Audo, Isabelle; Lancelot, Marie-Elise; Hamel, Christian; Meunier, Isabelle; Preising, Markus N.; Friedburg, Christoph; Lorenz, Birgit; Zabouri, Nawal; Haverkamp, Silke; Garcia Garrido, Marina; Tanimoto, Naoyuki; Seeliger, Mathias W.; Biel, Martin und Wahl-Schott, Christian A.
(2017):
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2 (vol 23, pg 1538, 2014).
In: Human Molecular Genetics, Bd. 26, Nr. 2: S. 466