Items where Division is "Medicine > Lehrstuhl für Humangenetik" and Year is 2019

A

Ali, Mariya and Qi, Jian Hua and Wolk, Alyson and Cutler, Alecia and Stoehr, Heidi and Hershberger, Courtney and Mahajan, Gautam and Kothapalli, Chandrasekhar and Anand-Apte, Bela (2019) Alterations in microvilli on the surface of retinal Pigment Epithelial (RPE) cells in Sorsby's Fundus Dystrophy. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

Anand-Apte, Bela and Chao, Jennifer R. and Singh, Ruchira and Stoehr, Heidi (2019) Sorsby fundus dystrophy: Insights from the past and looking to the future. WILEY, HOBOKEN.

B

Brandl, Caroline and Borgmann, Felicitas and Zimmermann, Martina E. and Helbig, Horst and Weber, Bernhard H. F. and Heid, Iris M. and Stark, Klaus J. (2019) Vitreo-retinal interface abnormalities in an older European population: results from the AugUR study. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

Brandl, Caroline and Bruecklmayer, Christiane and Guenther, Felix and Zimmermann, Martina E. and Kuechenhoff, Helmut and Helbig, Horst and Weber, Bernhard H. F. and Heid, Iris M. and Stark, Klaus J. (2019) Retinal Layer Thicknesses in Early Age-Related Macular Degeneration: Results From the German AugUR Study. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 60 (5). pp. 1581-1594. ISSN 0146-0404, 1552-5783

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Ferreira, Manuel A. and Gamazon, Eric R. and Al-Ejeh, Fares and Aittomaki, Kristiina and Andrulis, Irene L. and Anton-Culver, Hoda and Arason, Adalgeir and Arndt, Volker and Aronson, Kristan J. and Arun, Banu K. and Asseryanis, Ella and Azzollini, Jacopo and Balmana, Judith and Barnes, Daniel R. and Barrowdale, Daniel and Beckmann, Matthias W. and Behrens, Sabine and Benitez, Javier and Bermisheva, Marina and Bialkowska, Katarzyna and Blomqvist, Carl and Bogdanova, Natalia and Bojesen, Stig E. and Bolla, Manjeet K. and Borg, Ake and Brauch, Hiltrud and Brenner, Hermann and Broeks, Annegien and Burwinkel, Barbara and Caldes, Trinidad and Caligo, Maria A. and Campa, Daniele and Campbell, Ian and Canzian, Federico and Carter, Jonathan and Carter, Brian D. and Castelao, Jose E. and Chang-Claude, Jenny and Chanock, Stephen J. and Christiansen, Hans and Chung, Wendy K. and Claes, Kathleen B. M. and Clarke, Christine L. and Couch, Fergus J. and Cox, Angela and Cross, Simon S. and Czene, Kamila and Daly, Mary B. and de la Hoya, Miguel and Dennis, Joe and Devilee, Peter and Diez, Orland and Doerk, Thilo and Dunning, Alison M. and Dwek, Miriam and Eccles, Diana M. and Ejlertsen, Bent and Ellberg, Carolina and Engel, Christoph and Eriksson, Mikael and Fasching, Peter A. and Fletcher, Olivia and Flyger, Henrik and Friedman, Eitan and Frost, Debra and Gabrielson, Marike and Gago-Dominguez, Manuela and Ganz, Patricia A. and Gapstur, Susan M. and Garber, Judy and Garcia-Closas, Montserrat and Garcia-Saenz, Jose A. and Gaudet, Mia M. and Giles, Graham G. and Glendon, Gord and Godwin, Andrew K. and Goldberg, Mark S. and Goldgar, David E. and Gonzalez-Neira, Anna and Greene, Mark H. and Gronwald, Jacek and Guenel, Pascal and Haiman, Christopher A. and Hall, Per and Hamann, Ute and He, Wei and Heyworth, Jane and Hogervorst, Frans B. L. and Hollestelle, Antoinette and Hoover, Robert N. and Hopper, John L. and Hulick, Peter J. and Humphreys, Keith and Imyanitov, Evgeny N. and Isaacs, Claudine and Jakimovska, Milena and Jakubowska, Anna and James, Paul A. and Janavicius, Ramunas and Jankowitz, Rachel C. and John, Esther M. and Johnson, Nichola and Joseph, Vijai and Karlan, Beth Y. and Khusnutdinova, Elza and Kiiski, Johanna and Ko, Yon-Dschun and Jones, Michael E. and Konstantopoulou, Irene and Kristensen, Vessela N. and Laitman, Yael and Lambrechts, Diether and Lazaro, Conxi and Leslie, Goska and Lester, Jenny and Lesueur, Fabienne and Lindstrom, Sara and Long, Jirong and Loud, Jennifer T. and Lubinski, Jan and Makalic, Enes and Mannermaa, Arto and Manoochehri, Mehdi and Margolin, Sara and Maurer, Tabea and Mavroudis, Dimitrios and McGuffog, Lesley and Meindl, Alfons and Menon, Usha and Michailidou, Kyriaki and Miller, Austin and Montagna, Marco and Moreno, Fernando and Moserle, Lidia and Mulligan, Anna Marie and Nathanson, Katherine L. and Neuhausen, Susan L. and Nevanlinna, Heli and Nevelsteen, Ines and Nielsen, Finn C. and Nikitina-Zake, Liene and Nussbaum, Robert L. and Offit, Kenneth and Olah, Edith and Olopade, Olufunmilayo and Olsson, Hakan and Osorio, Ana and Papp, Janos and Park-Simon, Tjoung-Won and Parsons, Michael T. and Pedersen, Inge Sokilde and Peixoto, Ana and Peterlongo, Paolo and Pharoah, Paul D. P. and Plaseska-Karanfilska, Dijana and Poppe, Bruce and Presneau, Nadege and Radice, Paolo and Rantala, Johanna and Rennert, Gad and Risch, Harvey A. and Saloustros, Emmanouil and Sanden, Kristin and Sawyer, Elinor J. and Schmidt, Marjanka K. and Schmutzler, Rita K. and Sharma, Priyanka and Shu, Xiao-Ou and Simard, Jacques and Singer, Christian F. and Soucy, Penny and Southey, Melissa C. and Spinelli, John J. and Spurdle, Amanda B. and Stone, Jennifer and Swerdlow, Anthony J. and Tapper, William J. and Taylor, Jack A. and Teixeira, Manuel R. and Terry, Mary Beth and Teule, Alex and Thomassen, Mads and Thoene, Kathrin and Thull, Darcy L. and Tischkowitz, Marc and Toland, Amanda E. and Torres, Diana and Truong, Therese and Tung, Nadine and Vachon, Celine M. and van Asperen, Christi J. and van den Ouweland, Ans M. W. and van Rensburg, Elizabeth J. and Vega, Ana and Viel, Alessandra and Wang, Qin and Wappenschmidt, Barbara and Weitzel, Jeffrey N. and Wendt, Camilla and Winqvist, Robert and Yang, Xiaohong R. and Yannoukakos, Drakoulis and Ziogas, Argyrios and Kraft, Peter and Antoniou, Antonis C. and Zheng, Wei and Easton, Douglas F. and Milne, Roger L. and Beesley, Jonathan and Chenevix-Trench, Georgia and Arnold, Norbert and Auber, Bernd and Bogdanova-Markov, Nadja and Borde, Julika and Caliebe, Almuth and Ditsch, Nina and Dworniczak, Bernd and Engert, Stefanie and Faust, Ulrike and Gehrig, Andrea and Hahnen, Eric and Hauke, Jan and Hentschel, Julia and Herold, Natalie and Honisch, Ellen and Just, Walter and Kast, Karin and Larsen, Mirjam and Lemke, Johannes and Huu Phuc Nguyen, and Niederacher, Dieter and Ott, Claus-Eric and Platzer, Konrad and Pohl-Rescigno, Esther and Ramser, Juliane and Rhiem, Kerstin and Steinemann, Doris and Sutter, Christian and Varon-Mateeva, Raymonda and Wang-Gohrke, Shan and Weber, Bernhard H. F. and Prieur, Fabienne and Pujol, Pascal and Sagne, Charlotte and Sevenet, Nicolas and Sobol, Hagay and Sokolowska, Johanna and Stoppa-Lyonnet, Dominique and Venat-Bouvet, Laurence and Adlard, Julian and Ahmed, Munaza and Barwell, Julian and Brady, Angela and Brewer, Carole and Cook, Jackie and Davidson, Rosemarie and Donaldson, Alan and Eason, Jacqueline and Eeles, Ros and Evans, D. Gareth and Gregory, Helen and Hanson, Helen and Henderson, Alex and Hodgson, Shirley and Izatt, Louise and Kennedy, M. John and Lalloo, Fiona and Miller, Clare and Morrison, Patrick J. and Ong, Kai-ren and Perkins, Jo and Porteous, Mary E. and Rogers, Mark T. and Side, Lucy E. and Snape, Katie and Walker, Lisa and Harrington, Patricia A. and Heemskerk-Gerritsen, Bernadette A. M. and Rookus, Matti A. and Seynaeve, Caroline M. and van der Baan, Frederieke H. and van der Hout, Annemieke H. and van der Kolk, Lizet E. and van der Luijt, Rob B. and van Deurzen, Carolien H. M. and van Doorn, Helena C. and van Engelen, Klaartje and van Hest, Liselotte and van Os, Theo A. M. and Verhoef, Senno and Vogel, Maartje J. and Wijnen, Juul T. and Miron, Alexander and Kapuscinski, Miroslav and Bane, Anita and Ross, Eric and Buys, Saundra S. and Conner, Thomas A. and Balleine, Rosemary and Baxter, Robert and Braye, Stephen and Carpenter, Jane and Dahlstrom, Jane and Forbes, John and Lee, Soon C. and Marsh, Deborah and Morey, Adrienne and Pathmanathan, Nirmala and Simpson, Peter and Spigelman, Allan and Wilcken, Nicholas and Yip, Desmond (2019) Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. NATURE COMMUNICATIONS, 10: 1741. ISSN 2041-1723

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Geis, Tobias and Roedl, Tanja and Topaloglu, Haluk and Balci-Hayta, Burcu and Hinreiner, Sophie and Mueller-Felber, Wolfgang and Schoser, Benedikt and Mehraein, Yasmin and Huebner, Angela and Zirn, Birgit and Hoopmann, Markus and Reutter, Heiko and Mowat, David and Schuierer, Gerhard and Schara, Ulrike and Hehr, Ute and Koelbel, Heike (2019) Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders. ORPHANET JOURNAL OF RARE DISEASES, 14: 179. ISSN 1750-1172

Grassmann, Felix and Harsch, Sebastian and Brandl, Caroline and Kiel, Christina and Nuernberg, Peter and Toliat, Mohammad R. and Fleckenstein, Monika and Pfau, Maximilian and Schmitz-Valckenberg, Steffen and Holz, Frank G. and Chew, Emily Y. and Swaroop, Anand and Ratnapriya, Rinki and Klein, Michael L. and Mulyukov, Zufar and Zamiri, Parisa and Weber, Bernhard H. F. (2019) Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration. JAMA OPHTHALMOLOGY, 137 (8). pp. 867-876. ISSN 2168-6165, 2168-6173

Grassmann, Felix and Kiel, Christina and den Hollander, Anneke I. and Weeks, Daniel E. and Lotery, Andrew and Cipriani, Valentina and Weber, Bernhard H. F. (2019) Y chromosome mosaicism is associated with age-related macular degeneration. EUROPEAN JOURNAL OF HUMAN GENETICS, 27 (1). pp. 36-41. ISSN 1018-4813, 1476-5438

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Hebebrand, Moritz and Hueffmeier, Ulrike and Trollmann, Regina and Hehr, Ute and Uebe, Steffen and Ekici, Arif B. and Kraus, Cornelia and Krumbiegel, Mandy and Reis, Andre and Thiel, Christian T. and Popp, Bernt (2019) The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. ORPHANET JOURNAL OF RARE DISEASES, 14: 38. ISSN 1750-1172

Hehr, Andreas and Paulmann, Bernd and Gassner, Claudia and Krauss-Dreher, Susann and Seifert, Bernd and Hehr, Ute (2019) Preimplantation testing for monogenic disorders at the PGD centre Regensburg. MEDIZINISCHE GENETIK, 31 (3). pp. 266-274. ISSN 0936-5931, 1863-5490

Hinreiner, S. and Roedl, T. and Geis, T. and Melter, M. and Schuierer, G. and Hehr, U. (2019) Cerebral MR imaging based genetic assessment of brain malformations. NATURE PUBLISHING GROUP, LONDON.

Hoffmann, Anna-Carin and Minakaki, Georgia and Menges, Stefanie and Salvi, Rachele and Savitskiy, Sergey and Kazman, Aida and Vicente Miranda, Hugo and Mielenz, Dirk and Klucken, Jochen and Winkler, Juergen and Xiang, Wei (2019) Extracellular aggregated alpha synuclein primarily triggers lysosomal dysfunction in neural cells prevented by trehalose. SCIENTIFIC REPORTS, 9: 544. ISSN 2045-2322

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Kellner, Ulrich and Stoehr, Heidi and Budde, Birgit and Kellner, Simone and Weinitz, Silke and Farmand, Ghazaleh and Lindau, Birgit and Weber, Bernhard H. F. (2019) North-Carolina Macular dystrophy like phenotype in a three generation pedigree wit autosomal dominant inheritance and exclusion of MCRD1. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

Khan, Mubeen and Cornelis, Stephanie and Valero, Marta del Pozo and Khan, Muhammad Imran and Stoehr, Heidi and Grassmann, Felix and Steehouwer, Marloes and Hoischen, Alexander and Ayuso, Carmen and Ramesar, Raj and Meunier, Isabelle Anne and Defoort, Sabine and Weber, Bernhard H. F. and Dhaenens, Claire-Marie and Cremers, Frans P. (2019) Towards comprehensive identification and functional characterization of deep-intronic ABCA4 variants in 1000 Stargardt disease cases. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

Khan, Mubeen and Cornelis, Stephanie S. and Khan, Muhammad Imran and Elmelik, Duaa and Manders, Eline and Bakker, Sem and Derks, Ronny and Neveling, Kornelia and van DeVorst, Maartje and Gilissen, Christian and Meunier, Isabelle and Defoort, Sabine and Puech, Bernard and Devos, Aurore and Schulz, Heidi L. and Stoehr, Heidi and Grassmann, Felix and Weber, Bernhard H. F. and Dhaenens, Claire-Marie and Cremers, Frans P. M. (2019) Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease. HUMAN MUTATION, 40 (10). pp. 1749-1759. ISSN 1059-7794, 1098-1004

Kuechler, A. and Elgizouli, M. and Rupprich, K. and Stein, A. and Dzietko, M. and Iannaccone, A. and Koeninger, A. and Schweiger, B. and Koelbel, H. and Schara, U. and Hehr, U. (2019) POMK-associated Walker-Warburg Syndrome (WWS) in monozygotic twins with occipital meningocele. NATURE PUBLISHING GROUP, LONDON.

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Mages, Kristin and Grassmann, Felix and Jaegle, Herbert and Rupprecht, Rainer and Weber, Bernhard H. F. and Hauck, Stefanie M. and Grosche, Antje (2019) The agonistic TSPO ligand XBD173 attenuates the glial response thereby protecting inner retinal neurons in a murine model of retinal ischemia. JOURNAL OF NEUROINFLAMMATION, 16: 43. ISSN 1742-2094

Milenkovic, Andrea and Schmied, Denise and Tanimoto, Naoyuki and Seeliger, Mathias W. and Sparrow, Janet R. and Weber, Bernhard H. F. (2019) The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy. BIOLOGY OPEN, 8 (7): UNSP bio04. ISSN 2046-6390

Milenkovic, Andrea and Weber, Bernhard H. F. (2019) CRISPR/Cas9-Mediated Genome Editing to Treat Best Vitelliforme Macular Dystrophy. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

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Parsons, Michael T. and Tudini, Emma and Li, Hongyan and Hahnen, Eric and Wappenschmidt, Barbara and Feliubadalo, Lidia and Aalfs, Cora M. and Agata, Simona and Aittomaki, Kristiina and Alducci, Elisa and Concepcion Alonso-Cerezo, Maria and Arnold, Norbert and Auber, Bernd and Austin, Rachel and Azzollini, Jacopo and Balmana, Judith and Barbieri, Elena and Bartram, Claus R. and Blanco, Ana and Bluemcke, Britta and Bonache, Sandra and Bonanni, Bernardo and Borg, Ake and Bortesi, Beatrice and Brunet, Joan and Bruzzone, Carla and Bucksch, Karolin and Cagnoli, Giulia and Caldes, Trinidad and Caliebe, Almuth and Caligo, Maria A. and Calvello, Mariarosaria and Capone, Gabriele L. and Caputo, Sandrine M. and Carnevali, Ileana and Carrasco, Estela and Caux-Moncoutier, Virginie and Cavalli, Pietro and Cini, Giulia and Clarke, Edward M. and Concolino, Paola and Cops, Elisa J. and Cortesi, Laura and Couch, Fergus J. and Darder, Esther and de la Hoya, Miguel and Dean, Michael and Debatin, Irmgard and Del Valle, Jesus and Delnatte, Capucine and Derive, Nicolas and Diez, Orland and Ditsch, Nina and Domchek, Susan M. and Dutrannoy, Veronique and Eccles, Diana M. and Ehrencrona, Hans and Enders, Ute and Evans, D. Gareth and Farra, Chantal and Faust, Ulrike and Felbor, Ute and Feroce, Irene and Fine, Miriam and Foulkes, William D. and Galvao, Henrique Cr and Gambino, Gaetana and Gehrig, Andrea and Gensini, Francesca and Gerdes, Anne-Marie and Germani, Aldo and Giesecke, Jutta and Gismondi, Viviana and Gomez, Carolina and Garcia, Encarna B. Gomez and Gonzalez, Sara and Grau, Elia and Grill, Sabine and Gross, Eva and Guerrieri-Gonzaga, Aliana and Guillaud-Bataille, Marine and Gutierrez-Enriquez, Sara and Haaf, Thomas and Hackmann, Karl and Hansen, Thomas Vo and Harris, Marion and Hauke, Jan and Heinrich, Tilman and Hellebrand, Heide and Herold, Karen N. and Honisch, Ellen and Horvath, Judit and Houdayer, Claude and Huebbel, Verena and Iglesias, Silvia and Izquierdo, Angel and James, Paul A. and Janssen, Linda Am and Jeschke, Udo and Kaulfuss, Silke and Keupp, Katharina and Kiechle, Marion and Koelbl, Alexandra and Krieger, Sophie and Kruse, Torben A. and Kvist, Anders and Lalloo, Fiona and Larsen, Mirjam and Lattimore, Vanessa L. and Lautrup, Charlotte and Ledig, Susanne and Leinert, Elena and Lewis, Alexandra L. and Lim, Joanna and Loeffler, Markus and Lopez-Fernandez, Adria and Lucci-Cordisco, Emanuela and Maass, Nicolai and Manoukian, Siranoush and Marabelli, Monica and Matricardi, Laura and Meindl, Alfons and Michelli, Rodrigo D. and Moghadasi, Setareh and Moles-Fernandez, Alejandro and Montagna, Marco and Montalban, Gemma and Monteiro, Alvaro N. and Montes, Eva and Mori, Luigi and Moserle, Lidia and Mueller, Clemens R. and Mundhenke, Christoph and Naldi, Nadia and Nathanson, Katherine L. and Navarro, Matilde and Nevanlinna, Heli and Nichols, Cassandra B. and Niederacher, Dieter and Nielsen, Henriette R. and Ong, Kai-ren and Pachter, Nicholas and Palmero, Edenir and Papi, Laura and Pedersen, Inge Sokilde and Peissel, Bernard and Perez-Segura, Pedro and Pfeifer, Katharina and Pineda, Marta and Pohl-Rescigno, Esther and Poplawski, Nicola K. and Porfirio, Berardino and Quante, Anne S. and Ramser, Juliane and Reis, Rui M. and Revillion, Francoise and Rhiem, Kerstin and Riboli, Barbara and Ritter, Julia and Rivera, Daniela and Rofes, Paula and Rump, Andreas and Salinas, Monica and Sanchez de Abajo, Ana Maria and Schmidt, Gunnar and Schoenwiese, Ulrike and Seggewiss, Jochen and Solanes, Ares and Steinemann, Doris and Stiller, Mathias and Stoppa-Lyonnet, Dominique and Sullivan, Kelly J. and Susman, Rachel and Sutter, Christian and Tavtigian, Sean and Teo, Soo H. and Teule, Alex and Thomassen, Mads and Tibiletti, Maria Grazia and Tischkowitz, Marc and Tognazzo, Silvia and Toland, Amanda E. and Tornero, Eva and Torngren, Therese and Torres-Esquius, Sara and Toss, Angela and Trainer, Alison H. and Tucker, Katherine M. and van Asperen, Christi J. and van Mackelenbergh, Marion T. and Varesco, Liliana and Vargas-Parra, Gardenia and Varon, Raymonda and Vega, Ana and Velasco, Angela and Vesper, Anne-Sophie and Viel, Alessandra and Vreeswijk, Maaike P. G. and Wagner, Sebastian A. and Waha, Anke and Walker, Logan C. and Walters, Rhiannon J. and Wang-Gohrke, Shan and Weber, Bernhard H. F. and Weichert, Wilko and Wieland, Kerstin and Wiesmueller, Lisa and Witzel, Isabell and Woeckel, Achim and Woodward, Emma R. and Zachariae, Silke and Zampiga, Valentina and Zeder-Goss, Christine and Lazaro, Conxi and De Nicolo, Arcangela and Radice, Paolo and Engel, Christoph and Schmutzler, Rita K. and Goldgar, David E. and Spurdle, Amanda B. (2019) Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. HUMAN MUTATION, 40 (9). pp. 1557-1578. ISSN 1059-7794, 1098-1004

Pauly, D. and Agarwal, D. and Dana, N. and Schaefer, N. and Grassmann, F. and Zhang, N. R. and Gautam, A. K. and Weber, B. H. F. and Hauck, S. M. and Kim, M. and Curcio, C. and Stambolian, D. and Li, M. and Grosche, A. (2019) Glial cells shape the complement homeostasis the healthy and diseased murine retina. WILEY, HOBOKEN.

Ploessl, Karolina and Lauer, Annie and Kiel, Christina and Brandl, Caroline and Grassmann, Felix and Weber, Bernhard H. F. (2019) An iPSC-derived RPE cell repository with high and low genetic AMD risk as model systems to study AMD pathology in vitro. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

Ploessl, Karolina and Straub, Kristina and Schmid, Verena and Strunz, Franziska and Wild, Jens and Merkl, Rainer and Weber, Bernhard H. F. and Friedrich, Ulrike (2019) Identification of the retinoschisin-binding site on the retinal Na/K-ATPase. PLOS ONE, 14 (5): e0216320. ISSN 1932-6203

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Qi, Jian Hua and Bell, Brent and Singh, Rupesh and Batoki, Julia and Wolk, Alyson and Cutler, Alecia and Prayson, Nicholas and Ali, Mariya and Stoehr, Heidi and Anand-Apte, Bela (2019) Sorsby Fundus Dystrophy Mutation in Tissue Inhibitor of Metalloproteinase 3 (TIMP3) promotes Choroidal Neovascularization via a Fibroblast Growth Factor-dependent Mechanism. SCIENTIFIC REPORTS, 9: 17429. ISSN 2045-2322

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Rating, P. and Stoehr, H. and Neuhaus, C. and Schaperdoth-Gerlings, B. and Boehm, M. R. R. and Freimuth, M. -A. and Bechrakis, N. E. (2019) Multimodal diagnostic of CSNB1 with NYX gene mutation. OPHTHALMOLOGE, 116 (12). pp. 1207-1211. ISSN 0941-293X, 1433-0423

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Sangermano, Riccardo and Garanto, Alejandro and Khan, Mubeen and Runhart, Esmee H. and Bauwens, Miriam and Bax, Nathalie M. and van den Born, L. Ingeborgh and Khan, Muhammad Imran and Cornelis, Stephanie S. and Verheij, Joke B. G. M. and Pott, Jan-Willem R. and Thiadens, Alberta A. H. J. and Klaver, Caroline C. W. and Puech, Bernard and Meunier, Isabelle and Naessens, Sarah and Arno, Gavin and Fakin, Ana and Carss, Keren J. and Raymond, F. Lucy and Webster, Andrew R. and Dhaenens, Claire-Marie and Stoehr, Heidi and Grassmann, Felix and Weber, Bernhard H. F. and Hoyng, Carel B. and De Baere, Elfride and Albert, Silvia and Collin, Rob W. J. and Cremers, Frans P. M. (2019) Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. GENETICS IN MEDICINE, 21 (8). pp. 1751-1760. ISSN 1098-3600, 1530-0366

Sepahi, Ilnaz and Faust, Ulrike and Sturm, Marc and Bosse, Kristin and Kehrer, Martin and Heinrich, Tilman and Grundman-Hauser, Kathrin and Bauer, Peter and Ossowski, Stephan and Susak, Hana and Varon, Raymonda and Schroeck, Evelin and Niederacher, Dieter and Auber, Bernd and Sutter, Christian and Arnold, Norbert and Hahnen, Eric and Dworniczak, Bernd and Wang-Gorke, Shan and Gehrig, Andrea and Weber, Bernhard H. F. and Engel, Christoph and Lemke, Johannes R. and Hartkopf, Andreas and Huu Phuc Nguyen, and Riess, Olaf and Schroeder, Christopher (2019) Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women. BMC CANCER, 19 (1): 787. ISSN 1471-2407

Stoehr, Heidi and Schmied, Denise and Borgolte, Deborah and Kiel, Christina (2019) An ex vivo mouse culture model to study choroidal vascularization in Sorsby fundus dystrophy. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

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Volz, Cornelia and Grassmann, Felix and Greslechner, Roman and Marker, David Arthur and Peters, Patrick and Helbig, Horst and Gamulescu, Maria-Andreea (2019) Spectral Domain Optical Coherence Tomography Allows the Unification of Clinical Decision Making for the Evaluation of Choroidal Neovascularization Activity. OPHTHALMOLOGICA, 241 (1). pp. 32-37. ISSN 0030-3755, 1423-0267

Volz, Cornelia and Mirza, Myriam and Langmann, Thomas and Jaegle, Herbert (2019) Extended electrophysiological characterization of the retinal degeneration in CLN6nclf mice. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

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