CDHR1 mutations in retinal dystrophies
Stingl, Katarina, Mayer, Anja K., Llavona, Pablo, Mulahasanovic, Lejla, Rudolph, Günther, Jacobson, Samuel G., Zrenner, Eberhart, Kohl, Susanne, Wissinger, Bernd, Weisschuh, Nicole
Published in Scientific reports (01.08.2017)
Published in Scientific reports (01.08.2017)
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Journal Article
Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3 -Associated Autosomal Recessive Achromatopsia
Kohl, Susanne, Baumann, Britta, Dassie, Francesca, Mayer, Anja K, Solaki, Maria, Reuter, Peggy, Kühlewein, Laura, Wissinger, Bernd, Maffei, Pietro
Published in International journal of molecular sciences (22.07.2021)
Published in International journal of molecular sciences (22.07.2021)
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Journal Article
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation
Mayer, Anja K, Rohrschneider, Klaus, Strom, Tim M, Glöckle, Nicola, Kohl, Susanne, Wissinger, Bernd, Weisschuh, Nicole
Published in European journal of human genetics : EJHG (01.03.2016)
Published in European journal of human genetics : EJHG (01.03.2016)
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Journal Article
Regulation of local immunity by airway epithelial cells
Mayer, Anja K, Dalpke, Alexander H
Published in Archivum Immunologiae et Therapiae Experimentalis (01.12.2007)
Published in Archivum Immunologiae et Therapiae Experimentalis (01.12.2007)
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Journal Article
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients
Mayer, Anja K., Cauwenbergh, Caroline, Rother, Christine, Baumann, Britta, Reuter, Peggy, Baere, Elfride, Wissinger, Bernd, Kohl, Susanne
Published in Human mutation (01.11.2017)
Published in Human mutation (01.11.2017)
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Journal Article
Vulnerability of frontal brain neurons for the toxicity of expanded ataxin-3
Schmidt, Jana, Mayer, Anja K, Bakula, Daniela, Freude, Jasmin, Weber, Jonasz J, Weiss, Andreas, Riess, Olaf, Schmidt, Thorsten
Published in Human molecular genetics (01.05.2019)
Published in Human molecular genetics (01.05.2019)
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Journal Article
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
Mayer, Anja K, Mahajnah, Muhammad, Thomas, Mervyn G, Cohen, Yuval, Habib, Adib, Schulze, Martin, Maconachie, Gail D E, AlMoallem, Basamat, De Baere, Elfride, Lorenz, Birgit, Traboulsi, Elias I, Kohl, Susanne, Azem, Abdussalam, Bauer, Peter, Gottlob, Irene, Sharkia, Rajech, Wissinger, Bernd
Published in Brain (London, England : 1878) (01.06.2019)
Published in Brain (London, England : 1878) (01.06.2019)
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Journal Article
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing
Weisschuh, Nicole, Mayer, Anja K, Strom, Tim M, Kohl, Susanne, Glöckle, Nicola, Schubach, Max, Andreasson, Sten, Bernd, Antje, Birch, David G, Hamel, Christian P, Heckenlively, John R, Jacobson, Samuel G, Kamme, Christina, Kellner, Ulrich, Kunstmann, Erdmute, Maffei, Pietro, Reiff, Charlotte M, Rohrschneider, Klaus, Rosenberg, Thomas, Rudolph, Günther, Vámos, Rita, Varsányi, Balázs, Weleber, Richard G, Wissinger, Bernd
Published in PloS one (14.01.2016)
Published in PloS one (14.01.2016)
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Journal Article
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy
Burkard, Markus, Kohl, Susanne, Krätzig, 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, Charbel Issa, Peter, Koenekoop, Robert K, Rudolph, Günther, Heckenlively, John, Sieving, Paul, Weleber, Richard G, Hamel, Christian, Zong, Xiangang, Biel, Martin, Lukowski, Robert, Seeliger, Matthias W, Michalakis, Stylianos, Wissinger, Bernd, Ruth, Peter
Published in The Journal of clinical investigation (01.12.2018)
Published in The Journal of clinical investigation (01.12.2018)
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Journal Article
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
Van Schil, Kristof, Naessens, Sarah, Van de Sompele, Stijn, Carron, Marjolein, Aslanidis, Alexander, Van Cauwenbergh, Caroline, Mayer, Anja K, Van Heetvelde, Mattias, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke, Greenberg, Michael E, Yang, Marty G, Karlstetter, Marcus, Langmann, Thomas, De Preter, Katleen, Kohl, Susanne, Cherry, Timothy J, Leroy, Bart P, De Baere, Elfride
Published in Genetics in medicine (01.02.2018)
Published in Genetics in medicine (01.02.2018)
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Journal Article
Differential Recognition of TLR-Dependent Microbial Ligands in Human Bronchial Epithelial Cells
Mayer, Anja K, Muehmer, Mario, Mages, Jorg, Gueinzius, Katja, Hess, Christian, Heeg, Klaus, Bals, Robert, Lang, Roland, Dalpke, Alexander H
Published in Journal of Immunology (01.03.2007)
Published in Journal of Immunology (01.03.2007)
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Journal Article
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority
Mayer, Anja K, Balousha, Ghassan, Sharkia, Rajech, Mahajnah, Muhammad, Ayesh, Suhail, Schulze, Martin, Buchert, Rebecca, Zobor, Ditta, Azem, Abdussalam, Schöls, Ludger, Bauer, Peter, Wissinger, Bernd
Published in European journal of human genetics : EJHG (01.06.2020)
Published in European journal of human genetics : EJHG (01.06.2020)
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Journal Article
Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
Van Schil, Kristof, Naessens, Sarah, Van de Sompele, Stijn, Carron, Marjolein, Aslanidis, Alexander, Van Cauwenbergh, Caroline, Mayer, Anja K., Van Heetvelde, Mattias, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke, Greenberg, Michael E., Yang, Marty G., Karlstetter, Marcus, Langmann, Thomas, De Preter, Katleen, Kohl, Susanne, Cherry, Timothy J., Leroy, Bart P., De Baere, Elfride
Published in Genetics in medicine (01.08.2019)
Published in Genetics in medicine (01.08.2019)
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Journal Article
Targeting mammary epithelial cells using a bacterial artificial chromosome
Wintermantel, Tim M., Mayer, Anja K., Schütz, Günther, Greiner, Erich F.
Published in Genesis (New York, N.Y. : 2000) (01.07.2002)
Published in Genesis (New York, N.Y. : 2000) (01.07.2002)
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Journal Article
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel\textendashassociated retinopathy
Burkard, Markus, Kohl, Susanne, Krätzig, 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, Charbel Issa, Peter, Koenekoop, Robert K., Rudolph, Günther, Heckenlively, John, Sieving, Paul, Weleber, Richard G., Hamel, Christian, Zong, Xiangang, Biel, Martin, Lukowski, Robert, Seeliger, Matthias W., Michalakis, Stylianos, Wissinger, Bernd, Ruth, Peter
Published in The Journal of clinical investigation (2018)
Published in The Journal of clinical investigation (2018)
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Journal Article
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing: e0145951
Weisschuh, Nicole, Mayer, Anja K, Strom, Tim M, Kohl, Susanne, Glockle, Nicola, Schubach, Max, Andreasson, Sten, Bernd, Antje, Birch, David G, Hamel, Christian P
Published in PloS one (01.01.2016)
Published in PloS one (01.01.2016)
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