Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family

по Zobor, Ditta, Balousha, Ghassan, Baumann, Britta, Wissinger, Bernd
Опубликовано 2014

Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia

по Matet, Alexandre, Kohl, Susanne, Baumann, Britta, Antonio, Aline, Mohand-Said, Saddek, Sahel, José-Alain, Audo, Isabelle
Опубликовано в: Sci Rep (2018)

Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia

по Kohl, Susanne, Baumann, Britta, Rosenberg, Thomas, Kellner, Ulrich, Lorenz, Birgit, Vadalà, Maria, Jacobson, Samuel G., Wissinger, Bernd
Опубликовано 2002

Five novel CNGB3 gene mutations in Polish patients with achromatopsia

по Wawrocka, Anna, Kohl, Susanne, Baumann, Britta, Walczak-Sztulpa, Joanna, Wicher, Katarzyna, Skorczyk-Werner, Anna, Krawczynski, Maciej R.
Опубликовано в: Mol Vis (2014)

Spectral-Domain Optical Coherence Tomography Staging and Autofluorescence Imaging in Achromatopsia

по Greenberg, Jonathan P., Sherman, Jerome, Zweifel, Sandrine A., Chen, Royce W. S., Duncker, Tobias, Kohl, Susanne, Baumann, Britta, Wissinger, Bernd, Yannuzzi, Lawrence A., Tsang, Stephen H.
Опубликовано в: JAMA Ophthalmol (2014)

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

по Chang, Bo, Grau, Tanja, Dangel, Susann, Hurd, Ron, Jurklies, Bernhard, Sener, E. Cumhur, Andreasson, Sten, Dollfus, Helene, Baumann, Britta, Bolz, Sylvia, Artemyev, Nikolai, Kohl, Susanne, Heckenlively, John, Wissinger, Bernd
Опубликовано 2009

Multiexon deletion alleles of ATF6 linked to achromatopsia

по Lee, Eun-Jin, Chiang, Wei-Chieh Jerry, Kroeger, Heike, Bi, Chloe Xiaoke, Chao, Daniel L., Skowronska-Krawczyk, Dorota, Mastey, Rebecca R., Tsang, Stephen H., Chea, Leon, Kim, Kyle, Lambert, Scott R., Grandjean, Julia M.D., Baumann, Britta, Audo, Isabelle, Kohl, Susanne, Moore, Anthony T., Wiseman, R. Luke, Carroll, Joseph, Lin, Jonathan H.
Опубликовано в: JCI Insight (2020)

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin

по Ravesh, Zeinab, El Asrag, Mohammed E., Weisschuh, Nicole, McKibbin, Martin, Reuter, Peggy, Watson, Christopher M., Baumann, Britta, Poulter, James A., Sajid, Sundus, Panagiotou, Evangelia S., O’Sullivan, James, Abdelhamed, Zakia, Bonin, Michael, Soltanifar, Mehdi, Black, Graeme C.M., Din, Muhammad Amin-ud, Toomes, Carmel, Ansar, Muhammad, Inglehearn, Chris F., Wissinger, Bernd, Ali, Manir
Опубликовано в: Mol Vis (2015)

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

по Buena-Atienza, Elena, Rüther, 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
Опубликовано в: Sci Rep (2016)

Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

по Weisschuh, Nicole, Sturm, Marc, Baumann, Britta, Audo, Isabelle, Ayuso, Carmen, Bocquet, Beatrice, Branham, Kari, Brooks, Brian P., Catalá-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, Günther, Sharon, Dror, Stingl, Katarina, Streubel, Berthold, Varsányi, Balázs, Wissinger, Bernd, Kohl, Susanne
Опубликовано в: Hum Mutat (2019)

Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy

по 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
Опубликовано в: J Clin Invest (2018)