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Journal Article
Beck, Bodo B., Phillips, Jennifer B., Bartram, Melte P., Wegner, Jeremy, Thoenes, Michaele, Pannes, Andrea, Sampson, Josephina, Heller, Raoul, Goebel, Heike, Koerber, Friederike, Neugebauer, Antje, Hedergott, Andrea, Nuernberg, Gudrun, Nuernberg, Peter, Thiele, Holger, Altmueller, Janine, Toliat, Mohammad R., Staubach, Simon, Boycott, Kym M., Valente, Enza Maria ORCID: 0000-0002-0600-6820, Janecke, Andreas R., Eisenberger, Tobias, Bergmann, Carsten, Tebbe, Lars, Wang, Yang, Wu, Yundong, Fry, Andrew M., Westerfield, Monte, Wolfrum, Uwe and Bolz, Hanno J.
(2014).
Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy.
Hum. Mutat., 35 (10).
S. 1153 - 1163.
HOBOKEN:
WILEY.
ISSN 1098-1004
Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Tebbe, Lars, Spier, Isabel, Mueller, Philipp, Holz, Frank G., Neuhaus, Christine, Wolfrum, Uwe, Bolz, Hanno J. and Issa, Peter Charbel (2017). Novel insights in KIF11-related retinopathy. Invest. Ophthalmol. Vis. Sci., 58 (8). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783
Karlstetter, Marcus, Sorusch, Nasrin, Caramoy, Albert, Dannhausen, Katharina, Aslanidis, Alexander, Fauser, Sascha, Boesl, Michael R., Nagel-Wolfrum, Kerstin, Tamm, Ernst R., Jaegle, Herbert, Stoehr, Heidi, Wolfrum, Uwe and Langmann, Thomas (2014). Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration. Hum. Mol. Genet., 23 (19). S. 5197 - 5211. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083
Khan, Arif O., Eisenberger, Tobias, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe and Bolz, Hanno J. (2015). C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium. Br. J. Ophthalmol., 99 (12). S. 1725 - 1732. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-2079
Stephen, Louise A., Tawamie, Hasan, Davis, Gemma M., Tebbe, Lars, Nuernberg, Peter, Nuernberg, Gudrun, Thiele, Holger, Thoenes, Michaela, Boltshauser, Eugen, Uebe, Steffen, Rompel, Oliver, Reis, Andre ORCID: 0000-0002-6301-6363, Ekici, Arif B., McTeir, Lynn, Fraser, Amy M., Hall, Emma A., Mill, Pleasantine
ORCID: 0000-0001-5218-134X, Daudet, Nicolas
ORCID: 0000-0002-4039-4716, Cross, Courtney
ORCID: 0000-0001-5345-9614, Wolfrum, Uwe, Abou Jamra, Rami, Davey, Megan G. and Bolz, Hanno J.
(2015).
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
eLife, 4.
CAMBRIDGE:
ELIFE SCIENCES PUBLICATIONS LTD.
ISSN 2050-084X
Zach, Frank ORCID: 0000-0003-1168-8106, Grassmann, Felix
ORCID: 0000-0003-1390-7528, Langmann, Thomas, Sorusch, Nasrin, Wolfrum, Uwe and Stoehr, Heidi
(2012).
The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association.
Hum. Mol. Genet., 21 (21).
S. 4573 - 4587.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
Zaki, Maha S., Heller, Raoul, Thoenes, Michaela, Nuernberg, Gudrun, Stern-Schneider, Gabi, Nuernberg, Peter, Karnati, Srikanth ORCID: 0000-0001-9083-2916, Swan, Daniel
ORCID: 0000-0001-8978-8129, Fateen, Ekram
ORCID: 0000-0002-0777-0417, Nagel-Wolfrum, Kerstin, Mostafa, Mostafa I., Thiele, Holger, Wolfrum, Uwe, Baumgart-Vogt, Eveline
ORCID: 0000-0002-8265-3763 and Bolz, Hanno J.
(2016).
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
Hum. Mutat., 37 (2).
S. 170 - 175.
HOBOKEN:
WILEY.
ISSN 1098-1004
van Dam, Teunis J. P., Kennedy, Julie, van der Lee, Robin ORCID: 0000-0001-7391-9438, de Vrieze, Erik
ORCID: 0000-0003-3448-3269, Wunderlich, Kirsten A., Rix, Suzanne, Dougherty, Gerard W., Lambacher, Nils J., Li, Chunmei, Jensen, Victor L., Leroux, Michel R., Hjeij, Rim, Horn, Nicola, Texier, Yves, Wissinger, Yasmin, van Reeuwijk, Jeroen, Wheway, Gabrielle
ORCID: 0000-0002-0494-0783, Knapp, Barbara, Scheel, Jan F., Franco, Brunella, Mans, Dorus A., van Wijk, Erwin, Kepes, Francois, Slaats, Gisela G., Toedt, Grischa, Kremer, Hannie
ORCID: 0000-0002-0841-8693, Omran, Heymut, Szymanska, Katarzyna, Koutroumpas, Konstantinos, Ueffing, Marius, Nguyen, Thanh-Minh T., Letteboer, Stef J. F., Oud, Machteld M., van Beersum, Sylvia E. C., Schmidts, Miriam
ORCID: 0000-0002-1714-6749, Beales, Philip L., Lu, Qianhao, Giles, Rachel H., Szklarczyk, Radek, Russell, Robert B., Gibson, Toby J., Johnson, Colin A., Blacque, Oliver E., Wolfrum, Uwe, Boldt, Karsten, Roepman, Ronald
ORCID: 0000-0002-5178-8163, Hernandez-Hernandez, Victor and Huynen, Martijn A.
(2019).
CiliaCarta: An integrated and validated compendium of ciliary genes.
PLoS One, 14 (5).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1932-6203