Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
Olbrich, Heike, Cremers, Carolin, Loges, Niki T., Werner, Claudius, Nielsen, Kim G., Marthin, June K., Philipsen, Maria, Wallmeier, Julia, Pennekamp, Petra, Menchen, Tabea, Edelbusch, Christine, Dougherty, Gerard W., Schwartz, Oliver, Thiele, Holger, Altmüller, Janine, Rommelmann, Frank, Omran, Heymut
Published in American journal of human genetics (01.10.2015)
Published in American journal of human genetics (01.10.2015)
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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
OLBRICH, Heike, SCHMIDTS, Miriam, HURLES, Matthew E, CONSORTIUM, Ukk, KÖHLER, Gabriele, SCHROEDER, Josef, NÜRNBERG, Gudrun, NÜRNBERG, Peter, CHUNG, Eddie M. K, REINHARDT, Richard, MARTHIN, June K, NIELSEN, Kim G, WERNER, Claudius, MITCHISON, HannahM, OMRAN, Heymut, ONOUFRIADIS, Alexandros, LOGES, Niki T, RAIDT, Johanna, FANNI BANKI, Nora, SHOEMARK, Amelia, BURGOYNE, Tom, AL TURKI, Saeed
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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Journal Article
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system
Aprea, Isabella, Nöthe-Menchen, Tabea, Dougherty, Gerard W, Raidt, Johanna, Loges, Niki T, Kaiser, Thomas, Wallmeier, Julia, Olbrich, Heike, Strünker, Timo, Kliesch, Sabine, Pennekamp, Petra, Omran, Heymut
Published in Molecular human reproduction (27.02.2021)
Published in Molecular human reproduction (27.02.2021)
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Journal Article
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
Loges, Niki T., Antony, Dinu, Maver, Ales, Deardorff, Matthew A., Güleç, Elif Yýlmaz, Gezdirici, Alper, Nöthe-Menchen, Tabea, Höben, Inga M., Jelten, Lena, Frank, Diana, Werner, Claudius, Tebbe, Johannes, Wu, Kaman, Goldmuntz, Elizabeth, Čuturilo, Goran, Krock, Bryan, Ritter, Alyssa, Hjeij, Rim, Bakey, Zeineb, Pennekamp, Petra, Dworniczak, Bernd, Brunner, Han, Peterlin, Borut, Tanidir, Cansaran, Olbrich, Heike, Omran, Heymut, Schmidts, Miriam
Published in American journal of human genetics (06.12.2018)
Published in American journal of human genetics (06.12.2018)
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Journal Article
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia
RAIDT, Johanna, WALLMEIER, Julia, WERNER, Claudius, HJEIJ, Rim, ONNEBRINK, Jörg Grosse, PENNEKAMP, Petra, LOGES, Niki T, OLBRICH, Heike, HÄFFNER, Karsten, DOUGHERTY, Gerard W, OMRAN, Heymut
Published in The European respiratory journal (01.12.2014)
Published in The European respiratory journal (01.12.2014)
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Journal Article
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry
Wallmeier, Julia, Frank, Diana, Shoemark, Amelia, Nöthe-Menchen, Tabea, Cindric, Sandra, Olbrich, Heike, Loges, Niki T., Aprea, Isabella, Dougherty, Gerard W., Pennekamp, Petra, Kaiser, Thomas, Mitchison, Hannah M., Hogg, Claire, Carr, Siobhán B., Zariwala, Maimoona A., Ferkol, Thomas, Leigh, Margaret W., Davis, Stephanie D., Atkinson, Jeffrey, Dutcher, Susan K., Knowles, Michael R., Thiele, Holger, Altmüller, Janine, Krenz, Henrike, Wöste, Marius, Brentrup, Angela, Ahrens, Frank, Vogelberg, Christian, Morris-Rosendahl, Deborah J., Omran, Heymut
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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Journal Article
TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
Wallmeier, Julia, Shiratori, Hidetaka, Dougherty, Gerard W., Edelbusch, Christine, Hjeij, Rim, Loges, Niki T., Menchen, Tabea, Olbrich, Heike, Pennekamp, Petra, Raidt, Johanna, Werner, Claudius, Minegishi, Katsura, Shinohara, Kyosuke, Asai, Yasuko, Takaoka, Katsuyoshi, Lee, Chanjae, Griese, Matthias, Memari, Yasin, Durbin, Richard, Kolb-Kokocinski, Anja, Sauer, Sascha, Wallingford, John B., Hamada, Hiroshi, Omran, Heymut
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Journal Article
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans
Wirschell, Maureen, Olbrich, Heike, Werner, Claudius, Tritschler, Douglas, Bower, Raqual, Sale, Winfield S, Loges, Niki T, Pennekamp, Petra, Lindberg, Sven, Stenram, Unne, Carlén, Birgitta, Horak, Elisabeth, Köhler, Gabriele, Nürnberg, Peter, Nürnberg, Gudrun, Porter, Mary E, Omran, Heymut
Published in Nature genetics (01.03.2013)
Published in Nature genetics (01.03.2013)
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Journal Article
DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes
Dougherty, Gerard W, Loges, Niki T, Klinkenbusch, Judith A, Olbrich, Heike, Pennekamp, Petra, Menchen, Tabea, Raidt, Johanna, Wallmeier, Julia, Werner, Claudius, Westermann, Cordula, Ruckert, Christian, Mirra, Virginia, Hjeij, Rim, Memari, Yasin, Durbin, Richard, Kolb-Kokocinski, Anja, Praveen, Kavita, Kashef, Mohammad A, Kashef, Sara, Eghtedari, Fardin, Häffner, Karsten, Valmari, Pekka, Baktai, György, Aviram, Micha, Bentur, Lea, Amirav, Israel, Davis, Erica E, Katsanis, Nicholas, Brueckner, Martina, Shaposhnykov, Artem, Pigino, Gaia, Dworniczak, Bernd, Omran, Heymut
Published in American journal of respiratory cell and molecular biology (01.08.2016)
Published in American journal of respiratory cell and molecular biology (01.08.2016)
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Journal Article
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects
Paff, Tamara, Loges, Niki T., Aprea, Isabella, Wu, Kaman, Bakey, Zeineb, Haarman, Eric G., Daniels, Johannes M.A., Sistermans, Erik A., Bogunovic, Natalija, Dougherty, Gerard W., Höben, Inga M., Große-Onnebrink, Jörg, Matter, Anja, Olbrich, Heike, Werner, Claudius, Pals, Gerard, Schmidts, Miriam, Omran, Heymut, Micha, Dimitra
Published in American journal of human genetics (05.01.2017)
Published in American journal of human genetics (05.01.2017)
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Journal Article
CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
Hjeij, Rim, Onoufriadis, Alexandros, Watson, Christopher M., Slagle, Christopher E., Klena, Nikolai T., Dougherty, Gerard W., Kurkowiak, Małgorzata, Loges, Niki T., Diggle, Christine P., Morante, Nicholas F.C., Gabriel, George C., Lemke, Kristi L., Li, You, Pennekamp, Petra, Menchen, Tabea, Konert, Franziska, Marthin, June Kehlet, Mans, Dorus A., Letteboer, Stef J.F., Werner, Claudius, Burgoyne, Thomas, Westermann, Cordula, Rutman, Andrew, Carr, Ian M., O’Callaghan, Christopher, Moya, Eduardo, Chung, Eddie M.K., Sheridan, Eamonn, Nielsen, Kim G., Roepman, Ronald, Bartscherer, Kerstin, Burdine, Rebecca D., Lo, Cecilia W., Omran, Heymut, Mitchison, Hannah M.
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
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Journal Article
Ciliary function and motor protein composition of human fallopian tubes
Raidt, Johanna, Werner, Claudius, Menchen, Tabea, Dougherty, Gerard W., Olbrich, Heike, Loges, Niki T., Schmitz, Ralf, Pennekamp, Petra, Omran, Heymut
Published in Human reproduction (Oxford) (01.12.2015)
Published in Human reproduction (Oxford) (01.12.2015)
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Journal Article
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation
Niswander, Lee, Omran, Heymut, Burdine, Rebecca D, Becker-Heck, Anita, Zohn, Irene E, Okabe, Noriko, Pollock, Andrew, Lenhart, Kari Baker, Sullivan-Brown, Jessica, McSheene, Jason, Loges, Niki T, Olbrich, Heike, Haeffner, Karsten, Fliegauf, Manfred, Horvath, Judith, Reinhardt, Richard, Nielsen, Kim G, Marthin, June K, Baktai, Gyorgy, Anderson, Kathryn V, Geisler, Robert
Published in Nature genetics (01.01.2011)
Published in Nature genetics (01.01.2011)
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Journal Article
Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect
Edelbusch, Christine, Cindrić, Sandra, Dougherty, Gerard W., Loges, Niki T., Olbrich, Heike, Rivlin, Joseph, Wallmeier, Julia, Pennekamp, Petra, Amirav, Israel, Omran, Heymut
Published in Human mutation (01.08.2017)
Published in Human mutation (01.08.2017)
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Journal Article
ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry
Hjeij, Rim, Lindstrand, Anna, Francis, Richard, Zariwala, Maimoona A., Liu, Xiaoqin, Li, You, Damerla, Rama, Dougherty, Gerard W., Abouhamed, Marouan, Olbrich, Heike, Loges, Niki T., Pennekamp, Petra, Davis, Erica E., Carvalho, Claudia M.B., Pehlivan, Davut, Werner, Claudius, Raidt, Johanna, Köhler, Gabriele, Häffner, Karsten, Reyes-Mugica, Miguel, Lupski, James R., Leigh, Margaret W., Rosenfeld, Margaret, Morgan, Lucy C., Knowles, Michael R., Lo, Cecilia W., Katsanis, Nicholas, Omran, Heymut
Published in American journal of human genetics (08.08.2013)
Published in American journal of human genetics (08.08.2013)
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Journal Article
Preventive Cancer Screening in Asian Americans: Need for Community Outreach Programs
Wu, Gregory, Augustine, Niki T, Kwon, Steve Sung
Published in Asian Pacific journal of cancer prevention : APJCP (01.02.2022)
Published in Asian Pacific journal of cancer prevention : APJCP (01.02.2022)
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Journal Article
The BEAT-PCD (Better Experimental Approaches to Treat Primary Ciliary Dyskinesia) Clinical Research Collaboration
Goutaki, Myrofora, Crowley, Suzanne, Dehlink, Eleonora, Gaupmann, René, Horton, Katie L, Kouis, Panayiotis, Lam, Yin Ting, Loges, Niki T, Lucas, Jane S, Roehmel, Jobst F, Shoemark, Amelia
Published in The European respiratory journal (01.02.2021)
Published in The European respiratory journal (01.02.2021)
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Journal Article
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
Mitchison, Hannah M, Schmidts, Miriam, Loges, Niki T, Freshour, Judy, Dritsoula, Athina, Hirst, Rob A, O'Callaghan, Christopher, Blau, Hannah, Al Dabbagh, Maha, Olbrich, Heike, Beales, Philip L, Yagi, Toshiki, Mussaffi, Huda, Chung, Eddie M K, Omran, Heymut, Mitchell, David R
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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Journal Article
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects
Frommer, Adrien, Hjeij, Rim, Loges, Niki T, Edelbusch, Christine, Jahnke, Charlotte, Raidt, Johanna, Werner, Claudius, Wallmeier, Julia, Große-Onnebrink, Jörg, Olbrich, Heike, Cindrić, Sandra, Jaspers, Martine, Boon, Mieke, Memari, Yasin, Durbin, Richard, Kolb-Kokocinski, Anja, Sauer, Sascha, Marthin, June K, Nielsen, Kim G, Amirav, Israel, Elias, Nael, Kerem, Eitan, Shoseyov, David, Haeffner, Karsten, Omran, Heymut
Published in American journal of respiratory cell and molecular biology (01.10.2015)
Published in American journal of respiratory cell and molecular biology (01.10.2015)
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