Restored physiology in protein-deficient yeast by a small molecule channel

অনুযায়ী Cioffi, Alexander G., Hou, Jennifer, Grillo, Anthony S., Diaz, Katrina A., Burke, Martin D.
প্রকাশিত J Am Chem Soc (2015)

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

অনুযায়ী Halbritter, Jan, Porath, Jonathan D., Diaz, Katrina A., Braun, Daniela A., Kohl, Stefan, Chaki, Moumita, Allen, Susan J., Soliman, Neveen A., Hildebrandt, Friedhelm, Otto, Edgar A.
প্রকাশিত Hum Genet (2013)

Amphotericin forms an extramembranous and fungicidal sterol sponge

অনুযায়ী Anderson, Thomas M., Clay, Mary C., Cioffi, Alexander G., Diaz, Katrina A., Hisao, Grant S., Tuttle, Marcus D., Nieuwkoop, Andrew J., Comellas, Gemma, Maryum, Nashrah, Wang, Shu, Uno, Brice E., Wildeman, Erin L., Gonen, Tamir, Rienstra, Chad M., Burke, Martin D.
প্রকাশিত 2014

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

অনুযায়ী Gee, Heon Yung, Saisawat, Pawaree, Ashraf, Shazia, Hurd, Toby W., Vega-Warner, Virginia, Fang, Humphrey, Beck, Bodo B., Gribouval, Olivier, Zhou, Weibin, Diaz, Katrina A., Natarajan, Sivakumar, Wiggins, Roger C., Lovric, Svjetlana, Chernin, Gil, Schoeb, Dominik S., Ovunc, Bugsu, Frishberg, Yaacov, Soliman, Neveen A., Fathy, Hanan M., Goebel, Heike, Hoefele, Julia, Weber, Lutz T., Innis, Jeffrey W., Faul, Christian, Han, Zhe, Washburn, Joseph, Antignac, Corinne, Levy, Shawn, Otto, Edgar A., Hildebrandt, Friedhelm
প্রকাশিত 2013

Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

অনুযায়ী Gee, Heon Yung, Otto, Edgar A., Hurd, Toby W., Ashraf, Shazia, Chaki, Moumita, Cluckey, Andrew, Vega-Warner, Virginia, Saisawat, Pawaree, Diaz, Katrina A., Fang, Humphrey, Kohl, Stefan, Allen, Susan J., Airik, Rannar, Zhou, Weibin, Ramaswami, Gokul, Janssen, Sabine, Fu, Clementine, Innis, Jamie L., Weber, Stefanie, Vester, Udo, Davis, Erica E., Katsanis, Nicholas, Fathy, Hanan M., Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A., Attrach, Ibrahim Al, Hassoun, Ibrahim Al, Ozturk, Savas, Drozdz, Dorota, Helmchen, Udo, O’Toole, John F., Attanasio, Massimo, Nürnberg, Gudrun, Nürnberg, Peter, Washburn, Joseph, MacDonald, James, James, Jeffrey W., Levy, Shawn, Hildebrandt, Friedhelm
প্রকাশিত 2013

Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms

অনুযায়ী Knowles, Michael R., Ostrowski, Lawrence E., Loges, Niki T., Hurd, Toby, Leigh, Margaret W., Huang, Lu, Wolf, Whitney E., Carson, Johnny L., Hazucha, Milan J., Yin, Weining, Davis, Stephanie D., Dell, Sharon D., Ferkol, Thomas W., Sagel, Scott D., Olivier, Kenneth N., Jahnke, Charlotte, Olbrich, Heike, Werner, Claudius, Raidt, Johanna, Wallmeier, Julia, Pennekamp, Petra, Dougherty, Gerard W., Hjeij, Rim, Gee, Heon Yung, Otto, Edgar A., Halbritter, Jan, Chaki, Moumita, Diaz, Katrina A., Braun, Daniela A., Porath, Jonathan D., Schueler, Markus, Baktai, György, Griese, Matthias, Turner, Emily H., Lewis, Alexandra P., Bamshad, Michael J., Nickerson, Deborah A., Hildebrandt, Friedhelm, Shendure, Jay, Omran, Heymut, Zariwala, Maimoona A.
প্রকাশিত 2013

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

অনুযায়ী Austin-Tse, Christina, Halbritter, Jan, Zariwala, Maimoona A., Gilberti, Renée M., Gee, Heon Yung, Hellman, Nathan, Pathak, Narendra, Liu, Yan, Panizzi, Jennifer R., Patel-King, Ramila S., Tritschler, Douglas, Bower, Raqual, O’Toole, Eileen, Porath, Jonathan D., Hurd, Toby W., Chaki, Moumita, Diaz, Katrina A., Kohl, Stefan, Lovric, Svjetlana, Hwang, Daw-Yang, Braun, Daniela A., Schueler, Markus, Airik, Rannar, Otto, Edgar A., Leigh, Margaret W., Noone, Peadar G., Carson, Johnny L., Davis, Stephanie D., Pittman, Jessica E., Ferkol, Thomas W., Atkinson, Jeffry J., Olivier, Kenneth N., Sagel, Scott D., Dell, Sharon D., Rosenfeld, Margaret, Milla, Carlos E., Loges, Niki T., Omran, Heymut, Porter, Mary E., King, Stephen M., Knowles, Michael R., Drummond, Iain A., Hildebrandt, Friedhelm
প্রকাশিত 2013

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

অনুযায়ী Zariwala, Maimoona A., Gee, Heon Yung, Kurkowiak, Małgorzata, Al-Mutairi, Dalal A., Leigh, Margaret W., Hurd, Toby W., Hjeij, Rim, Dell, Sharon D., Chaki, Moumita, Dougherty, Gerard W., Adan, Mohamed, Spear, Philip C., Esteve-Rudd, Julian, Loges, Niki T., Rosenfeld, Margaret, Diaz, Katrina A., Olbrich, Heike, Wolf, Whitney E., Sheridan, Eamonn, Batten, Trevor F.C., Halbritter, Jan, Porath, Jonathan D., Kohl, Stefan, Lovric, Svjetlana, Hwang, Daw-Yang, Pittman, Jessica E., Burns, Kimberlie A., Ferkol, Thomas W., Sagel, Scott D., Olivier, Kenneth N., Morgan, Lucy C., Werner, Claudius, Raidt, Johanna, Pennekamp, Petra, Sun, Zhaoxia, Zhou, Weibin, Airik, Rannar, Natarajan, Sivakumar, Allen, Susan J., Amirav, Israel, Wieczorek, Dagmar, Landwehr, Kerstin, Nielsen, Kim, Schwerk, Nicolaus, Sertic, Jadranka, Köhler, Gabriele, Washburn, Joseph, Levy, Shawn, Fan, Shuling, Koerner-Rettberg, Cordula, Amselem, Serge, Williams, David S., Mitchell, Brian J., Drummond, Iain A., Otto, Edgar A., Omran, Heymut, Knowles, Michael R., Hildebrandt, Friedhelm
প্রকাশিত 2013