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.; Al Attrach, Ibrahim; Al Hassoun, Ibrahim; Ozturk, Savas; Drozdz, Dorota; Helmchen, Udo; O'Toole, John F.; Attanasio, Massimo; Lewis, Richard A.; Nuernberg, Gudrun; Nuernberg, Peter; Washburn, Joseph; MacDonald, James; Innis, Jeffrey W.; Levy, Shawn; Hildebrandt, Friedhelm

Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

IF19.4

2014-03-15184

OAAI

Knowles, Michael R.; Ostrowski, Lawrence E.; Leigh, Margaret W.; Sears, Patrick R.; Davis, Stephanie D.; Wolf, Whitney E.; Hazucha, Milan J.; Carson, Johnny L.; Olivier, Kenneth N.; Sagel, Scott D.; Rosenfeld, Margaret; Ferkol, Thomas W.; Dell, Sharon D.; Milla, Carlos E.; Randell, Scott H.; Yin, Weining; Sannuti, Aruna; Metjian, Hilda M.; Noone, Peadar G.; Noone, Peter J.; Olson, Christina A.; Patrone, Michael V.; Dang, Hong; Lee, Hye-Seung; Hurd, Toby W.; Gee, Heon Yung; Otto, Edgar A.; Halbritter, Jan; Kohl, Stefan; Kircher, Martin; Krischer, Jeffrey; Bamshad, Michael J.; Nickerson, Deborah A.; Hildebrandt, Friedhelm; Shendure, Jay; Zariwala, Maimoona A.

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2013-11-01194

OAAI

Halbritter, Jan; Bizet, Albane A.; Schmidts, Miriam; Porath, Jonathan D.; Braun, Daniela A.; Gee, Heon Yung; McInerney-Leo, Aideen M.; Krug, Pauline; Filhol, Emilie; Davis, Erica E.; Airik, Rannar; Czarnecki, Peter G.; Lehman, Anna M.; Trnka, Peter; Nitschke, Patrick; Bole-Feysot, Christine; Schueler, Markus; Knebelmann, Bertrand; Burtey, Stephane; Szabo, Attila J.; Tory, Kalman; Leo, Paul J.; Gardiner, Brooke; McKenzie, Fiona A.; Zankl, Andreas; Brown, Matthew A.; Hartley, Jane L.; Maher, Eamonn R.; Li, Chunmei; Leroux, Michel R.; Scambler, Peter J.; Zhan, Shing H.; Jones, Steven J.; Kayserili, Hulya; Tuysuz, Beyhan; Moorani, Khemchand N.; Constantinescu, Alexandru; Krantz, Ian D.; Kaplan, Bernard S.; Shah, Jagesh V.; Hurd, Toby W.; Doherty, Dan; Katsanis, Nicholas; Duncan, Emma L.; Otto, Edgar A.; Beales, Philip L.; Mitchison, Hannah M.; Saunier, Sophie; Hildebrandt, Friedhelm

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

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2013-10-01174

OAAI

Austin-Tse, Christina; Halbritter, Jan; Zariwala, Maimoona A.; Gilberti, Renee 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

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

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2013-10-01120

OAAI

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, Gyoergy; Griese, Matthias; Turner, Emily H.; Lewis, Alexandra P.; Bamshad, Michael J.; Nickerson, Deborah A.; Hildebrandt, Friedhelm; Shendure, Jay; Omran, Heymut; Zariwala, Maimoona A.

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2013-08-01156

OAAI

Zariwala, Maimoona A.; Gee, Heon Yung; Kurkowiak, Malgorzata; 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; Koehler, Gabriele; Washburn, Joseph; Levy, Shawn; Fan, Shuling; Koerner-Rettberg, Cordula; Amselem, Serge; Williams, David S.; Mitchell, Brian J.; Drummond, Lain A.; Otto, Edgar A.; Omran, Heymut; Knowles, Michael R.; Hildebrandt, Friedhelm

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

ARHGDIA突变通过RHO GTPase信号传导缺陷导致肾病综合征

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2013-07-08180

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

Ablation of the X-Linked Retinitis Pigmentosa 2 (Rp2) Gene in Mice Results in Opsin Mislocalization and Photoreceptor Degeneration

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2013-07-0248

OAAI

3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide

AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY

IF3.4

2012-10-1518

OAAI

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

NATURE GENETICS

IF31.8

2012-07-08187

OAAI

Zhou, Weibin; Otto, Edgar A.; Cluckey, Andrew; Airik, Rannar; Hurd, Toby W.; Chaki, Moumita; Diaz, Katrina; Lach, Francis P.; Bennett, Geoffrey R.; Gee, Heon Yung; Ghosh, Amiya K.; Natarajan, Sivakumar; Thongthip, Supawat; Veturi, Uma; Allen, Susan J.; Janssen, Sabine; Ramaswami, Gokul; Dixon, Joanne; Burkhalter, Felix; Spoendlin, Martin; Moch, Holger; Mihatsch, Michael J.; Verine, Jerome; Reade, Richard; Soliman, Hany; Godin, Michel; Kiss, Denes; Monga, Guido; Mazzucco, Gianna; Amann, Kerstin; Artunc, Ferruh; Newland, Ronald C.; Wiech, Thorsten; Zschiedrich, Stefan; Huber, Tobias B.; Friedl, Andreas; Slaats, Gisela G.; Joles, Jaap A.; Goldschmeding, Roel; Washburn, Joseph; Giles, Rachel H.; Levy, Shawn; Smogorzewska, Agata; Hildebrandt, Friedhelm

Induction of Ran GTP drives ciliogenesis

MOLECULAR BIOLOGY OF THE CELL

IF2.7

2011-12-0167

OAAI

Toby W. Hurd

个人简介

教育背景

工作经历

荣誉奖项

研究方向