Heat-Labile Serotyping of Two Campylobacter jejuni Strains Isolated from Patients with Guillain-Barré Syndrome and Belonging to Serotype O19 (Penner)

Por Tsang, Raymond S. W., Frosk, Patrick, Johnson, Wendy M.
Publicado em 2000

Limb-Girdle Muscular Dystrophy Type 2H Associated with Mutation in TRIM32, a Putative E3-Ubiquitin–Ligase Gene

Por Frosk, Patrick, Weiler, Tracey, Nylen, Edward, Sudha, Thangirala, Greenberg, Cheryl R., Morgan, Kenneth, Fujiwara, T. Mary, Wrogemann, Klaus
Publicado em 2002

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature

Por Frosk, Patrick, Chodirker, Bernard, Simard, Louise, El-Matary, Wael, Hanlon-Dearman, Ana, Schwartzentruber, Jeremy, Majewski, Jacek, Rockman-Greenberg, Cheryl
Publicado no BMC Med Genet (2015)

Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2

Por Abdelfatah, Nelly, Chen, Ruping, Duff, Henry J., Seifer, Colette M., Buffo, Ilan, Huculak, Cathleen, Clarke, Stephanie, Clegg, Robin, Jassal, Davinder S., Gordon, Paul M.K., Ober, Carole, Frosk, Patrick, Gerull, Brenda
Publicado no JACC Basic Transl Sci (2019)

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

Por Frosk, Patrick, Arts, Heleen H, Philippe, Julien, Gunn, Carter S, Brown, Emma L, Chodirker, Bernard, Simard, Louise, Majewski, Jacek, Fahiminiya, Somayyeh, Russell, Chad, Liu, Yangfan P, Hegele, Robert, Katsanis, Nicholas, Goerz, Conrad, Del Bigio, Marc R, Davis, Erica E
Publicado no J Med Genet (2017)

The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms

Por Boycott, Kym M., Campeau, Philippe M., Howley, Heather E., Pavlidis, Paul, Rogic, Sanja, Oriel, Christine, Berman, Jason N., Hamilton, Robert M., Hicks, Geoffrey G., Lipshitz, Howard D., Masson, Jean-Yves, Shoubridge, Eric. A., Junker, Anne, Leroux, Michel R., McMaster, Christopher R., Michaud, Jaques L., Turvey, Stuart E., Dyment, David, Innes, A. Micheil, van Karnebeek, Clara D., Lehman, Anna, Cohn, Ronald D., MacDonald, Ian M., Rachubinski, Richard A., Frosk, Patrick, Vandersteen, Anthony, Wozniak, Richard W., Pena, Izabella A., Wen, Xiao-Yan, Lacaze-Masmonteil, Thierry, Rankin, Catharine, Hieter, Philip
Publicado no Am J Hum Genet (2020)

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

Por Huang, Lijia, Szymanska, Katarzyna, Jensen, Victor L., Janecke, Andreas R., Innes, A. Micheil, Davis, Erica E., Frosk, Patrick, Li, Chunmei, Willer, Jason R., Chodirker, Bernard N., Greenberg, Cheryl R., McLeod, D. Ross, Bernier, Francois P., Chudley, Albert E., Müller, Thomas, Shboul, Mohammad, Logan, Clare V., Loucks, Catrina M., Beaulieu, Chandree L., Bowie, Rachel V., Bell, Sandra M., Adkins, Jonathan, Zuniga, Freddi I., Ross, Kevin D., Wang, Jian, Ban, Matthew R., Becker, Christian, Nürnberg, Peter, Douglas, Stuart, Craft, Cheryl M., Akimenko, Marie-Andree, Hegele, Robert A., Ober, Carole, Utermann, Gerd, Bolz, Hanno J., Bulman, Dennis E., Katsanis, Nicholas, Blacque, Oliver E., Doherty, Dan, Parboosingh, Jillian S., Leroux, Michel R., Johnson, Colin A., Boycott, Kym M.
Publicado em 2011

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Por Wheway, Gabrielle, Schmidts, Miriam, Mans, Dorus A., Szymanska, Katarzyna, Nguyen, Thanh-Minh T., Racher, Hilary, Phelps, Ian G., Toedt, Grischa, Kennedy, Julie, Wunderlich, Kirsten A., Sorusch, Nasrin, Abdelhamed, Zakia A., Natarajan, Subaashini, Herridge, Warren, van Reeuwijk, Jeroen, Horn, Nicola, Boldt, Karsten, Parry, David A., Letteboer, Stef J.F., Roosing, Susanne, Adams, Matthew, Bell, Sandra M., Bond, Jacquelyn, Higgins, Julie, Morrison, Ewan E., Tomlinson, Darren C., Slaats, Gisela G., van Dam, Teunis J. P., Huang, Lijia, Kessler, Kristin, Giessl, Andreas, Logan, Clare V., Boyle, Evan A., Shendure, Jay, Anazi, Shamsa, Aldahmesh, Mohammed, Al Hazzaa, Selwa, Hegele, Robert A., Ober, Carole, Frosk, Patrick, Mhanni, Aizeddin A., Chodirker, Bernard N., Chudley, Albert E., Lamont, Ryan, Bernier, Francois P., Beaulieu, Chandree L., Gordon, Paul, Pon, Richard T., Donahue, Clem, Barkovich, A. James, Wolf, Louis, Toomes, Carmel, Thiel, Christian T., Boycott, Kym M., McKibbin, Martin, Inglehearn, Chris F., Stewart, Fiona, Omran, Heymut, Huynen, Martijn A., Sergouniotis, Panagiotis I., Alkuraya, Fowzan S., Parboosingh, Jillian S., Innes, A Micheil, Willoughby, Colin E., Giles, Rachel H., Webster, Andrew R., Ueffing, Marius, Blacque, Oliver, Gleeson, Joseph G., Wolfrum, Uwe, Beales, Philip L., Gibson, Toby, Doherty, Dan, Mitchison, Hannah M., Roepman, Ronald, Johnson, Colin A.
Publicado no Nat Cell Biol (2015)