IFT27 Links the BBSome to IFT for Maintenance of the Ciliary Signaling Compartment
Eguether, Thibaut, San Agustin, Jovenal T., Keady, Brian T., Jonassen, Julie A., Liang, Yinwen, Francis, Richard, Tobita, Kimimasa, Johnson, Colin A., Abdelhamed, Zakia A., Lo, Cecilia W., Pazour, Gregory J.
Published in Developmental cell (10.11.2014)
Published in Developmental cell (10.11.2014)
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Mutations in TJP2 cause progressive cholestatic liver disease
Sambrotta, Melissa, Strautnieks, Sandra, Papouli, Efterpi, Rushton, Peter, Clark, Barnaby E, Parry, David A, Logan, Clare V, Newbury, Lucy J, Kamath, Binita M, Ling, Simon, Grammatikopoulos, Tassos, Wagner, Bart E, Magee, John C, Sokol, Ronald J, Mieli-Vergani, Giorgina, Smith, Joshua D, Johnson, Colin A, McClean, Patricia, Simpson, Michael A, Knisely, A S, Bull, Laura N, Thompson, Richard J
Published in Nature genetics (01.04.2014)
Published in Nature genetics (01.04.2014)
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Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte
Parry, David A., Logan, Clare V., Hayward, Bruce E., Shires, Michael, Landolsi, Hanène, Diggle, Christine, Carr, Ian, Rittore, Cécile, Touitou, Isabelle, Philibert, Laurent, Fisher, Rosemary A., Fallahian, Masoumeh, Huntriss, John D., Picton, Helen M., Malik, Saghira, Taylor, Graham R., Johnson, Colin A., Bonthron, David T., Sheridan, Eamonn G.
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Journal Article
Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis
Kim, Su Kyoung, Shindo, Asako, Park, Tae Joo, Oh, Edwin C, Ghosh, Srimoyee, Gray, Ryan S, Lewis, Richard A, Johnson, Colin A, Attie-Bittach, Tania, Katsanis, Nicholas, Wallingford, John B
Published in Science (American Association for the Advancement of Science) (10.09.2010)
Published in Science (American Association for the Advancement of Science) (10.09.2010)
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Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain
Logan, Clare V., Cossins, Judith, Rodríguez Cruz, Pedro M., Parry, David A., Maxwell, Susan, Martínez-Martínez, Pilar, Riepsaame, Joey, Abdelhamed, Zakia A., Lake, Alice V.R., Moran, Maria, Robb, Stephanie, Chow, Gabriel, Sewry, Caroline, Hopkins, Philip M., Sheridan, Eamonn, Jayawant, Sandeep, Palace, Jacqueline, Johnson, Colin A., Beeson, David
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia
Makrythanasis, Periklis, Kato, Mitsuhiro, Zaki, Maha S., Saitsu, Hirotomo, Nakamura, Kazuyuki, Santoni, Federico A., Miyatake, Satoko, Nakashima, Mitsuko, Issa, Mahmoud Y., Guipponi, Michel, Letourneau, Audrey, Logan, Clare V., Roberts, Nicola, Parry, David A., Johnson, Colin A., Matsumoto, Naomichi, Hamamy, Hanan, Sheridan, Eamonn, Kinoshita, Taroh, Antonarakis, Stylianos E., Murakami, Yoshiko
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta
Parry, David A., Smith, Claire E.L., El-Sayed, Walid, Poulter, James A., Shore, Roger C., Logan, Clare V., Mogi, Chihiro, Sato, Koichi, Okajima, Fumikazu, Harada, Akihiro, Zhang, Hong, Koruyucu, Mine, Seymen, Figen, Hu, Jan C.-C., Simmer, James P., Ahmed, Mushtaq, Jafri, Hussain, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta
Parry, David A., Poulter, James A., Logan, Clare V., Brookes, Steven J., Jafri, Hussain, Ferguson, Christopher H., Anwari, Babra M., Rashid, Yasmin, Zhao, Haiqing, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.
Published in American journal of human genetics (07.02.2013)
Published in American journal of human genetics (07.02.2013)
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Journal Article
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome
Lambacher, Nils J., Bruel, Ange-Line, van Dam, Teunis J. P., Szymańska, Katarzyna, Slaats, Gisela G., Kuhns, Stefanie, McManus, Gavin J., Kennedy, Julie E., Gaff, Karl, Wu, Ka Man, van der Lee, Robin, Burglen, Lydie, Doummar, Diane, Rivière, Jean-Baptiste, Faivre, Laurence, Attié-Bitach, Tania, Saunier, Sophie, Curd, Alistair, Peckham, Michelle, Giles, Rachel H., Johnson, Colin A., Huynen, Martijn A., Thauvin-Robinet, Christel, Blacque, Oliver E.
Published in Nature cell biology (01.01.2016)
Published in Nature cell biology (01.01.2016)
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Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
Koenekoop, Robert K, Wang, Hui, Majewski, Jacek, Wang, Xia, Lopez, Irma, Ren, Huanan, Chen, Yiyun, Li, Yumei, Fishman, Gerald A, Genead, Mohammed, Schwartzentruber, Jeremy, Solanki, Naimesh, Traboulsi, Elias I, Cheng, Jingliang, Logan, Clare V, McKibbin, Martin, Hayward, Bruce E, Parry, David A, Johnson, Colin A, Nageeb, Mohammed, Poulter, James A, Mohamed, Moin D, Jafri, Hussain, Rashid, Yasmin, Taylor, Graham R, Keser, Vafa, Mardon, Graeme, Xu, Huidan, Inglehearn, Chris F, Fu, Qing, Toomes, Carmel, Chen, Rui
Published in Nature genetics (01.09.2012)
Published in Nature genetics (01.09.2012)
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TCTN3 Mutations Cause Mohr-Majewski Syndrome
Thomas, Sophie, Legendre, Marine, Saunier, Sophie, Bessières, Bettina, Alby, Caroline, Bonnière, Maryse, Toutain, Annick, Loeuillet, Laurence, Szymanska, Katarzyna, Jossic, Frédérique, Gaillard, Dominique, Yacoubi, Mohamed Tahar, Mougou-Zerelli, Soumaya, David, Albert, Barthez, Marie-Anne, Ville, Yves, Bole-Feysot, Christine, Nitschke, Patrick, Lyonnet, Stanislas, Munnich, Arnold, Johnson, Colin A., Encha-Razavi, Férechté, Cormier-Daire, Valérie, Thauvin-Robinet, Christel, Vekemans, Michel, Attié-Bitach, Tania
Published in American journal of human genetics (10.08.2012)
Published in American journal of human genetics (10.08.2012)
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A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency
Parry, David A., PhD, Holmes, Tim D., PhD, Gamper, Nikita, PhD, El-Sayed, Walid, BDS, PhD, Hettiarachchi, Nishani T., PhD, Ahmed, Mushtaq, PhD, Cook, Graham P., PhD, Logan, Clare V., PhD, Johnson, Colin A., PhD, Joss, Shelagh, MRCP, Peers, Chris, PhD, Prescott, Katrina, FRCP, Savic, Sinisa, FRCP, PhD, Inglehearn, Chris F., PhD, Mighell, Alan J., FDSRCS, PhD
Published in Journal of allergy and clinical immunology (01.03.2016)
Published in Journal of allergy and clinical immunology (01.03.2016)
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The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes
Waters, Aoife M, Asfahani, Rowan, Carroll, Paula, Bicknell, Louise, Lescai, Francesco, Bright, Alison, Chanudet, Estelle, Brooks, Anthony, Christou-Savina, Sonja, Osman, Guled, Walsh, Patrick, Bacchelli, Chiara, Chapgier, Ariane, Vernay, Bertrand, Bader, David M, Deshpande, Charu, O’ Sullivan, Mary, Ocaka, Louise, Stanescu, Horia, Stewart, Helen S, Hildebrandt, Friedhelm, Otto, Edgar, Johnson, Colin A, Szymanska, Katarzyna, Katsanis, Nicholas, Davis, Erica, Kleta, Robert, Hubank, Mike, Doxsey, Stephen, Jackson, Andrew, Stupka, Elia, Winey, Mark, Beales, Philip L
Published in Journal of medical genetics (01.03.2015)
Published in Journal of medical genetics (01.03.2015)
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Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1
Szymanska, Katarzyna, Boldt, Karsten, Logan, Clare V, Adams, Matthew, Robinson, Philip A, Ueffing, Marius, Zeqiraj, Elton, Wheway, Gabrielle, Johnson, Colin A
Published in eLife (16.02.2022)
Published in eLife (16.02.2022)
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Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2
Kennedy, Hannah, Haack, Tobias B., Hartill, Verity, Mataković, Lavinija, Baumgartner, E. Regula, Potter, Howard, Mackay, Richard, Alston, Charlotte L., O’Sullivan, Siobhan, McFarland, Robert, Connolly, Grainne, Gannon, Caroline, King, Richard, Mead, Scott, Crozier, Ian, Chan, Wandy, Florkowski, Chris M., Sage, Martin, Höfken, Thomas, Alhaddad, Bader, Kremer, Laura S., Kopajtich, Robert, Feichtinger, René G., Sperl, Wolfgang, Rodenburg, Richard J., Minet, Jean Claude, Dobbie, Angus, Strom, Tim M., Meitinger, Thomas, George, Peter M., Johnson, Colin A., Taylor, Robert W., Prokisch, Holger, Doudney, Kit, Mayr, Johannes A.
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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