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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Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
Onoufriadis, Alexandros, Paff, Tamara, Antony, Dinu, Shoemark, Amelia, Micha, Dimitra, Kuyt, Bertus, Schmidts, Miriam, Petridi, Stavroula, Dankert-Roelse, Jeanette E., Haarman, Eric G., Daniels, Johannes M.A., Emes, Richard D., Wilson, Robert, Hogg, Claire, Scambler, Peter J., Chung, Eddie M.K., Pals, Gerard, Mitchison, Hannah M.
Published in American journal of human genetics (10.01.2013)
Published in American journal of human genetics (10.01.2013)
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Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry
Omran, Heymut, Olbrich, Heike, Häffner, Karsten, Kispert, Andreas, Völkel, Alexander, Volz, Andreas, Sasmaz, Gürsel, Reinhardt, Richard, Hennig, Steffen, Lehrach, Hans, Konietzko, Nikolaus, Zariwala, Maimoona, Noone, Peadar G, Knowles, Michael, Mitchison, Hannah M, Meeks, Maggie, Chung, Eddie M.K, Hildebrandt, Friedhelm, Sudbrak, Ralf
Published in Nature genetics (01.02.2002)
Published in Nature genetics (01.02.2002)
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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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Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects
Onoufriadis, Alexandros, Shoemark, Amelia, Schmidts, Miriam, Patel, Mitali, Jimenez, Gina, Liu, Hui, Thomas, Biju, Dixon, Mellisa, Hirst, Robert A, Rutman, Andrew, Burgoyne, Thomas, Williams, Christopher, Scully, Juliet, Bolard, Florence, Lafitte, Jean-Jacques, Beales, Philip L, Hogg, Claire, Yang, Pinfen, Chung, Eddie M K, Emes, Richard D, O'Callaghan, Christopher, Bouvagnet, Patrice, Mitchison, Hannah M
Published in Human molecular genetics (01.07.2014)
Published in Human molecular genetics (01.07.2014)
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MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia
Boon, Mieke, Wallmeier, Julia, Ma, Lina, Loges, Niki Tomas, Jaspers, Martine, Olbrich, Heike, Dougherty, Gerard W., Raidt, Johanna, Werner, Claudius, Amirav, Israel, Hevroni, Avigdor, Abitbul, Revital, Avital, Avraham, Soferman, Ruth, Wessels, Marja, O’Callaghan, Christopher, Chung, Eddie M. K., Rutman, Andrew, Hirst, Robert A., Moya, Eduardo, Mitchison, Hannah M., Van Daele, Sabine, De Boeck, Kris, Jorissen, Mark, Kintner, Chris, Cuppens, Harry, Omran, Heymut
Published in Nature communications (22.07.2014)
Published in Nature communications (22.07.2014)
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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
Olcese, Chiara, Patel, Mitali P., Shoemark, Amelia, Kiviluoto, Santeri, Legendre, Marie, Williams, Hywel J., Vaughan, Cara K., Hayward, Jane, Goldenberg, Alice, Emes, Richard D., Munye, Mustafa M., Dyer, Laura, Cahill, Thomas, Bevillard, Jeremy, Gehrig, Corinne, Guipponi, Michel, Chantot, Sandra, Duquesnoy, Philippe, Thomas, Lucie, Jeanson, Ludovic, Copin, Bruno, Tamalet, Aline, Thauvin-Robinet, Christel, Papon, Jean- François, Garin, Antoine, Pin, Isabelle, Vera, Gabriella, Aurora, Paul, Fassad, Mahmoud R., Jenkins, Lucy, Boustred, Christopher, Cullup, Thomas, Dixon, Mellisa, Onoufriadis, Alexandros, Bush, Andrew, Chung, Eddie M. K., Antonarakis, Stylianos E., Loebinger, Michael R., Wilson, Robert, Armengot, Miguel, Escudier, Estelle, Hogg, Claire, Amselem, Serge, Sun, Zhaoxia, Bartoloni, Lucia, Blouin, Jean-Louis, Mitchison, Hannah M.
Published in Nature communications (08.02.2017)
Published in Nature communications (08.02.2017)
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C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia
Fassad, Mahmoud R., Shoemark, Amelia, le Borgne, Pierrick, Koll, France, Patel, Mitali, Dixon, Mellisa, Hayward, Jane, Richardson, Charlotte, Frost, Emily, Jenkins, Lucy, Cullup, Thomas, Chung, Eddie M.K., Lemullois, Michel, Aubusson-Fleury, Anne, Hogg, Claire, Mitchell, David R., Tassin, Anne-Marie, Mitchison, Hannah M.
Published in American journal of human genetics (03.05.2018)
Published in American journal of human genetics (03.05.2018)
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Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
Fassad, Mahmoud R., Patel, Mitali P., Shoemark, Amelia, Cullup, Thomas, Hayward, Jane, Dixon, Mellisa, Rogers, Andrew V., Ollosson, Sarah, Jackson, Claire, Goggin, Patricia, Hirst, Robert A., Rutman, Andrew, Thompson, James, Jenkins, Lucy, Aurora, Paul, Moya, Eduardo, Chetcuti, Philip, O'Callaghan, Chris, Morris-Rosendahl, Deborah J, Watson, Christopher M., Wilson, Robert, Carr, Siobhan, Walker, Woolf, Pitno, Andreia, Lopes, Susana, Morsy, Heba, Shoman, Walaa, Pereira, Luisa, Constant, Carolina, Loebinger, Michael R., Chung, Eddie M.K., Kenia, Priti, Rumman, Nisreen, Fasseeh, Nader, Lucas, Jane S., Hogg, Claire, Mitchison, Hannah M.
Published in Journal of medical genetics (01.05.2020)
Published in Journal of medical genetics (01.05.2020)
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Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia
Best, Sunayna, Shoemark, Amelia, Rubbo, Bruna, Patel, Mitali P, Fassad, Mahmoud R, Dixon, Mellisa, Rogers, Andrew V, Hirst, Robert A, Rutman, Andrew, Ollosson, Sarah, Jackson, Claire L, Goggin, Patricia, Thomas, Simon, Pengelly, Reuben, Cullup, Thomas, Pissaridou, Eleni, Hayward, Jane, Onoufriadis, Alexandros, O’Callaghan, Christopher, Loebinger, Michael R, Wilson, Robert, Chung, Eddie MK, Kenia, Priti, Doughty, Victoria L, Carvalho, Julene S, Lucas, Jane S, Mitchison, Hannah M, Hogg, Claire
Published in Thorax (01.02.2019)
Published in Thorax (01.02.2019)
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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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High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
Shoemark, Amelia, Moya, Eduardo, Hirst, Robert A, Patel, Mitali P, Robson, Evelyn A, Hayward, Jane, Scully, Juliet, Fassad, Mahmoud R, Lamb, William, Schmidts, Miriam, Dixon, Mellisa, Patel-King, Ramila S, Rogers, Andrew V, Rutman, Andrew, Jackson, Claire L, Goggin, Patricia, Rubbo, Bruna, Ollosson, Sarah, Carr, Siobhán, Walker, Woolf, Adler, Beryl, Loebinger, Michael R, Wilson, Robert, Bush, Andrew, Williams, Hywel, Boustred, Christopher, Jenkins, Lucy, Sheridan, Eamonn, Chung, Eddie M K, Watson, Christopher M, Cullup, Thomas, Lucas, Jane S, Kenia, Priti, O’Callaghan, Christopher, King, Stephen M, Hogg, Claire, Mitchison, Hannah M
Published in Thorax (01.02.2018)
Published in Thorax (01.02.2018)
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CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
Panizzi, Jennifer R, Becker-Heck, Anita, Castleman, Victoria H, Al-Mutairi, Dalal A, Liu, Yan, Loges, Niki T, Pathak, Narendra, Austin-Tse, Christina, Sheridan, Eamonn, Schmidts, Miriam, Olbrich, Heike, Werner, Claudius, Häffner, Karsten, Hellman, Nathan, Chodhari, Rahul, Gupta, Amar, Kramer-Zucker, Albrecht, Olale, Felix, Burdine, Rebecca D, Schier, Alexander F, O'Callaghan, Christopher, Chung, Eddie M K, Reinhardt, Richard, Mitchison, Hannah M, King, Stephen M, Omran, Heymut, Drummond, Iain A
Published in Nature genetics (01.06.2012)
Published in Nature genetics (01.06.2012)
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Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11
Shoemark, Amelia, Burgoyne, Thomas, Kwan, Robert, Dixon, Mellisa, Patel, Mitali P, Rogers, Andrew V, Onoufriadis, Alexandros, Scully, Juliet, Daudvohra, Farheen, Cullup, Thomas, Loebinger, Michael R, Wilson, Robert, Chung, Eddie M K, Bush, Andrew, Mitchison, Hannah M, Hogg, Claire
Published in The European respiratory journal (01.02.2018)
Published in The European respiratory journal (01.02.2018)
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Journal Article
Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
Antony, Dinu, Becker-Heck, Anita, Zariwala, Maimoona A., Schmidts, Miriam, Onoufriadis, Alexandros, Forouhan, Mitra, Wilson, Robert, Taylor-Cox, Theresa, Dewar, Ann, Jackson, Claire, Goggin, Patricia, Loges, Niki T., Olbrich, Heike, Jaspers, Martine, Jorissen, Mark, Leigh, Margaret W., Wolf, Whitney E., Daniels, M. Leigh Anne, Noone, Peadar G., Ferkol, Thomas W., Sagel, Scott D., Rosenfeld, Margaret, Rutman, Andrew, Dixit, Abhijit, O'Callaghan, Christopher, Lucas, Jane S., Hogg, Claire, Scambler, Peter J., Emes, Richard D., UK10K, Chung, Eddie M.K., Shoemark, Amelia, Knowles, Michael R., Omran, Heymut, Mitchison, Hannah M.
Published in Human mutation (01.03.2013)
Published in Human mutation (01.03.2013)
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Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia
Moore, Daniel J., Onoufriadis, Alexandros, Shoemark, Amelia, Simpson, Michael A., zur Lage, Petra I., de Castro, Sandra C., Bartoloni, Lucia, Gallone, Giuseppe, Petridi, Stavroula, Woollard, Wesley J., Antony, Dinu, Schmidts, Miriam, Didonna, Teresa, Makrythanasis, Periklis, Bevillard, Jeremy, Mongan, Nigel P., Djakow, Jana, Pals, Gerard, Lucas, Jane S., Marthin, June K., Nielsen, Kim G., Santoni, Federico, Guipponi, Michel, Hogg, Claire, Antonarakis, Stylianos E., Emes, Richard D., Chung, Eddie M.K., Greene, Nicholas D.E., Blouin, Jean-Louis, Jarman, Andrew P., Mitchison, Hannah M.
Published in American journal of human genetics (08.08.2013)
Published in American journal of human genetics (08.08.2013)
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Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities
Castleman, Victoria H., Romio, Leila, Chodhari, Rahul, Hirst, Robert A., de Castro, Sandra C.P., Parker, Keith A., Ybot-Gonzalez, Patricia, Emes, Richard D., Wilson, Stephen W., Wallis, Colin, Johnson, Colin A., Herrera, Rene J., Rutman, Andrew, Dixon, Mellisa, Shoemark, Amelia, Bush, Andrew, Hogg, Claire, Gardiner, R. Mark, Reish, Orit, Greene, Nicholas D.E., O'Callaghan, Christopher, Purton, Saul, Chung, Eddie M.K., Mitchison, Hannah M.
Published in American journal of human genetics (13.02.2009)
Published in American journal of human genetics (13.02.2009)
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DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm
Loges, Niki Tomas, Olbrich, Heike, Fenske, Lale, Mussaffi, Huda, Horvath, Judit, Fliegauf, Manfred, Kuhl, Heiner, Baktai, Gyorgy, Peterffy, Erzsebet, Chodhari, Rahul, Chung, Eddie M.K., Rutman, Andrew, O'Callaghan, Christopher, Blau, Hannah, Tiszlavicz, Laszlo, Voelkel, Katarzyna, Witt, Michal, Ziętkiewicz, Ewa, Neesen, Juergen, Reinhardt, Richard, Mitchison, Hannah M., Omran, Heymut
Published in American journal of human genetics (01.11.2008)
Published in American journal of human genetics (01.11.2008)
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Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
Onoufriadis, Alexandros, Shoemark, Amelia, Munye, Mustafa M, James, Chela T, Schmidts, Miriam, Patel, Mitali, Rosser, Elisabeth M, Bacchelli, Chiara, Beales, Philip L, Scambler, Peter J, Hart, Stephen L, Danke-Roelse, Jeannette E, Sloper, John J, Hull, Sarah, Hogg, Claire, Emes, Richard D, Pals, Gerard, Moore, Anthony T, Chung, Eddie M K, Mitchison, Hannah M
Published in Journal of medical genetics (01.01.2014)
Published in Journal of medical genetics (01.01.2014)
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