A novel CFHR5 fusion protein causes C3 glomerulopathy in a family without Cypriot ancestry

מאת Medjeral-Thomas, Nicholas, Malik, Talat H, Patel, Mitali P, Toth, Tibor, Terence Cook, H, Tomson, Charles, Pickering, Matthew C
יצא לאור 2014

A Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy

מאת Malik, Talat H., Lavin, Peter J., Goicoechea de Jorge, Elena, Vernon, Katherine A., Rose, Kirsten L., Patel, Mitali P., de Leeuw, Marcel, Neary, John J., Conlon, Peter J., Winn, Michelle P., Pickering, Matthew C.
יצא לאור 2012

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

מאת Fassad, Mahmoud R., Shoemark, Amelia, Legendre, Marie, Hirst, Robert A., Koll, France, le Borgne, Pierrick, Louis, Bruno, Daudvohra, Farheen, Patel, Mitali P., Thomas, Lucie, Dixon, Mellisa, Burgoyne, Thomas, Hayes, Joseph, Nicholson, Andrew G., Cullup, Thomas, Jenkins, Lucy, Carr, Siobhán B., Aurora, Paul, Lemullois, Michel, Aubusson-Fleury, Anne, Papon, Jean-François, O’Callaghan, Christopher, Amselem, Serge, Hogg, Claire, Escudier, Estelle, Tassin, Anne-Marie, Mitchison, Hannah M.
הוצא לאור ב Am J Hum Genet (2018)

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport

מאת Hartill, Verity L, van de Hoek, Glenn, Patel, Mitali P, Little, Rosie, Watson, Christopher M, Berry, Ian R, Shoemark, Amelia, Abdelmottaleb, Dina, Parkes, Emma, Bacchelli, Chiara, Szymanska, Katarzyna, Knoers, Nine V, Scambler, Peter J, Ueffing, Marius, Boldt, Karsten, Yates, Robert, Winyard, Paul J, Adler, Beryl, Moya, Eduardo, Hattingh, Louise, Shenoy, Anil, Hogg, Claire, Sheridan, Eamonn, Roepman, Ronald, Norris, Dominic, Mitchison, Hannah M, Giles, Rachel H, Johnson, Colin A
הוצא לאור ב Hum Mol Genet (2018)

A high prevalence CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

מאת 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, Ollosson, Sarah, Carr, Siobhán, Walker, Woolf, Adler, Beryl, Loebinger, Michael R., Wilson, Robert, Bush, Andrew, Williams, Hywel, Boustred, Christopher, Jenkins, Lucy, Sheridan, Eamonn, Watson, Christopher M., Cullup, Thomas, Lucas, Jane S, Kenia, Priti, O’Callaghan, Christopher, King, Stephen M., Hogg, Claire, Mitchison, Hannah M.
הוצא לאור ב Thorax (2017)

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

מאת 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.
הוצא לאור ב Nat Commun (2017)