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

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

A Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy

Tekijä 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.
Julkaistu 2012

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

Tekijä 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.
Julkaisussa Am J Hum Genet (2018)

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

Tekijä 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
Julkaisussa 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

Tekijä 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.
Julkaisussa Thorax (2017)

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

Tekijä 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.
Julkaisussa Nat Commun (2017)