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

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

A Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy

द्वारा 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.
प्रकाशित 2012

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

द्वारा 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.
में प्रकाशित Am J Hum Genet (2018)

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

द्वारा 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
में प्रकाशित 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

द्वारा 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.
में प्रकाशित Thorax (2017)

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

द्वारा 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.
में प्रकाशित Nat Commun (2017)