Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations

by Fassad, Mahmoud R, Rumman, Nisreen, Junger, Katrin, Patel, Mitali P, Thompson, James, Goggin, Patricia, Ueffing, Marius, Beyer, Tina, Boldt, Karsten, Lucas, Jane S, Mitchison, Hannah M
Published 2023

Axonemal structures reveal mechanoregulatory and disease mechanisms

by Walton, Travis, Gui, Miao, Velkova, Simona, Fassad, Mahmoud R., Hirst, Robert A., Haarman, Eric, O’Callaghan, Christopher, Bottier, Mathieu, Burgoyne, Thomas, Mitchison, Hannah M., Brown, Alan
Published 2023

CFAP300 mutation causing primary ciliary dyskinesia in Finland

by Schultz, Rüdiger, Elenius, Varpu, Fassad, Mahmoud R., Freke, Grace, Rogers, Andrew, Shoemark, Amelia, Koistinen, Tiina, Mohamed, Mai A., Lim, Jacqueline S. Y., Mitchison, Hannah M., Sironen, Anu I.
Published 2022

Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia

by Lee, Dani Do Hyang, Cardinale, Daniela, Nigro, Ersilia, Butler, Colin R., Rutman, Andrew, Fassad, Mahmoud R., Hirst, Robert A., Moulding, Dale, Agrotis, Alexander, Forsythe, Elisabeth, Peckham, Daniel, Robson, Evie, Smith, Claire M., Somavarapu, Satyanarayana, Beales, Philip L., Hart, Stephen L., Janes, Sam M., Mitchison, Hannah M., Ketteler, Robin, Hynds, Robert E., O'Callaghan, Christopher
Published 2021

The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum

by Rumman, Nisreen, Fassad, Mahmoud R., Driessens, Corine, Goggin, Patricia, Abdelrahman, Nader, Adwan, Adel, Albakri, Mutaz, Chopra, Jagrati, Doherty, Regan, Fashho, Bishara, Freke, Grace M., Hasaballah, Abdallah, Jackson, Claire L., Mohamed, Mai A., Abu Nema, Reda, Patel, Mitali P., Pengelly, Reuben J., Qaaqour, Ahmad, Rubbo, Bruna, Thomas, N. Simon, Thompson, James, Walker, Woolf T., Wheway, Gabrielle, Mitchison, Hannah M., Lucas, Jane S.
Published 2023

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

by Erdinc, Direnis, Rodríguez‐Luis, Alejandro, Fassad, Mahmoud R, Mackenzie, Sarah, Watson, Christopher M, Valenzuela, Sebastian, Xie, Xie, Menger, Katja E, Sergeant, Kate, Craig, Kate, Hopton, Sila, Falkous, Gavin, Poulton, Joanna, Garcia‐Moreno, Hector, Giunti, Paola, de Moura Aschoff, Carlos A, Morales Saute, Jonas A, Kirby, Amelia J, Toro, Camilo, Wolfe, Lynne, Novacic, Danica, Greenbaum, Lior, Eliyahu, Aviva, Barel, Ortal, Anikster, Yair, McFarland, Robert, Gorman, Gráinne S, Schaefer, Andrew M, Gustafsson, Claes M, Taylor, Robert W, Falkenberg, Maria, Nicholls, Thomas J
Published 2023

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

by 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 2017

Neuromuscular disease genetics in under-represented populations: increasing data diversity

by Wilson, Lindsay A, Macken, William L, Perry, Luke D, Record, Christopher J, Schon, Katherine R, Frezatti, Rodrigo S S, Raga, Sharika, Naidu, Kireshnee, Köken, Özlem Yayıcı, Polat, Ipek, Kapapa, Musambo M, Dominik, Natalia, Efthymiou, Stephanie, Morsy, Heba, Nel, Melissa, Fassad, Mahmoud R, Gao, Fei, Patel, Krutik, Schoonen, Maryke, Bisschoff, Michelle, Vorster, Armand, Jonvik, Hallgeir, Human, Ronel, Lubbe, Elsa, Nonyane, Malebo, Vengalil, Seena, Nashi, Saraswati, Srivastava, Kosha, Lemmers, Richard J L F, Reyaz, Alisha, Mishra, Rinkle, Töpf, Ana, Trainor, Christina I, Steyn, Elizabeth C, Mahungu, Amokelani C, van der Vliet, Patrick J, Ceylan, Ahmet Cevdet, Hiz, A Semra, Çavdarlı, Büşranur, Semerci Gündüz, C Nur, Ceylan, Gülay Güleç, Nagappa, Madhu, Tallapaka, Karthik B, Govindaraj, Periyasamy, van der Maarel, Silvère M, Narayanappa, Gayathri, Nandeesh, Bevinahalli N, Wa Somwe, Somwe, Bearden, David R, Kvalsund, Michelle P, Ramdharry, Gita M, Oktay, Yavuz, Yiş, Uluç, Topaloğlu, Haluk, Sarkozy, Anna, Bugiardini, Enrico, Henning, Franclo, Wilmshurst, Jo M, Heckmann, Jeannine M, McFarland, Robert, Taylor, Robert W, Smuts, Izelle, van der Westhuizen, Francois H, Sobreira, Claudia Ferreira da Rosa, Tomaselli, Pedro J, Marques, Wilson, Bhatia, Rohit, Dalal, Ashwin, Srivastava, M V Padma, Yareeda, Sireesha, Nalini, Atchayaram, Vishnu, Venugopalan Y, Thangaraj, Kumarasamy, Straub, Volker, Horvath, Rita, Chinnery, Patrick F, Pitceathly, Robert D S, Muntoni, Francesco, Houlden, Henry, Vandrovcova, Jana, Reilly, Mary M, Hanna, Michael G
Published 2023