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 in Nature (London)

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

by 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.
Published in American journal of human genetics

Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study

by Bisschoff, Michelle, Smuts, Izelle, Dercksen, Marli, Schoonen, Maryke, Vorster, Barend C, van der Watt, George, Spencer, Careni, Naidu, Kireshnee, Henning, Franclo, Meldau, Surita, McFarland, Robert, Taylor, Robert W, Patel, Krutik, Fassad, Mahmoud R, Vandrovcova, Jana, Wanders, Ronald J A, van der Westhuizen, Francois H
Published in Orphanet journal of rare diseases

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 in Frontiers in genetics

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 in ERJ open research

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 in Human molecular genetics

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

by 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

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

by 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

CYP1B1 and myocilin gene mutations in Egyptian patients with primary congenital glaucoma

by Fassad, Mahmoud R., Amin, Asmaa K., Morsy, Heba A., Issa, Noha M., Bayoumi, Nader H., El Shafei, Sahar A., Kholeif, Soha F.
Published in The Egyptian journal of medical human genetics

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

by 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

Expanding the phenome and variome of skeletal dysplasia

by Maddirevula, Sateesh, Alsahli, Saud, Alhabeeb, Lamees, Patel, Nisha, Alzahrani, Fatema, Shamseldin, Hanan E., Anazi, Shams, Ewida, Nour, Alsaif, Hessa S., Mohamed, Jawahir Y., Alazami, Anas M., Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Abouelhoda, Mohamed, Monies, Dorota, Al Tassan, Nada, Alshammari, Muneera, Alsagheir, Afaf, Seidahmed, Mohammed Zain, Sogati, Samira, Aglan, Mona S, Hamad, Muddathir H., Salih, Mustafa A., Hamed, Ahlam A., Alhashmi, Nadia, Nabil, Amira, Alfadli, Fatima, Abdel-Salam, Ghada M.H., Alkuraya, Hisham, Peitee, Winnie Ong, Keng, W.T., Qasem, Abdullah, Mushiba, Aziza M., Zaki, Maha S, Fassad, Mahmoud R., Alfadhel, Majid, Alexander, Saji, Sabr, Yasser, Temtamy, Samia, Ekbote, Alka V, Ismail, Samira, Hosny, Gamal Ahmed, Otaify, Ghada A., Amr, Khalda, Al Tala, Saeed, Khan, Arif O., Rizk, Tamer, Alaqeel, Aida, Alsiddiky, Abdulmonem, Singh, Ankur, Kapoor, Seema, Alhashem, Amal, Faqeih, Eissa, Shaheen, Ranad, Alkuraya, Fowzan S.
Published in Genetics in medicine

Screening for the mitochondrial A1555G mutation among Egyptian patients with non-syndromic, sensorineural hearing loss

by Fassad, Mahmoud R, Desouky, Lubna M, Asal, Samir, Abdalla, Ebtesam M
Published in International journal of molecular epidemiology and genetics

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

by Dodd, Daniel O, Mechaussier, Sabrina, Yeyati, Patricia L, McPhie, Fraser, Anderson, Jacob R, Khoo, Chen Jing, Shoemark, Amelia, Gupta, Deepesh K, Attard, Thomas, Zariwala, Maimoona A, Legendre, Marie, Bracht, Diana, Wallmeier, Julia, Gui, Miao, Fassad, Mahmoud R, Parry, David A, Tennant, Peter A, Meynert, Alison, Wheway, Gabrielle, Fares-Taie, Lucas, Black, Holly A, Mitri-Frangieh, Rana, Faucon, Catherine, Kaplan, Josseline, Patel, Mitali, McKie, Lisa, Megaw, Roly, Gatsogiannis, Christos, Mohamed, Mai A, Aitken, Stuart, Gautier, Philippe, Reinholt, Finn R, Hirst, Robert A, O'Callaghan, Chris, Heimdal, Ketil, Bottier, Mathieu, Escudier, Estelle, Crowley, Suzanne, Descartes, Maria, Jabs, Ethylin W, Kenia, Priti, Amiel, Jeanne, Bacci, Giacomo Maria, Calogero, Claudia, Palazzo, Viviana, Tiberi, Lucia, Blümlein, Ulrike, Rogers, Andrew, Wambach, Jennifer A, Wegner, Daniel J, Fulton, Anne B, Kenna, Margaret, Rosenfeld, Margaret, Holm, Ingrid A, Quigley, Alan, Hall, Emma A, Murphy, Laura C, Cassidy, Diane M, von Kriegsheim, Alex, Papon, Jean-François, Pasquier, Laurent, Murris, Marlène S, Chalmers, James D, Hogg, Claire, Macleod, Kenneth A, Urquhart, Don S, Unger, Stefan, Aitman, Timothy J, Amselem, Serge, Leigh, Margaret W, Knowles, Michael R, Omran, Heymut, Mitchison, Hannah M, Brown, Alan, Marsh, Joseph A, Welburn, Julie P I, Ti, Shih-Chieh, Horani, Amjad, Rozet, Jean-Michel, Perrault, Isabelle, Mill, Pleasantine
Published in Science (American Association for the Advancement of Science)

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, 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 in EMBO molecular medicine

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 in Nature communications