Axonemal structures reveal mechanoregulatory and disease mechanisms
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) (15.06.2023)
Published in Nature (London) (15.06.2023)
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Journal Article
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
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 (06.12.2018)
Published in American journal of human genetics (06.12.2018)
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Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia
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 in The European respiratory journal (01.10.2021)
Published in The European respiratory journal (01.10.2021)
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Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study
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 (14.01.2024)
Published in Orphanet journal of rare diseases (14.01.2024)
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CFAP300 mutation causing primary ciliary dyskinesia in Finland
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 (30.09.2022)
Published in Frontiers in genetics (30.09.2022)
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The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum
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 (01.03.2023)
Published in ERJ open research (01.03.2023)
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Journal Article
CYP1B1 and myocilin gene mutations in Egyptian patients with primary congenital glaucoma
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 (01.07.2017)
Published in The Egyptian journal of medical human genetics (01.07.2017)
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Journal Article
Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations
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 (17.10.2023)
Published in Human molecular genetics (17.10.2023)
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Journal Article
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia
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 (03.05.2018)
Published in American journal of human genetics (03.05.2018)
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Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia
Shoemark, Amelia, Rubbo, Bruna, Legendre, Marie, Fassad, Mahmood R, Haarman, Eric G, Best, Sunayna, Bon, Irma C M, Brandsma, Joost, Burgel, Pierre-Regis, Carlsson, Gunnar, Carr, Siobhan B, Carroll, Mary, Edwards, Matt, Escudier, Estelle, Honoré, Isabelle, Hunt, David, Jouvion, Gregory, Loebinger, Michel R, Maitre, Bernard, Morris-Rosendahl, Deborah, Papon, Jean-Francois, Parsons, Camille M, Patel, Mitali P, Thomas, Simon N, Thouvenin, Guillaume, Walker, Woolf T, Wilson, Robert, Hogg, Claire, Mitchison, Hannah M, Lucas, Jane S
Published in The European respiratory journal (01.08.2021)
Published in The European respiratory journal (01.08.2021)
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Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia
Fassad, Mahmoud R., Shoman, Walaa I., Morsy, Heba, Patel, Mitali P., Radwan, Nesrine, Jenkins, Lucy, Cullup, Thomas, Fouda, Eman, Mitchison, Hannah M., Fasseeh, Nader
Published in Clinical genetics (01.03.2020)
Published in Clinical genetics (01.03.2020)
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Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia
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 (01.02.2019)
Published in Thorax (01.02.2019)
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Primary ciliary dyskinesia in Egypt: First report of cilia ultrastructural defects and novel genetic variants
Shoman, Walaa, Elbanna, Amr G., Fassad, Mahmoud R., Elheneidy, Moushira A. R., Petrarca, Laura, 3billion Consortium, Ryu, Seung Woo, Kim, JiHye, Song, Yongjun, Hyun, Seong‐In, Elsawy, Ihab, Fasseeh, Nader
Published in Pediatric pulmonology (01.06.2024)
Published in Pediatric pulmonology (01.06.2024)
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High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
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 (01.02.2018)
Published in Thorax (01.02.2018)
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Expanding the phenome and variome of skeletal dysplasia
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 (01.12.2018)
Published in Genetics in medicine (01.12.2018)
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Screening for the mitochondrial A1555G mutation among Egyptian patients with non-syndromic, sensorineural hearing loss
Fassad, Mahmoud R, Desouky, Lubna M, Asal, Samir, Abdalla, Ebtesam M
Published in International journal of molecular epidemiology and genetics (01.01.2014)
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Published in International journal of molecular epidemiology and genetics (01.01.2014)
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Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
Fassad, Mahmoud R., Patel, Mitali P., Shoemark, Amelia, Cullup, Thomas, Hayward, Jane, Dixon, Mellisa, Rogers, Andrew V., Ollosson, Sarah, Jackson, Claire, Goggin, Patricia, Hirst, Robert A., Rutman, Andrew, Thompson, James, Jenkins, Lucy, Aurora, Paul, Moya, Eduardo, Chetcuti, Philip, O'Callaghan, Chris, Morris-Rosendahl, Deborah J, Watson, Christopher M., Wilson, Robert, Carr, Siobhan, Walker, Woolf, Pitno, Andreia, Lopes, Susana, Morsy, Heba, Shoman, Walaa, Pereira, Luisa, Constant, Carolina, Loebinger, Michael R., Chung, Eddie M.K., Kenia, Priti, Rumman, Nisreen, Fasseeh, Nader, Lucas, Jane S., Hogg, Claire, Mitchison, Hannah M.
Published in Journal of medical genetics (01.05.2020)
Published in Journal of medical genetics (01.05.2020)
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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
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) (26.04.2024)
Published in Science (American Association for the Advancement of Science) (26.04.2024)
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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
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 (08.05.2023)
Published in EMBO molecular medicine (08.05.2023)
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Journal Article
High-content screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia
Dani Do Hyang Lee, Cardinale, Daniela, Nigro, Ersilia, Butler, Colin R, Rutman, Andrew, Fassad, Mahmoud R, Hirst, Robert A, Moulding, Dale, Agrotis, Alexander, sythe, Elizabeth, Peckham, Daniel, Robson, Evie, Smith, Claire M, Satyanarayana Somavarapu, Beales, Philip L, Hart, Stephen L, Janes, Sam M, Mitchison, Hannah M, Ketteler, Robin, Hynds, Robert E, O'callaghan, Christopher
Published in bioRxiv (28.02.2020)
Published in bioRxiv (28.02.2020)
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