Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11
Shoemark, Amelia, Burgoyne, Thomas, Kwan, Robert, Dixon, Mellisa, Patel, Mitali P, Rogers, Andrew V, Onoufriadis, Alexandros, Scully, Juliet, Daudvohra, Farheen, Cullup, Thomas, Loebinger, Michael R, Wilson, Robert, Chung, Eddie M K, Bush, Andrew, Mitchison, Hannah M, Hogg, Claire
Published in The European respiratory journal (01.02.2018)
Published in The European respiratory journal (01.02.2018)
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Journal Article
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
A Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy
MALIK, Talat H, LAVIN, Peter J, PICKERING, Matthew C, GOICOECHEA DE JORGE, Elena, VERNON, Katherine A, ROSE, Kirsten L, PATEL, Mitali P, DE LEEUW, Marcel, NEARLY, John J, COLON, Peter J, WINN, Michelle P
Published in Journal of the American Society of Nephrology (01.07.2012)
Published in Journal of the American Society of Nephrology (01.07.2012)
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Journal Article
Relationship between complotype and reported severity of systemic allergic reactions to peanut
Menikou, Stephanie, BSc, Patel, Mitali P., MSc, Rose, Kirsten L., BSc, Botto, Marina, FMedSci, Warner, John O., FMedSci, Pickering, Matthew C., MBBS, PhD, Boyle, Robert J., MBChB, PhD
Published in Journal of allergy and clinical immunology (01.05.2012)
Published in Journal of allergy and clinical immunology (01.05.2012)
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Journal Article
PCD Detect: enhancing ciliary features through image averaging and classification
Shoemark, Amelia, Pinto, Andreia L, Patel, Mitali P, Daudvohra, Farheen, Hogg, Claire, Mitchison, Hannah M, Burgoyne, Thomas
Published in American journal of physiology. Lung cellular and molecular physiology (01.12.2020)
Published in American journal of physiology. Lung cellular and molecular physiology (01.12.2020)
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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
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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Journal Article
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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Journal Article
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
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 (08.02.2017)
Published in Nature communications (08.02.2017)
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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia
Fleming, Andrew, Galey, Miranda, Briggs, Lizi, Edwards, Matthew, Hogg, Claire, John, Shibu, Wilkinson, Sam, Quinn, Ellie, Rai, Ranjit, Burgoyne, Tom, Rogers, Andy, Patel, Mitali P, Griffin, Paul, Muller, Steven, Carr, Siobhan B, Loebinger, Michael R, Lucas, Jane S, Shah, Anand, Jose, Ricardo, Mitchison, Hannah M, Shoemark, Amelia, Miller, Danny E, Morris-Rosendahl, Deborah J
Published in European journal of human genetics : EJHG (11.04.2024)
Published in European journal of human genetics : EJHG (11.04.2024)
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Journal Article
A hybrid CFHR3-1 gene causes familial C3 glomerulopathy
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
Published in Journal of the American Society of Nephrology (01.07.2012)
Published in Journal of the American Society of Nephrology (01.07.2012)
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Journal Article
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport
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
Published in Human molecular genetics (01.02.2018)
Published in Human molecular genetics (01.02.2018)
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