S69 Genetic and structural characterisation of outer dynein arm variants causing primary ciliary dyskinesia von Daudvohra, F, Fassad, MR, Dixon, M, Burgoyne, T, Rogers, AV, Loebinger, MR, Hogg, C, Mitchison, HM, Shoemark, A

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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 von Olcese, C, Patel, MP, Shoemark, A, Kiviluoto, S, Legendre, M, Williams, HJ, Vaughan, CK, Hayward, J, Goldenberg, A, Emes, RD, Munye, MM, Dyer, L, Cahill, T, Bevillard, J, Gehrig, C, Guipponi, M, Chantot, S, Duquesnoy, P, Thomas, L, Jeanson, L, Copin, B, Tamalet, A, Thauvin-Robinet, C, Papon, J-F, Garin, A, Pin, I, Vera, G, Aurora, P, Fassad, MR, Jenkins, L, Boustred, C, Cullup, T, Dixon, M, Onoufriadis, A, Bush, A, Chung, EMK, Antonarakis, SE, Loebinger, MR, Wilson, R, Armengot, M, Escudier, E, Hogg, C, Amselem, S, Sun, Z, Bartoloni, L, Blouin, J-L, Mitchison, HM

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Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index von Irving, S, Dixon, M, Fassad, MR, Frost, E, Hayward, J, Kilpin, K, Ollosson, S, Onoufriadis, A, Patel, MP, Scully, J, Carr, SB, Mitchison, HM, Loebinger, MR, Hogg, C, Shoemark, A, Bush, A

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O66 – 1608 Hypomyelination and congenital cataract: three additional patients carrying novel mutations von Biancheri, R, Traverso, M, Rossi, A, Gazzerro, E, Assereto, S, Baldassari, S, Fruscione, F, Abdalla, EM, Fassad, MR, Ruffinazzi, G, Savasta, S, Zara, F, Minetti, C

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Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study von Bisschoff, M, Smuts, I, Dercksen, M, Schoonen, M, Vorster, BC, van der Watt, G, Spencer, C, Naidu, K, Henning, F, Meldau, S, McFarland, R, Taylor, RW, Patel, K, Fassad, MR, Vandrovcova, J, Wanders, RJA, van der Westhuizen, FH

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Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia von Fassad, MR, Shoman, WI, Morsy, H, Patel, MP, Radwan, N, Jenkins, L, Cullup, T, Fouda, E, Mitchison, HM, Fasseeh, N

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Higher throughput drug screening for rare respiratory diseases: Readthrough therapy in primary ciliary dyskinesia von Lee, DDH, Cardinale, D, Nigro, E, Butler, CR, Rutman, A, Fassad, MR, Hirst, RA, Moulding, D, Agrotis, A, Forsythe, E, Peckham, D, Robson, E, Smith, CM, Somavarapu, S, Beales, PL, Hart, SL, Janes, SM, Mitchison, HM, Ketteler, R, Hynds, RE, O'Callaghan, C

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Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia von Shoemark, A, Rubbo, B, Legendre, M, Fassad, MR, Haarman, EG, Best, S, Bon, ICM, Brandsma, J, Burgel, P-R, Carlsson, G, Carr, SB, Carroll, M, Edwards, M, Escudier, E, Honoré, I, Hunt, D, Jouvion, G, Loebinger, MR, Maitre, B, Morris-Rosendahl, D, Papon, J-F, Parsons, CM, Patel, MP, Thomas, SN, Thouvenin, G, Walker, WT, Wilson, R, Hogg, C, Mitchison, HM, Lucas, JS

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Genetic and structural characterisation of outer dynein arm variants causing primary ciliary dyskinesia von Daudvohra, F, Fassad, MR, Dixon, M, Burgoyne, T, Rogers, AV, Loebinger, MR, Hogg, C, Mitchison, HM, Shoemark, A

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Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus von Fassad, MR, Shoemark, A, Legendre, M, Hirst, RA, Koll, F, le Borgne, P, Louis, B, Daudvohra, F, Patel, MP, Thomas, L, Dixon, M, Burgoyne, T, Hayes, J, Nicholson, AG, Cullup, T, Jenkins, L, Carr, SB, Aurora, P, Lemullois, M, Aubusson-Fleury, A, Papon, J-F, O'Callaghan, C, Amselem, S, Hogg, C, Escudier, E, Tassin, A-M, Mitchison, HM

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Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index von Irving, S, Dixon, M, Fassad, MR, Frost, E, Hayward, J, Kilpin, K, Ollosson, S, Onoufriadis, A, Patel, MP, Scully, J, Carr, SB, Mitchison, HM, Loebinger, MR, Hogg, C, Shoemark, A, Bush, A

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C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia von Fassad, MR, Shoemark, A, le Borgne, P, Koll, F, Patel, M, Dixon, M, Hayward, J, Richardson, C, Frost, E, Jenkins, L, Cullup, T, Chung, EMK, Lemullois, M, Aubusson-Fleury, A, Hogg, C, Mitchell, DR, Tassin, A-M, Mitchison, HM

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Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia von Best, S, Shoemark, A, Rubbo, B, Patel, MP, Fassad, MR, Dixon, M, Rogers, AV, Hirst, RA, Rutman, A, Ollosson, S, Jackson, CL, Goggin, P, Thomas, S, Pengelly, R, Cullup, T, Pissaridou, E, Hayward, J, Onoufriadis, A, O'Callaghan, C, Loebinger, MR, Wilson, R, Chung, EM, Kenia, P, Doughty, VL, Carvalho, JS, Lucas, JS, Mitchison, HM, Hogg, C

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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 von Shoemark, A, Moya, E, Hirst, RA, Patel, MP, Robson, EA, Hayward, J, Scully, J, Fassad, MR, Lamb, W, Schmidts, M, Dixon, M, Patel-King, RS, Rogers, AV, Rutman, A, Jackson, CL, Goggin, P, Rubbo, B, Ollosson, S, Carr, S, Walker, W, Adler, B, Loebinger, MR, Wilson, R, Bush, A, Williams, H, Boustred, C, Jenkins, L, Sheridan, E, Chung, EMK, Watson, CM, Cullup, T, Lucas, JS, Kenia, P, O’Callaghan, C, King, SM, Hogg, C, Mitchison, HM

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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 von Olcese, C, Patel, MP, Shoemark, A, Kiviluoto, S, Legendre, M, Williams, HJ, Vaughan, CK, Hayward, J, Goldenberg, A, Emes, RD, Munye, MM, Dyer, L, Cahill, T, Bevillard, J, Gehrig, C, Guipponi, M, Chantot, S, Duquesnoy, P, Thomas, L, Jeanson, L, Copin, B, Tamalet, A, Thauvin-Robinet, C, Papon, JF, Garin, A, Pin, I, Vera, G, Aurora, P, Fassad, MR, Jenkins, L, Boustred, C, Cullup, T, Dixon, M, Onoufriadis, A, Bush, A, Chung, EM, Antonarakis, SE, Loebinger, MR, Wilson, R, Armengot, M, Escudier, E, Hogg, C, UK10K Rare Group, Amselem, S, Sun, Z, Bartoloni, L, Blouin, JL, Mitchison, HM

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