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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. 分享 收藏
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Combined approaches including long-read sequencing address the diagnostic challenge of HYDIN in primary ciliary dyskinesia Morris-Rosendahl, Deborah; Fleming, Andrew; Galey, Miranda; Briggs, Lizi; Hogg, Claire; Edwards, Matthew; John, Shibu; Wilkinson, Sam; Quinn, Ellie; Rai, Ranjit; Burgoyne, Tom; Rogers, Andy; Patel, Mitali; Griffin, Paul; Muller, Steven; Carr, Siobhan; Loebinger, Michael; Lucas, Jane; Shah, Anand; Jose, Ricardo; Mitchison, Hannah; Shoemark, Amelia; Miller, Danny 分享 收藏
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. 分享 收藏
The Palestinian primary ciliary dyskinesia (PCD) cohort: clinical, diagnostic and genetic spectrum Rumman, Nisreen; Fassad, Mahmoud; Driessens, Corine; Goggin, Patricia; Abdelrahman, Nader; Adwan, Adel; Chopra, Jagrati; Doherty, Regan; Fashho, Bishara; Freke, Grace M.; Jackson, Claire L.; Mohamed, Mai; Abu Nema, Reda; Patel, Mitali P.; Pengelly, Rueben; Qaaqour, Ahmad; Rubbo, Bruna; Thompson, James; Wheway, Gabrielle; Mitchison, Hannah; Lucas, Jane 分享 收藏
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia Shoemark, Amelia; Rubbo, Bruna; Legendre, Marie; Fassad, Mahmoud 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; Honore, Isabelle; Hunt, David; Jouvion, Gregory; Loebinger, Michel R.; Maitre, Bernard; Morris-Rosendahl, Deborah; Papon, Jean-Francois; Parsons, Camille M.; Patel, Mitali P.; Thomas, N. Simon; Thouvenin, Guillaume; Walker, Woolf T.; Wilson, Robert; Hogg, Claire; Mitchison, Hannah M.; Lucas, Jane S. 分享 收藏
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Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation Robson, Evie Alexandra; Dixon, Luke; Causon, Liam; Dawes, William; Benenati, Massimo; Fassad, Mahmoud; Hirst, Robert Anthony; Kenia, Priti; Moya, Eduardo Fernandez; Patel, Mitali; Peckham, Daniel; Rutman, Andrew; Mitchison, Hannah M.; Mankad, Kshitij; O'Callaghan, Christopher 分享 收藏
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. 分享 收藏
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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, Siobhan B.; Aurora, Paul; Lemullois, Michel; Aubusson-Fleury, Anne; Papon, Jean-Francois; O'Callaghan, Christopher; Amselem, Serge; Hogg, Claire; Escudier, Estelle; Tassin, Anne-Marie; Mitchison, Hannah M. 分享 收藏
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 M. K.; Kenia, Priti; Doughty, Victoria L.; Carvalho, Julene S.; Lucas, Jane S.; Mitchison, Hannah M.; Hogg, Claire 分享 收藏
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. 分享 收藏
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 分享 收藏
DNAAF1 links heart laterality with the AAA plus 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. 分享 收藏
A high prevalence CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia is associated with normal diagnostic investigations Shoemark, Amelia; Moya, Eduardo; Hirst, Robert A.; Patel, Mitali P.; Robson, Evelyn; Hayward, Jane; Scully, Juliet; Fassad, Mahmoud R.; Schmidts, Miriam; Dixon, Mellisa; Patel-King, Ramila S.; Rogers, Andrew; Rutman, Andrew; Jackson, Claire L.; Goggin, Patricia; Ollosson, Sarah; Carr, Siobhan; 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. 分享 收藏
Genetic risk factors for laterality defects and congenital heart disease (CHD) in patients with primary ciliary dyskinesia (PCD) Hogg, Claire; Best, Sunayna; Shoemark, Amelia; Rubbo, Bruna; Patel, Mitali; Fassad, Mahmoud; Carvalho, Julene; Kenia, Priti; Lucas, Jane; Mitchison, Hannah 分享 收藏
Use of electron tomography to confirm the diagnosis of primary ciliary dyskinesia Shoemark, Amelia; Burgoyne, Thomas; Kwan, Robert; Cahill, Thomas; Scully, Julliet; Dixon, Mellisa; Patel, Mitali; Bush, Andrew; Mitchison, Hannah; Hogg, Claire 分享 收藏
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, Siobhan; 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. 分享 收藏
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