Not logged in The international registry for primary ciliary dyskinesia reveals regional variation of genotypes and significant genotype-phenotype correlations Raidt, Johanna; Riepenhausen, Sarah; Amirav, Israel; Athanazio, Rodrigo A.; Aviram, Micha; Balinotti, Juan E.; Bar-On, Ophir; Bode, Sebastian Fn; Boon, Mieke; Borrelli, Melissa; Carr, Siobhan B.; Crowley, Suzanne; Dehlink, Eleonora; Diepenhorst, Sandra; Durdik, Peter; Dworniczak, Bernd; Emiralioglu, Nagehan; Erdem, Ela; Fonnesu, Rossella; Gracci, Serena; Grosse-Onnebrink, Joerg; Gwozdziewicz, Karolina; Haarman, Eric G.; Hansen, Christine R.; Hogg, Claire; Holgersen, Mathias G.; Julian, Varghese; Kerem, Eitan; Korner, Robert W.; Kotz, Karsten; Kouis, Panayiotis; Loebinger, Michael R.; Lorent, Natalie; Lucas, Jane S.; Maj, Debora; Mall, Marcus A.; Marthin, June K.; Martinu, Vendula; Mazurek, Henryk; Mitchison, Hannah M.; Noethe-Menchen, Tabea; Olbrich, Heike; Ozcelik, Ugur; Pennekamp, Petra; Pifferi, Massimo; Pogorzelski, Andrzej; Ringshausen, Felix C.; Roehmel, Jobst F.; Rovira-Amigo, Sandra; Rumman, Nisreen; Schlegtendal, Anne; Shoemark, Amelia; Kennelly, Synne Sperstad; Staar, Ben; Sutharsan, Sivagurunathan; Thomas, Simon; Ullmann, Nicola; Von Hardenberg, Sandra; Walker, Woolf; Wetzke, Martin; Witt, Michal; Yiallouros, Panayiotis; Zietkiewicz, Ewa; Nielsen, Kim G.; Omran, Heymut Share Save
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. Share Save
Preliminary results from the Genes encoding complex ciliopathies of bronchiectasis GECCO study: An EMBARC project Shoemark, Amelia; Fassad, Mahmoud; Perea, Lidia; Cant, Erin; Bottier, Mathieu; Altenburg, Josje; De-Soyza, Anthony; Lorent, Natalie; Loebinger, Michael R.; Ringshausen, Felix C.; Mitchison, Hannah M.; Chalmers, James D. Share Save
Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration. Crowley, Suzanne; Hankey, William; Elnagheeb, Marwa; Mani, Rahma; Benito, Maria-Ines; Soliman, Rasha; Gomes, Mafalda De Almeida; Ing, Alexander; Abdelwahab, Sabri; Worley, Lindsay; Mcnulty, Shannon; Siew, Justine; Thaxton, Courtney Lynn; Loucks, Catrina M.; Thomas, Simon; Zariwala, Maimoona; Leigh, Margaret; Morris-Rosendahl, Deborah; Zietkiewicz, Ewa; Dell, Sharon; Gaston, Ben; Dworniczak, Bernd; Hirst, Robert; Raidt, Johanna; Nykamp, Keith; Hannah, William; Fassad, Mahmoud; Shoemark, Amelia; Legendre, Marie; Mitchison, Hannah Share Save
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 Share Save
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. Share Save
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans Bakey, Zeineb; Cabrera, Oscar A.; Hoefele, Julia; Antony, Dinu; Wu, Kaman; Stuck, Michael W.; Micha, Dimitra; Eguether, Thibaut; Smith, Abigail O.; van der Wel, Nicole N.; Wagner, Matias; Strittmatter, Lara; Beales, Philip L.; Jonassen, Julie A.; Thiffault, Isabelle; Cadieux-Dion, Maxime; Boyes, Laura; Sharif, Saba; Tuysuz, Beyhan; Dunstheimer, Desiree; Niessen, Hans W. M.; Devine, William; Lo, Cecilia W.; Mitchison, Hannah M.; Schmidts, Miriam; Pazour, Gregory J. Share Save
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis Shoemark, Amelia; Griffin, Helen; Wheway, Gabrielle; Hogg, Claire; Lucas, Jane S.; Genomics England Res Consortium, Genomics England Research; Camps, Carme; Taylor, Jenny; Carroll, Mary; Loebinger, Michael R.; Chalmers, James D.; Morris-Rosendahl, Deborah; Mitchison, Hannah M.; De Soyza, Anthony Share Save
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Development and first results of the BEAT-PCD international Primary Ciliary Dyskinesia gene variant database: CiliaVar Mani, Rahma; Gomes, Mafalda; Gonzalez, Adrian Rodriguez; Hogg, Claire; Morris-Rosendahl, Deborah; Maitre, Bernard; Fassad, Mahmoud R.; Goutaki, Myrofora; Lucas, Jane S.; Shoemark, Amelia; Mitchison, Hannah M.; Legendre, Marie; Crowley, Suzanne Share Save
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 Share Save
Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism Lam, Wai-Yee; Tang, Clara Sze-Man; So, Man-Ting; Yue, Haibing; Hsu, Jacob Shujui; Chung, Patrick Ho-Yu; Nicholls, John M.; Yeung, Fanny; Lee, Chun-Wai Davy; Ngo, Diem Ngoc; Nguyen, Pham Anh Hoa; Mitchison, Hannah M.; Jenkins, Dagan; O'Callaghan, Christopher; Garcia-Barcelo, Maria-Merce; Lee, So-Lun; Sham, Pak-Chung; Lui, Vincent Chi-Hang; Kwong-Hang, Paul Share Save
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 Share Save
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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. Share Save
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Primary ciliary dyskinesia and non-CF bronchiectasis Project Wheway, Gabrielle; Legebeke, Jelmer; Carr, Siobhan B.; Carroll, Mary; Chetcuti, Philip; Hirst, Robert; Holloway, John; Hunt, David; Kenia, Priti; Loebinger, Michael; Lord, Jenny; Morris-Rosendal, Deborah; Moya, Eduardo; Narayanan, Manjith; O'Callaghan, Christopher; Peckham, Daniel; Robson, Evie; Shoemark, Amelia; Thomas, Simon; Walker, Woolf; Baralle, Diana; Mitchison, Hannah M.; Hogg, Claire; Lucas, Jane Share Save
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 Share Save
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. Share Save
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