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TITLE: Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
AUTHORS: Mahmoud R Fassad; Mitali P Patel; Amelia Shoemark; Thomas Cullup; Jane Hayward; Mellisa Dixon; Andrew V Rogers; Sarah Ollosson; Claire Jackson; Patricia Goggin; Robert A Hirst; Andrew Rutman; James Thompson; Lucy Jenkins; Paul Aurora; Eduardo Moya; Philip Chetcuti; Chris O'Callaghan; Deborah J Morris Rosendahl; Christopher M Watson; Robert Wilson; Siobhan Carr; Woolf Walker; Andreia Pitno; Susana Lopes; Heba Morsy; Walaa Shoman; Luisa Pereira; Carolina Constant; Michael R Loebinger; Eddie M K Chung; Priti Kenia; Nisreen Rumman; Nader Fasseeh; Jane S Lucas; Claire Hogg; Hannah M Mitchison; ...More
PUBLISHED: 2020, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 57, ISSUE: 5
INDEXED IN: Scopus WOS
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TITLE: Pulmonary exacerbations in patients with primary ciliary dyskinesia: an expert consensus definition for use in clinical trials
AUTHORS: Lucas, Jane S.; Gahleitner, Florian; Amorim, Adelina; Boon, Mieke; Brown, Philippa; Constant, Carolina; Cook, Simon; Crowley, Suzanne; Destouches, Damien M. S.; Eber, Ernst; Mussaffi, Huda; Haarman, Eric; Harris, Amanda; Koerner Rettberg, Cordula; Kuehni, Claudia E.; Latzin, Philipp; Loebinger, Michael R.; Lorent, Natalie; Maitre, Bernard; Moreno Galdo, Antonio; Nielsen, Kim G.; Ozcelik, Ugur; Philipsen, Lue Katrine Drasbaek; Pohunek, Petr; Polverino, Eva; Rademacher, Jessica; Robinson, Phil; Snijders, Deborah; Yiallouros, Panayiotis; Carr, Siobhan B.; ...More
PUBLISHED: 2019, SOURCE: ERJ OPEN RESEARCH, VOLUME: 5, ISSUE: 1
INDEXED IN: WOS CrossRef: 25
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TITLE: Management of primary ciliary dyskinesia in European children: recommendations and clinical practice  Full Text
AUTHORS: Marie Pierre F Strippoli; Thomas Frischer; Angelo Barbato; Deborah Snijders; Elisabeth Maurer; Jane S A Lucas; Ernst Eber; Bulent Karadag; Petr Pohunek; Zorica Zivkovic; Amparo Escribano; Chris O'Callaghan; Andrew Bush; Claudia E Kuehni; Ines Azevedo ;
PUBLISHED: 2012, SOURCE: EUROPEAN RESPIRATORY JOURNAL, VOLUME: 39, ISSUE: 6
INDEXED IN: WOS CrossRef: 107