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Onoufriadis, Alexandros and Shoemark, Amelia and Schmidts, Miriam and Patel, Mitali and Jimenez, Gina and Liu, Hui and Thomas, Biju and Dixon, Melissa and Hirst, Robert A. and Rutman, Andrew and Burgoyne, Thomas and Williams, Christopher and Scully, Juliet and Bolard, Florence and Lafitte, Jean-Jacques and Beales, Philip L. and Hogg, Claire and Yang, Pinfen and Chung, Eddie M.K. and Emes, Richard D. and O'Callaghan, Christopher and Bouvagnet, Patrice and Mitchison, Hannah M. (2014) Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. Human Molecular Genetics, 23 (13). pp. 3362-3374. ISSN 1460-2083