Publication
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
Alexandros Onoufriadis, Amelia Shoemark, Miriam Schmidts, Mitali Patel, Gina Jimenez, Hui Liu, Biju Thomas, Mellisa Dixon, Robert A. Hirst, Andrew Rutman, Thomas Burgoyne, Christopher Williams, Juliet Scully, Florence Bolard, Jean-Jacques Lafitte, Philip L. Beales, Claire Hogg, Pinfen Yang, Eddie M.K. Chung, Richard D. Emes, Christopher O'Callaghan, Patrice Bouvagnet, Hannah M. Mitchison
Human Molecular Genetics, February 2014, Oxford University Press (OUP)
DOI: 10.1093/hmg/ddu046