Items where authors include "Mitchison, HM"
Article
Lee, DDH, Cardinale, D, Nigro, E et al. (18 more authors) (2021) Higher throughput drug screening for rare respiratory diseases: Readthrough therapy in primary ciliary dyskinesia. European Respiratory Journal, 57 (6). p. 2000455. ISSN 0903-1936
Robson, EA, Dixon, L, Causon, L et al. (12 more authors) (2020) Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation. Neurology Genetics, 6 (4). e482. ISSN 2376-7839
Hartill, VL, Van de Hoek, G, Patel, MP et al. (25 more authors) (2018) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Human Molecular Genetics, 27 (3). pp. 529-545. ISSN 0964-6906
Shoemark, A, Moya, E, Hirst, RA et al. (34 more authors) (2018) High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Thorax, 73 (2). pp. 157-166. ISSN 0040-6376
Wheway, G, Schmidts, M, Mans, DA et al. (75 more authors) (2015) An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nature Cell Biology, 17 (8). pp. 1074-1087. ISSN 1465-7392
Schmidts, M, Hou, Y, Cortés, CR et al. (25 more authors) (2015) TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature Communications, 6. 7074.
Diggle, CP orcid.org/0000-0001-6861-359X, Moore, DJ, Mali, G et al. (21 more authors) (2014) HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus. PLoS Genetics, 10 (9). e1004577. ISSN 1553-7390
Conference or Workshop Item
Wheway, G, Legebeke, J, Carr, SB et al. (21 more authors) (2020) Primary ciliary dyskinesia and non-CF bronchiectasis in the 100,000 Genomes Project. In: 2020 ERS International Congress, 06-09 Sep 2020, Online.