Hannah M. Mitchison
UCL Institute of Child Health
135 Papers
2.2K Citations
Hannah M. Mitchison is an academic researcher from UCL Institute of Child Health. The author has contributed to research in topics: Primary ciliary dyskinesia & Cilium. The author has an hindex of 51, co-authored 126 publications. Previous affiliations of Hannah M. Mitchison include French Institute of Health and Medical Research & University College London.
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Papers
The UK10K project identifies rare variants in health and disease
Klaudia Walter,Josine L. Min,Jie Huang,Lucy Crooks,Yasin Memari,Shane A. McCarthy,John R. B. Perry,ChangJiang Xu,Marta Futema,Daniel Lawson,Valentina Iotchkova,Stephan Schiffels,Audrey E. Hendricks,Petr Danecek,Rui Li,James A B Floyd,Louise V. Wain,Inês Barroso,Steve E. Humphries,Matthew E. Hurles,Eleftheria Zeggini,Jeffrey C. Barrett,Vincent Plagnol,J. Brent Richards,Celia M. T. Greenwood,Nicholas J. Timpson,Richard Durbin,Nicole Soranzo,Senduran Bala,Peter Clapham,Guy Coates,Tony Cox,Allan Daly,Yuanping Du,Sarah Edkins,Peter R. Ellis,Paul Flicek,Xiaosen Guo,Xueqin Guo,Liren Huang,David K. Jackson,Christopher J. Joyce,Thomas Keane,Anja Kolb-Kokocinski,Cordelia Langford,Yingrui Li,Jieqin Liang,Hong Lin,Ryan Liu,John Maslen,Dawn Muddyman,Michael A. Quail,Jim Stalker,Jianping Sun,Jing Tian,Guangbiao Wang,Jun Wang,Yu Wang,Kim Wong,Pingbo Zhang,Ewan Birney,Chris Boustred,Lu Chen,Gail Clement,Massimiliano Cocca,George Davey Smith,Ian N.M. Day,Aaron G. Day-Williams,Thomas A. Down,Ian Dunham,David M. Evans,Tom R. Gaunt,Matthias Geihs,Deborah J. Hart,Bryan Howie,Tim Hubbard,Pirro G. Hysi,Yalda Jamshidi,Konrad J. Karczewski,John P. Kemp,Genevieve Lachance,Monkol Lek,Margarida C. Lopes,Daniel G. MacArthur,Jonathan Marchini,Massimo Mangino,Iain Mathieson,Sarah Metrustry,Alireza Moayyeri,Kate Northstone,Kalliope Panoutsopoulou,Lavinia Paternoster,Lydia Quaye,Susan M. Ring,Graham R. S. Ritchie,Hashem A. Shihab,So-Youn Shin,Kerrin S. Small,María Soler Artigas,Lorraine Southam,Tim D. Spector,Beate St Pourcain,Gabriela L. Surdulescu,Ioanna Tachmazidou,Martin D. Tobin,Ana M. Valdes,Peter M. Visscher,Kirsten J. Ward,Scott Wilson,Jian Yang,Feng Zhang,Hou-Feng Zheng,Richard Anney,Muhammad Ayub,Douglas Blackwood,Patrick Bolton,Gerome Breen,David A. Collier,Nicholas John Craddock,Sarah Curran,David Curtis,Louise Gallagher,Daniel H. Geschwind,Hugh Gurling,Peter Holmans,Irene Lee,Jouko Lönnqvist,Peter McGuffin,Andrew M. McIntosh,Andrew McKechanie,Andrew McQuillin,James Morris,Michael Conlon O'Donovan,Michael John Owen,Aarno Palotie,Jeremy R. Parr,Tiina Paunio,Olli Pietiläinen,Karola Rehnström,Sally I. Sharp,David Skuse,David St Clair,Jaana Suvisaari,James T.R. Walters,Hywel Williams,Elena G. Bochukova,Rebecca Bounds,Anna F. Dominiczak,I. Sadaf Farooqi,Julia M. Keogh,Gaëlle Marenne,Andrew D. Morris,Stephen O'Rahilly,David J. Porteous,Blair H. Smith,Eleanor Wheeler,Saeed Al Turki,Carl A. Anderson,Dinu Antony,PL Beales,Jamie Bentham,Shoumo Bhattacharya,Mattia Calissano,Keren J. Carss,Krishna Chatterjee,Sebahattin Cirak,Catherine Cosgrove,David R. FitzPatrick,A. Reghan Foley,Christopher S. Franklin,Detelina Grozeva,Hannah M. Mitchison,Francesco Muntoni,Alexandros Onoufriadis,Victoria E. R. Parker,Felicity Payne,F. Lucy Raymond,Nicola D. Roberts,David B. Savage,Peter J. Scambler,Miriam Schmidts,Nadia Schoenmakers,Robert K. Semple,Eva Goncalves Serra,Olivera Spasic-Boskovic,Elizabeth Stevens,Margriet van Kogelenberg,Parthiban Vijayarangakannan,Kathleen A. Williamson,Crispian Wilson,Tamieka Whyte,Antonio Ciampi,Karim Oualkacha,Martin Bobrow,Heather Griffin,Jane Kaye,Karen Kennedy,Alastair Kent,Carol Smee,R. Charlton,Rosemary Ekong,Farrah Khawaja,Luis R. Lopes,Nicola Migone,Stewart J. Payne,Rebecca C. Pollitt,Sue Povey,Cheryl K. Ridout,Rachel L. Robinson,Richard H Scott,Adam Shaw,Petros Syrris,Rohan Taylor,Anthony M. Vandersteen,Antoinette Amuzu,Juan P. Casas,John C. Chambers,George Dedoussis,Giovanni Gambaro,Paolo Gasparini,Aaron Isaacs,Jon Johnson,Marcus E. Kleber,Jaspal S. Kooner,Claudia Langenberg,Jian'an Luan,Giovanni Malerba,Winfried Maerz,Angela Matchan,Richard W Morris,Børge G. Nordestgaard,Marianne Benn,Robert A. Scott,Daniela Toniolo,Michela Traglia,Anne Tybjærg-Hansen,Cornelia M. van Duijn,Elisabeth M. van Leeuwen,Anette Varbo,Peter H. Whincup,Gianluigi Zaza,Weihua Zhang +241 more
- 01 Jan 2015
TL;DR: The contribution of rare and low-frequency variants to human traits is largely unexplored as mentioned in this paper, but the contribution of these variants to the human traits has not yet been fully explored.
824
Primary ciliary dyskinesia: current state of the art
Andrew Bush,Rahul Chodhari,Nicola Collins,Fiona Copeland,Pippa Hall,Jonny Harcourt,Mohamed Hariri,Claire Hogg,Jane S. Lucas,Hannah M. Mitchison,Christopher O'Callaghan,Gill Phillips +11 more
TL;DR: Primary ciliary dyskinesia is usually inherited as an autosomal recessive disorder and presents with upper and lower respiratory tract infection, and mirror image arrangement in around 50% of cases.
360
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities
Victoria H. Castleman,Leila Romio,Rahul Chodhari,Robert A. Hirst,Sandra C. P. De Castro,Keith A. Parker,Patricia Ybot-Gonzalez,Richard D. Emes,Stephen W. Wilson,Colin Wallis,Colin A. Johnson,Rene J. Herrera,Andrew Rutman,Mellisa Dixon,Amelia Shoemark,Andrew Bush,Claire Hogg,R. Mark Gardiner,Orit Reish,Nicholas D. E. Greene,Christopher O'Callaghan,Saul Purton,Eddie M.K. Chung,Hannah M. Mitchison +23 more
TL;DR: Investigation of the effect of knockdown or mutations of RSPH9 orthologs in zebrafish and Chlamydomonas indicate that radial spoke head proteins are important in maintaining normal movement in motile, "9+2"-structure cilia and flagella.
342
DYX1C1 is required for axonemal dynein assembly and ciliary motility
Aarti Tarkar,Niki T. Loges,Christopher E. Slagle,Richard Francis,Gerard W. Dougherty,Joel V. Tamayo,Brett A. Shook,Marie E. Cantino,Daniel Schwartz,Charlotte Jahnke,Heike Olbrich,Claudius Werner,Johanna Raidt,Petra Pennekamp,Marouan Abouhamed,Rim Hjeij,Gabriele Köhler,Matthias Griese,You Li,Kristi Lemke,Nikolas Klena,Xiaoqin Liu,George C. Gabriel,Kimimasa Tobita,Martine Jaspers,Lucy Morgan,Adam J. Shapiro,Stef J.F. Letteboer,Dorus A. Mans,Johnny L. Carson,Margaret W. Leigh,Whitney E. Wolf,Serafine Chen,Jane S. Lucas,Alexandros Onoufriadis,Vincent Plagnol,Miriam Schmidts,Karsten Boldt,Ronald Roepman,Maimoona B Zariwala,Cecilia W. Lo,Hannah M. Mitchison,Michael R. Knowles,Rebecca D. Burdine,Joseph J. LoTurco,Heymut Omran +45 more
TL;DR: It is proposed that DYX1C1 is a newly identified dynein axonemal assembly factor (DNAAF4), which interacts with the cytoplasmic ODA and IDA assembly factor DNAAF2 (KTU) and is associated with dyslexia and neuronal migration in the developing neocortex.
Diagnosis and management of primary ciliary dyskinesia
Jane S. Lucas,Jane S. Lucas,Andrea Burgess,Hannah M. Mitchison,Eduardo Moya,Michael Williamson,Claire Hogg +6 more
TL;DR: The limitations surrounding diagnosis using currently available techniques are described and whether recent advances to genotype patients with PCD will lead to genetic testing and screening to aid diagnosis in the near future are considered.
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