Hannah Mitchison

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Sara MoleUCLVerified email at ucl.ac.uk
Amelia ShoemarkAsthma and Lung UK/GSK Chair of Respiratory Research, University of Dundee and Royal BromptonVerified email at rbht.nhs.uk
Claire HoggConsultant in Paediatric Respiratory Medicine, Royal Brompton HospitalVerified email at rbht.nhs.uk
Christopher O'CallaghanProfessor of Respiratory & Paediatric Medicine, UCL Great Ormond Street Institute of Child HealthVerified email at ucl.ac.uk
Patricia MunroeQueen Mary University of LondonVerified email at qmul.ac.uk
Nicholas D GreeneProfessor of Developmental Neurobiology, UCLVerified email at ucl.ac.uk
Jonathan CooperProfessor of Pediatrics, Washington University in St. LouisVerified email at wustl.edu
Robert A HirstPrincipal scientist, University of LeicesterVerified email at le.ac.uk
Prof David F CallenDirector of Centre for Personalised Cancer Medicine, University of Adelaide, South AustraliaVerified email at adelaide.edu.au
Andrew BushImperial College and Royal Brompton HospitalVerified email at imperial.ac.uk
Alexandros OnoufriadisAssociate Professor, Aristotle University of ThessalonikiVerified email at auth.gr
Peter ScamblerEmeritus Professor of Molecular MedicineVerified email at ich.ucl.ac.uk
Richard D EmesPVC Research and International, Nottingham Trent UniversityVerified email at ntu.ac.uk
Irma Järveläclinical teacher, University of HelsinkiVerified email at helsinki.fi
Michael KnowlesProfessor of Medicine, Univ of North CarolinaVerified email at med.unc.edu
Rose-Mary BoustanyProfessor of Pediatrics and Adolescent Medicine, Biochemistry and Molecular Biology American University of BeirutVerified email at aub.edu.lb
Gerard PalsAmsterdam University medical centers Amsterdam, The Netherlands; Universitas Gadjah Mada, YogyakartaVerified email at amsterdamumc.nl
Lucia BartoloniCHUVVerified email at chuv.ch
Stylianos E. AntonarakisProfessor of Genetic Medicine, University of Geneva Medical SchoolVerified email at unige.ch
Matthew HurlesDirector, Senior Group Leader in Human Genetics, Wellcome Sanger InstituteVerified email at sanger.ac.uk

Hannah Mitchison

University College London

Verified email at ucl.ac.uk

rare disease genetics cilia ciliopathies


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Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry H Olbrich, K Häffner, A Kispert, A Völkel, A Volz, G Sasmaz, R Reinhardt, ... Nature genetics 30 (2), 143-144, 2002	671	2002
Isolation of a novel gene underlying Batten disease, CLN3. TIBD Consortium. Cell 82 (6), 949-57, 1995	588*	1995
Primary ciliary dyskinesia: current state of the art A Bush, R Chodhari, N Collins, F Copeland, P Hall, J Harcourt, M Hariri, ... Archives of disease in childhood 92 (12), 1136-1140, 2007	497*	2007
Motile and non‐motile cilia in human pathology: from function to phenotypes HM Mitchison, EM Valente The Journal of pathology 241 (2), 294-309, 2017	472	2017
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ... Nature communications 6 (1), 8111, 2015	445	2015
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia L Bartoloni, JL Blouin, Y Pan, C Gehrig, AK Maiti, N Scamuffa, C Rossier, ... Proceedings of the National Academy of Sciences 99 (16), 10282-10286, 2002	424	2002
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities VH Castleman, L Romio, R Chodhari, RA Hirst, SCP de Castro, KA Parker, ... The American Journal of Human Genetics 84 (2), 197-209, 2009	375	2009
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry H Olbrich, M Schmidts, C Werner, A Onoufriadis, NT Loges, J Raidt, ... The American Journal of Human Genetics 91 (4), 672-684, 2012	343	2012
Diagnosis and management of primary ciliary dyskinesia JS Lucas, A Burgess, HM Mitchison, E Moya, M Williamson, C Hogg Archives of disease in childhood 99 (9), 850-856, 2014	334	2014
DYX1C1 is required for axonemal dynein assembly and ciliary motility A Tarkar, NT Loges, CE Slagle, R Francis, GW Dougherty, JV Tamayo, ... Nature genetics 45 (9), 995-1003, 2013	330	2013
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia HM Mitchison, M Schmidts, NT Loges, J Freshour, A Dritsoula, RA Hirst, ... Nature genetics 44 (4), 381-389, 2012	318	2012
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm NT Loges, H Olbrich, L Fenske, H Mussaffi, J Horvath, M Fliegauf, H Kuhl, ... The American Journal of Human Genetics 83 (5), 547-558, 2008	304	2008
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms JR Panizzi, A Becker-Heck, VH Castleman, DA Al-Mutairi, Y Liu, ... Nature genetics 44 (6), 714-719, 2012	298	2012
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia M Boon, J Wallmeier, L Ma, NT Loges, M Jaspers, H Olbrich, ... Nature communications 5 (1), 4418, 2014	269	2014
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ... Nature cell biology 17 (8), 1074-1087, 2015	264	2015
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, TMT Nguyen, Y Texier, ... Nature communications 7 (1), 11491, 2016	258	2016
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans J Halbritter, AA Bizet, M Schmidts, JD Porath, DA Braun, HY Gee, ... The American Journal of Human Genetics 93 (5), 915-925, 2013	250	2013
Spectrum of mutations in the Batten disease gene, CLN3 PB Munroe, HM Mitchison, AM O'Rawe, JW Anderson, RM Boustany, ... The American Journal of Human Genetics 61 (2), 310-316, 1997	248	1997
Targeted disruption of the Cln3 gene provides a mouse model for Batten disease HM Mitchison, DJ Bernard, NDE Greene, JD Cooper, MA Junaid, ... Neurobiology of disease 6 (5), 321-334, 1999	242	1999
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia A Onoufriadis, T Paff, D Antony, A Shoemark, D Micha, B Kuyt, ... The American Journal of Human Genetics 92 (1), 88-98, 2013	224	2013

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