Hannah Mitchison

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Sara MoleUCLZweryfikowany adres z ucl.ac.uk
Amelia ShoemarkAsthma and Lung UK/GSK Chair of Respiratory Research, University of Dundee and Royal BromptonZweryfikowany adres z rbht.nhs.uk
Claire HoggConsultant in Paediatric Respiratory Medicine, Royal Brompton HospitalZweryfikowany adres z rbht.nhs.uk
Christopher O'CallaghanProfessor of Respiratory & Paediatric Medicine, UCL Great Ormond Street Institute of Child HealthZweryfikowany adres z ucl.ac.uk
Patricia MunroeQueen Mary University of LondonZweryfikowany adres z qmul.ac.uk
Nicholas D GreeneProfessor of Developmental Neurobiology, UCLZweryfikowany adres z ucl.ac.uk
Jonathan CooperProfessor of Pediatrics, Washington University in St. LouisZweryfikowany adres z wustl.edu
Robert A HirstPrincipal scientist, University of LeicesterZweryfikowany adres z le.ac.uk
Prof David F CallenDirector of Centre for Personalised Cancer Medicine, University of Adelaide, South AustraliaZweryfikowany adres z adelaide.edu.au
Andrew BushImperial College and Royal Brompton HospitalZweryfikowany adres z imperial.ac.uk
Alexandros OnoufriadisAssociate Professor, Aristotle University of ThessalonikiZweryfikowany adres z auth.gr
Peter ScamblerEmeritus Professor of Molecular MedicineZweryfikowany adres z ich.ucl.ac.uk
Richard D EmesPVC Research and International, Nottingham Trent UniversityZweryfikowany adres z ntu.ac.uk
Irma Järveläclinical teacher, University of HelsinkiZweryfikowany adres z helsinki.fi
Michael KnowlesProfessor of Medicine, Univ of North CarolinaZweryfikowany adres z med.unc.edu
Rose-Mary BoustanyProfessor of Pediatrics and Adolescent Medicine, Biochemistry and Molecular Biology American University of BeirutZweryfikowany adres z aub.edu.lb
Gerard PalsAmsterdam University medical centers Amsterdam, The Netherlands; Universitas Gadjah Mada, YogyakartaZweryfikowany adres z amsterdamumc.nl
Lucia BartoloniCHUVZweryfikowany adres z chuv.ch
Stylianos E. AntonarakisProfessor of Genetic Medicine, University of Geneva Medical SchoolZweryfikowany adres z unige.ch
Matthew HurlesDirector, Senior Group Leader in Human Genetics, Wellcome Sanger InstituteZweryfikowany adres z sanger.ac.uk

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Hannah Mitchison

University College London

Zweryfikowany adres z ucl.ac.uk

rare disease genetics cilia ciliopathies


Tytuł Sortuj wg cytatów Sortuj wg roku Sortuj wg tytułu	Cytowane przez Cytowane przez	Rok
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	498*	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	447	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	305	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	268	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	259	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	251	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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