Hannah Mitchison
Hannah Mitchison
Verified email at ucl.ac.uk
Title
Cited by
Cited by
Year
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
5562002
Isolation of a novel gene underlying Batten disease, CLN3.
TIBD Consortium.
Cell 82 (6), 949-57, 1995
539*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
446*2007
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
3562002
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
2752009
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
2662012
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), 1-9, 2015
2622015
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), 1-9, 2015
2622015
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
2532008
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
2462012
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
2402013
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
2342017
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
2272012
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
2212014
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
2131999
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
2101997
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), 1-8, 2014
1752014
Mutations of DNAI1 in Primary Ciliary Dyskinesia: Evidence of Founder Effect in a Common Mutation
MA Zariwala, MW Leigh, F Ceppa, MP Kennedy, PG Noone, JL Carson, ...
American journal of respiratory and critical care medicine 174 (8), 858-866, 2006
1752006
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
1652013
High resolution 1H NMR-based metabolomics indicates a neurotransmitter cycling deficit in cerebral tissue from a mouse model of Batten disease
MR Pears, JD Cooper, HM Mitchison, RJ Mortishire-Smith, DA Pearce, ...
Journal of Biological Chemistry 280 (52), 42508-42514, 2005
1652005
The system can't perform the operation now. Try again later.
Articles 1–20