متابعة
Hannah Mitchison
Hannah Mitchison
University College London
بريد إلكتروني تم التحقق منه على ucl.ac.uk
عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
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
6712002
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
4752017
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
4462015
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
4242002
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
3752009
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
3442012
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
3342014
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
3312013
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
3182012
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
3052008
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
2982012
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
2682014
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
2642015
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
2582016
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
2512013
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
2481997
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
2421999
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
2242013
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مقالات 1–20