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Debbie Hicks
Debbie Hicks
Verified email at ncl.ac.uk
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Year
Novel molecular subgroups for clinical classification and outcome prediction in childhood medulloblastoma: a cohort study
EC Schwalbe, JC Lindsey, S Nakjang, S Crosier, AJ Smith, D Hicks, ...
The Lancet Oncology 18 (7), 958-971, 2017
4932017
A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy
D Hicks, A Sarkozy, N Muelas, K Köehler, A Huebner, G Hudson, ...
Brain 134 (1), 171-182, 2011
2522011
Second-generation molecular subgrouping of medulloblastoma: an international meta-analysis of Group 3 and Group 4 subtypes
T Sharma, EC Schwalbe, D Williamson, M Sill, V Hovestadt, M Mynarek, ...
Acta neuropathologica 138, 309-326, 2019
2292019
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
J Cossins, K Belaya, D Hicks, MA Salih, S Finlayson, N Carboni, WW Liu, ...
Brain 136 (3), 944-956, 2013
1452013
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice
Y Zou, D Zwolanek, Y Izu, S Gandhy, G Schreiber, K Brockmann, ...
Human molecular genetics 23 (9), 2339-2352, 2014
1262014
Collagen type VI myopathies
KMD Bushby, J Collins, D Hicks
Progress in Heritable Soft Connective Tissue Diseases, 185-199, 2014
1182014
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations
C Jimenez-Mallebrera, MA Maioli, J Kim, SC Brown, L Feng, AK Lampe, ...
Neuromuscular Disorders 16 (9-10), 571-582, 2006
1082006
Muscle MRI findings in limb girdle muscular dystrophy type 2L
A Sarkozy, M Deschauer, RY Carlier, B Schrank, J Seeger, MC Walter, ...
Neuromuscular Disorders 22, S122-S129, 2012
952012
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy
D Hicks, GT Farsani, S Laval, J Collins, A Sarkozy, E Martoni, A Shah, ...
Human molecular genetics 23 (9), 2353-2363, 2014
942014
Natural history of pulmonary function in collagen VI-related myopathies
AR Foley, S Quijano-Roy, J Collins, V Straub, M McCallum, N Deconinck, ...
Brain 136 (12), 3625-3633, 2013
932013
Prognostic effect of whole chromosomal aberration signatures in standard-risk, non-WNT/non-SHH medulloblastoma: a retrospective, molecular analysis of the HIT-SIOP PNET 4 trial
T Goschzik, EC Schwalbe, D Hicks, A Smith, A Zur Muehlen, ...
The lancet oncology 19 (12), 1602-1616, 2018
922018
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance
AK Lampe, Y Zou, D Sudano, KK O'brien, D Hicks, SH Laval, R Charlton, ...
Human mutation 29 (6), 809-822, 2008
912008
Pediatric pan-central nervous system tumor analysis of immune-cell infiltration identifies correlates of antitumor immunity
Y Grabovska, A Mackay, P O’Hare, S Crosier, M Finetti, EC Schwalbe, ...
Nature communications 11 (1), 4324, 2020
872020
A refined diagnostic algorithm for Bethlem myopathy
D Hicks, AK Lampe, R Barresi, R Charlton, C Fiorillo, CG Bonnemann, ...
Neurology 70 (14), 1192-1199, 2008
872008
Biomarker-driven stratification of disease-risk in non-metastatic medulloblastoma: Results from the multi-center HIT-SIOP-PNET4 clinical trial
SC Clifford, B Lannering, EC Schwalbe, D Hicks, K O'Toole, SL Nicholson, ...
Oncotarget 6 (36), 38827, 2015
752015
ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene …
A Sarkozy, D Hicks, J Hudson, SH Laval, R Barresi, D Hilton‐Jones, ...
Human mutation 34 (8), 1111-1118, 2013
732013
Time, pattern, and outcome of medulloblastoma relapse and their association with tumour biology at diagnosis and therapy: a multicentre cohort study
RM Hill, S Richardson, EC Schwalbe, D Hicks, JC Lindsey, S Crosier, ...
The Lancet Child & Adolescent Health 4 (12), 865-874, 2020
642020
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy
E Harris, A Topf, R Barresi, J Hudson, H Powell, J Tellez, D Hicks, ...
Orphanet Journal of Rare Diseases 12, 1-12, 2017
532017
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue
D Hicks, AK Lampe, SH Laval, V Allamand, C Jimenez-Mallebrera, ...
Brain 132 (1), 147-155, 2009
512009
Emergence and maintenance of actionable genetic drivers at medulloblastoma relapse
S Richardson, RM Hill, C Kui, JC Lindsey, Y Grabovksa, C Keeling, ...
Neuro-oncology 24 (1), 153-165, 2022
332022
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