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Browsing publications by Dr Debbie Hicks.

Newcastle AuthorsTitleYearFull text
Dr Stephen Crosier
Dr Debbie Hicks
Dr Ed Schwalbe
Dr Daniel Williamson
Amanda Smith
et al.
Advanced molecular pathology for rare tumours: A national feasibility study and model for centralised medulloblastoma diagnostics2021
Dr Debbie Hicks
Dr Reza Rafiee
Dr Ed Schwalbe
Dr Christopher Howell
Dr Janet Lindsey
et al.
The molecular landscape and associated clinical experience in infant medulloblastoma: prognostic significance of second-generation subtypes2021
Dr Ed Schwalbe
Dr Debbie Hicks
Professor Steven Clifford
Effects of the growth pattern of medulloblastoma on short-term neurological impairments after surgery: Results from the prospective multicenter HIT-SIOP PNET 4 study2020
Dr Yura Grabovska
Dr Stephen Crosier
Dr Martina Finetti
Dr Ed Schwalbe
Dr Rebecca Hill
et al.
Pediatric pan-central nervous system tumor analysis of immune-cell infiltration identifies correlates of antitumor immunity2020
Dr Rebecca Hill
Dr Stacey Richardson
Dr Ed Schwalbe
Dr Debbie Hicks
Dr Janet Lindsey
et al.
Time, pattern, and outcome of medulloblastoma relapse and their association with tumour biology at diagnosis and therapy: a multicentre cohort study2020
Professor Steven Clifford
Dr Ed Schwalbe
Dr Debbie Hicks
Imaging Characteristics of Wingless Pathway Subgroup Medulloblastomas: Results from the German HIT/SIOP-Trial Cohort2019
Dr Ed Schwalbe
Dr Daniel Williamson
Dr Janet Lindsey
Dr Rebecca Hill
Dr Debbie Hicks
et al.
Second-generation molecular subgrouping of medulloblastoma: an international meta-analysis of Group 3 and Group 4 subtypes2019
Dr Ed Schwalbe
Dr Debbie Hicks
Professor Steven Clifford
Prognostic impact of whole chromosomal 1 aberration signatures in standard-risk non-WNT/non-SHH medulloblastoma: a retrospective molecular analysis of the HIT-SIOP-PNET4 clinical trial2018
Professor Steven Clifford
Dr Debbie Hicks
Dr Janet Lindsey
Dr Rebecca Hill
Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours2017
Dr Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Dr Debbie Hicks
Dr Anna Porter
et al.
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy2017
Dr Ed Schwalbe
Dr Debbie Hicks
Dr Reza Rafiee
Dr Matthew Bashton
Dr Amir Enshaei
et al.
Minimal methylation classifier (MIMIC): A novel method for derivation and rapid diagnostic detection of disease-associated DNA methylation signatures2017
Dr Ed Schwalbe
Dr Janet Lindsey
Dr Sirintra Nakjang
Dr Stephen Crosier
Amanda Smith
et al.
Novel molecular subgroups for clinical classification and outcome prediction in childhood medulloblastoma: a cohort study2017
Dr Stephen Crosier
Dr Debbie Hicks
Dr Ed Schwalbe
Dr Daniel Williamson
Sarah Nicholson
et al.
Centralised Molecular Pathology for Rare Tumours: A National Feasibility Study of Real-Time Medulloblastoma Diagnostics2016
Professor Steven Clifford
Dr Stephen Crosier
Dr Debbie Hicks
Stewart Nicholson
Dr Nicholas Bown
et al.
Establishment of national real-time central pathology review (CPR) and molecular diagnostics for medulloblastoma (MB)2016
Dr Ed Schwalbe
Dr Debbie Hicks
Professor Steven Clifford
Health-Related Quality of Life (HRQoL) in HIT-SIOP-PNET4 trial survivors: differences between medulloblastoma molecular subgroups2016
Dr Debbie Hicks
Dr Ed Schwalbe
Dr Stephen Crosier
Professor Simon Bailey
Dr Daniel Williamson
et al.
Identification of medulloblastoma molecular subgroups using metabolite profiles2016
Dr Debbie Hicks
Professor Steven Clifford
Molecular Subgrouping of Medulloblastoma with nanostring technology: A feasibility study for routine real-time procedures2016
Dr Ed Schwalbe
Dr Debbie Hicks
Dr Reza Rafiee
Dr Matthew Bashton
Dr Amir Enshaei
et al.
Routine Diagnostic Medulloblastoma Subgrouping Using Low-Cost, Low-Input DNA Methylomics: Application to Trials Cohorts Previously Refractory-to-Analysis2016
Dr Ed Schwalbe
Dr Debbie Hicks
Dr Reza Rafiee
Dr Matthew Bashton
Dr Amir Enshaei
et al.
Routine molecular subgrouping of medulloblastoma: Bridging the divide between research and the clinic using low-cost, mass spectrometry-based DNA methylomics2016
Dr Debbie Hicks
Dr Reza Rafiee
Dr Ed Schwalbe
Dr Christopher Howell
Dr Janet Lindsey
et al.
Subgroup-Directed Stratification of Risk in Infant Medulloblastoma2016
Dr Daniel Williamson
Dr Janet Lindsey
Dr Debbie Hicks
Dr Stephen Crosier
Amanda Smith
et al.
The Transcriptional Landscape of Medulloblastoma: Group 3 and Group 4 Tumours Comprise a Single Clinically Significant Expression Continuum2016
Professor Steven Clifford
Dr Ed Schwalbe
Dr Debbie Hicks
Kieran O'Toole
Sarah Nicholson
et al.
Biomarker-driven stratification of disease-risk in non-metastatic medulloblastoma: Results from the multi-center HIT-SIOP-PNET4 clinical trial2015
Professor Steven Clifford
Dr Ed Schwalbe
Dr Debbie Hicks
Kieran O'Toole
Sarah Nicholson
et al.
Biomarker-driven stratification of disease-risk in non-metastatic medulloblastoma: Results from the multi-center HIT-SIOP-PNET4 clinical trial2015
Emerita Professor Katherine Bushby
Dr Debbie Hicks
Collagen type VI myopathies2014
Emerita Professor Katherine Bushby
Dr Debbie Hicks
Collagen Type VI Myopathies2014
Dr Debbie Hicks
Dr Steven Laval
Dr Anna Sarkozy
Elena Martoni
Professor Hanns Lochmuller
et al.
Mutations in the Collagen XII gene define a new form of extracellular matrix related myopathy2014
Dr Debbie Hicks
Dr Steven Laval
Dr Anna Sarkozy
Elena Martoni
Professor Hanns Lochmuller
et al.
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy2014
Dr Debbie Hicks
Professor Volker Straub
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in human and mice2014
Dr Ed Schwalbe
Dr Debbie Hicks
Dr Reza Rafiee
Dr Amir Enshaei
Sandeep Potluri
et al.
Routine molecular subgrouping of medulloblastoma: Bridging the divide between research and the clinic using low-cost DNA methylomics2014
Dr Anna Sarkozy
Dr Debbie Hicks
Dr Steven Laval
Dr Rita Barresi
Dr Lizzie Harris
et al.
ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation2013
Dr Anna Sarkozy
Dr Debbie Hicks
Dr Steven Laval
Dr Rita Barresi
Dr Michela Guglieri
et al.
Clinical and molecular analysis of a large cohort of patients with anoctaminopathy2013
Dr Debbie Hicks
Emerita Professor Katherine Bushby
Collagen type VI myopathies2013
Dr Debbie Hicks
Professor Volker Straub
Collagen type XII: A new congenital matrix and muscle disease2013
Dr Debbie Hicks
Dr Steven Laval
Elena Martoni
Dr Asif Shah
Professor Hanns Lochmuller
et al.
Collagen XII as a new disease gene for Bethlem-like myopathy2013
Dr Debbie Hicks
Dr Steven Laval
Professor Hanns Lochmuller
Congenital myasthenic syndromes due to mutations in ALG2 and ALG142013
Dr Debbie Hicks
Dr Steven Laval
Professor Volker Straub
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
Investigating collagen VI biosynthesis and assembly in the context of ALG2 impairment in Ullrich/CMS-like family2013
Professor Volker Straub
Dr Debbie Hicks
Natural history of pulmonary function in collagen VI-related myopathies2013
Dr Anne Lampe
Emerita Professor Katherine Bushby
Dr Debbie Hicks
Collagen Type VI-related disorders2012
Dr Debbie Hicks
Elena Martoni
Professor Volker Straub
Professor Hanns Lochmuller
Dr Steven Laval
et al.
Identification of novel variants in patients with non-collagen VI Bethlem myopathy by the emerging technology of exomic sequencing2012
Dr Anna Sarkozy
Dr Debbie Hicks
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Professor Volker Straub
et al.
Muscle MRI findings in limb girdle muscular dystrophy type 2L2012
Dr Debbie Hicks
Dr Anna Sarkozy
Professor Hanns Lochmuller
Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis2012
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Professor Volker Straub
Dr Debbie Hicks
Dr Anna Sarkozy
et al.
NOVEL ANO5 GENE MUTATIONS, C.989DUPT AND C.2018A -> G CAUSING LIMB GIRDLE MUSCULAR DYSTROPHY 2L2012
Dr Debbie Hicks
Dr Anna Sarkozy
Dr Nuria Muelas Gomez
Dr Gavin Hudson
Professor Patrick Chinnery
et al.
A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy2011
Dr Debbie Hicks
Dr Anna Sarkozy
Dr Nuria Muelas Gomez
Dr Gavin Hudson
Professor Patrick Chinnery
et al.
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy2011
Dr Anna Sarkozy
Dr Debbie Hicks
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Muscle MRI findings in LGMD2L2011
Dr Anna Sarkozy
Dr Debbie Hicks
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Muscle MRI findings in anoctaminopathy2010
Dr Richard Charlton
Dr Anna Sarkozy
Dr Debbie Hicks
Emerita Professor Katherine Bushby
Dr Rita Barresi
et al.
Muscle protein profile in Anoctaminopathies2010
Dr Debbie Hicks
Dr Anna Sarkozy
Dr Nuria Muelas Gomez
Dr Gavin Hudson
Dr Rita Barresi
et al.
Mutations in ANO5 represent a common cause of non-dysferlin LGMD2B and Miyoshi myopathy2010
Dr Anna Sarkozy
Dr Rumaisa Bashir
Dr Debbie Hicks
Dr Rita Barresi
Dr Steven Laval
et al.
The first UK family with Ano5-associated myopathy2010
Dr Richard Charlton
Dr Debbie Hicks
Dr Mojgan Reza
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Chain-specific antibody testing of collagen VI: An additional pre-screening strategy for the diagnosis of Bethlem myopathy2009
Dr Debbie Hicks
Dr Anne Lampe
Dr Steven Laval
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue2009
Dr Debbie Hicks
Dr Anna Sarkozy
Dr Anne Lampe
Dr Fiona Norwood
Professor Volker Straub
et al.
EM.P.4.05 Bethlem myopathy; new insights on prevalence, phenotypic variability and genetic heterogeneity2009
Dr Debbie Hicks
Dr Anne Lampe
Dr Steven Laval
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Response to letter from Bernardi2009
Dr Debbie Hicks
Dr Anne Lampe
Dr Rita Barresi
Dr Richard Charlton
Professor Hanns Lochmuller
et al.
A refined diagnostic algorithm for Bethlem myopathy2008
Dr Anne Lampe
Dr Debbie Hicks
Dr Steven Laval
Dr Richard Charlton
Professor Volker Straub
et al.
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance2008
Dr Debbie Hicks
Dr Anne Lampe
Dr Steven Laval
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Testing therapies in neuromuscular disease: Oral presentations2008
Dr Anne Lampe
Emerita Professor Katherine Bushby
Dr Debbie Hicks
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations2006
Dr Anne Lampe
Dr Debbie Hicks
Dr John Hudson
Dr Steven Laval
Dr Richard Charlton
et al.
Development of a diagnostic algorithm for patients with a Bethlem myopathy clinical phenotype2006