The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.
Journal article
Schwarze K. et al, (2020), Genet Med, 22, 85 - 94
The poor outcome in high molecular risk, hydroxycarbamide-resistant/intolerant ET is not ameliorated by ruxolitinib.
Journal article
O'Sullivan JM. et al, (2019), Blood, 134, 2107 - 2111
Correction: Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups.
Journal article
Burns A. et al, (2019), Leukemia, 33
Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL
Journal article
Klintman J. et al, (2019), British Journal of Haematology
Glucophosphate isomerase deficiency identified by next-generation sequencing
Conference paper
Vora SM. et al, (2019), BRITISH JOURNAL OF HAEMATOLOGY, 185, 118 - 118
Validation of clinical-grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly-diagnosed myeloma patients : a pilot study from the 100,000 Genomes Project
Conference paper
Lomas O. et al, (2019), BRITISH JOURNAL OF HAEMATOLOGY, 185, 101 - 101
Longitudinal Mutational Analysis in Hydroxycarbamide-Resistant/Intolerant Essential Thrombocythemia Treated on the Majic-ET Study
Conference paper
O'Sullivan J. et al, (2018), BLOOD, 132
The Light Chain IgLV3-21 Defines a New Poor Prognostic Subgroup in Chronic Lymphocytic Leukemia: Results of a Multicenter Study.
Journal article
Stamatopoulos B. et al, (2018), Clin Cancer Res, 24, 5048 - 5057
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.
Journal article
Robbe P. et al, (2018), Genet Med, 20, 1196 - 1205
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Journal article
Lenglet M. et al, (2018), Blood, 132, 469 - 483
Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL.
Conference paper
Klintman J. et al, (2018), Br J Haematol, 182, 412 - 417
Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.
Journal article
Schuh A. et al, (2018), Cold Spring Harb Mol Case Stud, 4
Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups.
Journal article
Burns A. et al, (2018), Leukemia, 32, 332 - 342
Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups.
Journal article
Burns A. et al, (2018), Leukemia, 32
Characterisation of the changing genomic landscape of metastatic melanoma using cell free DNA.
Journal article
Cutts A. et al, (2017), NPJ Genom Med, 2
COMBINATION OF DEEP PHENOTYPING AND TARGETED NEXT GENERATION SEQUENCING AS A DIAGNOSTIC TOOL IN CHILDREN WITH SUSPECTED MDS
Conference paper
Louka E. et al, (2017), HAEMATOLOGICA, 102, 265 - 265
EARLY LESSONS FROM WHOLE-GENOME SEQUENCING IN THE CLINICAL DIAGNOSIS OF RARE INHERITED ANAEMIAS
Poster
Roy N. et al, (2017), HAEMATOLOGICA, 102, 583 - 583
Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer.
Journal article
Purshouse K. et al, (2017), Cold Spring Harb Mol Case Stud, 3
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.
Journal article
Roy NBA. et al, (2016), Br J Haematol, 175, 318 - 330
RARE INHERITED ANAEMIAS: A CLINICAL-GRADE VALIDATED TARGETED RESEQUENCING PANEL YIELDS HIGH DIAGNOSTIC RATES AND IMPROVES TARGETED MANAGEMENT
Conference paper
Roy N. et al, (2015), HAEMATOLOGICA, 100, 292 - 293