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Publications

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.

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.

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.

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

Klintman J. et al, (2019), British Journal of Haematology

Glucophosphate isomerase deficiency identified by next-generation sequencing

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

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

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.

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.

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.

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.

Klintman J. et al, (2018), Br J Haematol, 182, 412 - 417

Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.

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.

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.

Burns A. et al, (2018), Leukemia, 32

Characterisation of the changing genomic landscape of metastatic melanoma using cell free DNA.

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

Louka E. et al, (2017), HAEMATOLOGICA, 102, 265 - 265

EARLY LESSONS FROM WHOLE-GENOME SEQUENCING IN THE CLINICAL DIAGNOSIS OF RARE INHERITED ANAEMIAS

Roy N. et al, (2017), HAEMATOLOGICA, 102, 583 - 583

Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer.

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.

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

Roy N. et al, (2015), HAEMATOLOGICA, 100, 292 - 293

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