J. Mason

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Targeted deep sequencing reveals clinically relevant subclonal IgHV rearrangements in chronic lymphocytic leukemia

L. Lopez, D. Vavoulis, A. Schuh, 2017, Leukemia.

Targeted resequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression

M. Calasanz, C. Mecucci, M. Larrayoz, 2015, Leukemia.

NUP98‐NSD1 fusion in association with FLT3‐ITD mutation identifies a prognostically relevant subgroup of pediatric acute myeloid leukemia patients suitable for monitoring by real time quantitative PCR

S. Akiki, D. Grimwade, J. Borrow, 2013, Genes, chromosomes & cancer.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Timothy A. Miller, Jennifer E. Phillips-Cremins, Lilah M. Besser, 2020, Neuron.

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

D. Steinemann, Alison M. Male, J. Fitzgibbon, 2020, Nature Communications.

Guidelines for the measurement of BCR‐ABL1 transcripts in chronic myeloid leukaemia

N. Cross, H. White, L. Foroni, 2011, British journal of haematology.

A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

D. Ferguson, D. Higgs, A. Schuh, 2016, British journal of haematology.

Novel CE-Marked SARS-CoV-2 IVD Assay Solves the Problem for Genomic DNA Contamination

Jessica M. C. Marvin, M. Szynkiewicz, J. Mason, 2021, Current Trends in Medical Diagnostic Methods.

Molecular diagnosis of

M. Griffiths, J. Mason, 2012 .

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Timothy A. Miller, Sonja W. Scholz, Jennifer E. Phillips-Cremins, 2020, Neuron.

Pitfalls in molecular diagnosis in haemato-oncology

S. Akiki, M. Griffiths, J. Mason, 2011, Journal of Clinical Pathology.

Acquired Isodisomy for chromosome 13 is common in AML, and associated with FLT3-itd mutations

S. Akiki, D. McMullan, M. Griffiths, 2005, Leukemia.

Consensus on BCR‐ABL1 reporting in chronic myeloid leukaemia in the UK

A. Mead, M. Copland, N. Cross, 2018, British journal of haematology.

Hydroxymethylation profile of cell-free DNA is a biomarker for early colorectal cancer

Albert J. Vilella, Casper K Lumby, Jordan M. Eizenga, 2021, Scientific Reports.

Molecular Detection of Minimal Residual Disease Provides the Most Powerful Independent Prognostic Factor Irrespective of Clonal Architecture in Nucleophosmin (NPM1) Mutant Acute Myeloid Leukemia

P. Vyas, M. Simpson, R. Hills, 2014 .

Origin and subset distribution of peripheral blood dendritic cells in patients with chronic graft-versus-host disease1

C. Craddock, P. Moss, P. Mahendra, 2003, Transplantation.

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project

Clare Verrill, Niko Popitsch, Pavlos Antoniou, 2018, Genetics in Medicine.

Assessment of Minimal Residual Disease in Standard-Risk AML.

Yashma Patel, Robert K Hills, Hassan Farah, 2016, The New England journal of medicine.

Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL

Etienne Rouleau, Michael Hummel, Antonio Marchetti, 2016, Virchows Archiv.

A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

Katherine R. Smith, M. B. Pereira, A. Need, 2021, Nature Cancer.

Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma

Katherine R. Smith, M. B. Pereira, A. Need, 2021, Scientific Reports.

Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLL.

A. Pettitt, S. Knight, Jenny C. Taylor, 2015, Blood.

Presence of multiple recurrent mutations revealed by targeted NGS confers poor trial outcome of relapsed / refractory CLL

A. Pettitt, S. Knight, Jenny C. Taylor, 2015 .

Hypomethylation of p53 in peripheral blood DNA is associated with the development of lung cancer.

D. Albanes, J. Virtamo, P. Taylor, 2001, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

D. Steinemann, Alison M. Male, J. Fitzgibbon, 2020, Nature Communications.

Molecular diagnosis of leukemia

M. Griffiths, J. Mason, 2012, Expert review of molecular diagnostics.

Detection of minimal residual disease in leukaemia by RT-PCR.

M. Griffiths, J. Mason, 2011, Methods in molecular biology.

Monitoring of chimerism following allogeneic haematopoietic stem cell transplantation (HSCT): Technical recommendations for the use of Short Tandem Repeat (STR) based techniques, on behalf of the United Kingdom National External Quality Assessment Service for Leucocyte Immunophenotyping Chimerism Wo

J. Snowden, J. Reilly, D. Barnett, 2015, British journal of haematology.

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Katherine R. Smith, M. Kayikci, D. Smedley, 2022, The Lancet Neurology.

Genomic DNA hypomethylation, a characteristic of most cancers, is present in peripheral leukocytes of individuals who are homozygous for the C677T polymorphism in the methylenetetrahydrofolate reductase gene.

J. Mason, J. Selhub, S. Choi, 2000, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Katherine R. Smith, M. B. Pereira, A. Need, 2021, Brain : a journal of neurology.

A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder

K. Downes, N. Morgan, K. Freson, 2021, Platelets.

Results of the “Evaluation of NGS in AML-Diagnostics (ELAN)” Study – an Inter-Laboratory Comparison Performed in 10 European Laboratories

C. Eberlein, L. Bullinger, K. Döhner, 2014 .

Development and Evaluation of the Clinical Utility of a Next Generation Sequencing (NGS) Tool for Myeloid Disorders

P. Vyas, A. Mead, A. Schuh, 2014 .

A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

D. Ferguson, D. Higgs, A. Schuh, 2016, British journal of haematology.

Monitoring of chimerism following allogeneic haematopoietic stem cell transplantation (HSCT): Technical recommendations for the use of Short Tandem Repeat (STR) based techniques, on behalf of the United Kingdom National External Quality Assessment Service for Leucocyte Immunophenotyping Chimerism Wo

J. Snowden, J. Reilly, D. Barnett, 2015, British journal of haematology.