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Author Details

David R Bentley
Illumina Cambridge Ltd.
1982
181
76
PMIDPaper TitleJournal TitlePublished Year
36658389Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia.Leukemia2023
37216686The genomic landscape of acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21.Blood2023
36550215Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial.Leukemia2023
36658389Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia.Leukemia2023
37216686The genomic landscape of acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21.Blood2023
36550215Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial.Leukemia2023
36171418Publisher Correction: Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data.Pharmacogenomics J2022
36171418Publisher Correction: Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data.Pharmacogenomics J2022
36333502Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features.Nat Genet2022
36333502Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features.Nat Genet2022
33462347Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data.Pharmacogenomics J2021
33462347Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data.Pharmacogenomics J2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
32345345ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.Genome Biol2020
32345345ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.Genome Biol2020
30293986Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.Genet Med2019
31856913Paragraph: a graph-based structural variant genotyper for short-read sequence data.Genome Biol2019
30293986Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.Genet Med2019
31134279ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.Bioinformatics2019
31316144Correction: Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroups.Leukemia2019
31856913Paragraph: a graph-based structural variant genotyper for short-read sequence data.Genome Biol2019
31316144Correction: Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroups.Leukemia2019
31134279ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.Bioinformatics2019
28584254Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroups.Leukemia2018
28584254Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroups.Leukemia2018
29930474Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in <i>PAX6</i> in a South African family.Mol Vis2018
29388947Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.Genet Med2018
29160863Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroups.Leukemia2018
29808933Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL.Br J Haematol2018
29808933Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL.Br J Haematol2018
29930474Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in <i>PAX6</i> in a South African family.Mol Vis2018
29388947Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.Genet Med2018
29160863Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroups.Leukemia2018
27903644A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.Genome Res2017
28887402Detection of long repeat expansions from PCR-free whole-genome sequence data.Genome Res2017
29263824Base resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma.NPJ Genom Med2017
27903644A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.Genome Res2017
29263824Base resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma.NPJ Genom Med2017
28887402Detection of long repeat expansions from PCR-free whole-genome sequence data.Genome Res2017
27161491The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes.Nat Commun2016
27264733Erratum: The somatic mutation profiles of 2,433 breast cancers refine their genomic and transcriptomic landscapes.Nat Commun2016
27161491The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes.Nat Commun2016
27264733Erratum: The somatic mutation profiles of 2,433 breast cancers refine their genomic and transcriptomic landscapes.Nat Commun2016
25537359Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'.Eur J Hum Genet2015
25916844TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer.Nucleic Acids Res2015
25537359Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'.Eur J Hum Genet2015
25732040Glioblastoma adaptation traced through decline of an IDH1 clonal driver and macro-evolution of a double-minute chromosome.Ann Oncol2015
25985138Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.Nat Genet2015
26530965Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer.Nat Commun2015
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Collaborators

Illumina Cambridge Ltd.
Co-authored papers 37
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 30
European Bioinformatics Institute
Co-authored papers 27
Illumina Ltd.
Co-authored papers 26
The Wellcome Trust Sanger Institute
Co-authored papers 25
Co-authored papers 24
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 19
4Wellcome Trust Sanger Institute
Co-authored papers 16
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Wellcome Sanger Institute
Co-authored papers 13
University of Oxford
Co-authored papers 12
Illumina Ltd
Co-authored papers 12
Institute of Biotechnology, University of Cambridge
Co-authored papers 11
Co-authored papers 11
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 11
University of Cambridge
Co-authored papers 10
UCL Cancer Institute, University College London
Co-authored papers 10
University of Cambridge
Co-authored papers 10
The Wellcome Trust Sanger Institute
Co-authored papers 10
Big Data Institute, University of Oxford
Co-authored papers 10
Co-authored papers 9
University of Oxford
Co-authored papers 9
Co-authored papers 9
The Wellcome Trust Sanger Institute
Co-authored papers 9
Co-authored papers 9
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University of Oxford
Co-authored papers 9
BioMarin Pharmaceutical Inc.
Co-authored papers 9
Inivata Ltd.
Co-authored papers 9
Co-authored papers 8