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ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

Bioinformatics, 2019-11, Vol.35 (22), p.4754-4756

2019

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Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

Genetics in medicine, 2019-05, Vol.21 (5), p.1121-1130

2019

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Whole-genome re-sequencing

Current opinion in genetics & development, 2006-12, Vol.16 (6), p.545-552

Bentley, David R

2006

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Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

Cell genomics, 2023-02, Vol.3 (2), p.100258-100258, Article 100258

2023

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Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Genetics in medicine, 2020-05, Vol.22 (5), p.945-953

2020

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Clinical factors and ABCB1 polymorphisms in prediction of antiepileptic drug response: a prospective cohort study

Lancet neurology, 2006-08, Vol.5 (8), p.668-676

2006

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Erratum: The somatic mutation profiles of 2,433 breast cancers refine their genomic and transcriptomic landscapes

Nature communications, 2016-06, Vol.7 (1), p.11908-11908, Article 11908

2016

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Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia

Leukemia, 2023-03, Vol.37 (3), p.518-528

2023

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A validated tumorgraft model reveals activity of dovitinib against renal cell carcinoma

Science translational medicine, 2012-06, Vol.4 (137), p.137ra75

2012

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Chromosome 20 deletions in myeloid malignancies : reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes

Oncogene, 2000-08, Vol.19 (34), p.3902-3913

2000

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Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Npj genomic medicine, 2019-02, Vol.4 (1), p.5-5, Article 5

2019

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Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment

European journal of human genetics : EJHG, 2014-10, Vol.22 (10), p.1165-1171

2014

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Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'

European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1113-1115

2015

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Common ABCB1 polymorphisms are not associated with multidrug resistance in epilepsy using a gene-wide tagging approach

Pharmacogenetics and genomics, 2007-03, Vol.17 (3), p.217-220

2007

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Q8IYL2 is a candidate gene for the familial epilepsy syndrome of Partial Epilepsy with Pericentral Spikes (PEPS)

Epilepsy research, 2011-09, Vol.96 (1), p.109-115

2011

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The sequences of the human sex chromosomes

Current opinion in genetics & development, 2006-06, Vol.16 (3), p.213-218

2006

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Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

Nature communications, 2014-06, Vol.5 (1), p.3934-3934, Article 3934

2014

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Genome Sequencing and Analysis of the Tasmanian Devil and Its Transmissible Cancer

Cell, 2012-02, Vol.148 (4), p.780-791

2012

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The association between polymorphisms in RLIP76 and drug response in epilepsy

Pharmacogenomics, 2007-12, Vol.8 (12), p.1715-1722

2007

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Exon Structure of the Human Dystrophin Gene

Genomics (San Diego, Calif.), 1993-05, Vol.16 (2), p.536-538

1993

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The Confederation Group of Canadian poets, 1880-1897

The Confederation Group of Canadian poets, 1880-1897, 2004

Bentley, D. M. R

1, 2004

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Integrating ethics and science in the International HapMap Project

Nature reviews. Genetics, 2004-06, Vol.5 (6), p.467-475

Foster, Morris W

2004

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ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

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

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

Whole-genome re-sequencing

The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes

Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Clinical factors and ABCB1 polymorphisms in prediction of antiepileptic drug response: a prospective cohort study

Erratum: The somatic mutation profiles of 2,433 breast cancers refine their genomic and transcriptomic landscapes

Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia

A validated tumorgraft model reveals activity of dovitinib against renal cell carcinoma

Chromosome 20 deletions in myeloid malignancies : reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment

Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'

Common ABCB1 polymorphisms are not associated with multidrug resistance in epilepsy using a gene-wide tagging approach

The somatic mutation profiles of 2,433 breast cancers refine their genomic and transcriptomic landscapes

Q8IYL2 is a candidate gene for the familial epilepsy syndrome of Partial Epilepsy with Pericentral Spikes (PEPS)

The sequences of the human sex chromosomes

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

Genome Sequencing and Analysis of the Tasmanian Devil and Its Transmissible Cancer

The association between polymorphisms in RLIP76 and drug response in epilepsy

Exon Structure of the Human Dystrophin Gene

The Confederation Group of Canadian poets, 1880-1897

Integrating ethics and science in the International HapMap Project

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