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M

Miles C. Benton

queensland university of technology

H指数:21

被引数:1,990

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An ACOT4 Multi-Nucleotide Variant Is Associated with Cardiovascular Risk in Norfolk Island and UK Biobank Cohorts

ACOT4多核苷酸变异与诺福克岛和英国生物银行队列的心血管风险相关

IF2.8

2026-02-270

OAAI

Nanopore Sequencing Enables Allelic Phasing of FLG Loss-of-Function Variants, Intragenic Copy Number Variation, and Methylation Status in Atopic Dermatitis and Ichthyosis Vulgaris

JOURNAL OF INVESTIGATIVE DERMATOLOGY

IF5.7

2024-08-012

PRE

EpiDiP/NanoDiP: a versatile unsupervised machine learning edge computing platform for epigenomic tumour diagnostics

EpiDiP/NanoDiP: 用于表观基因组肿瘤诊断的多功能无监督机器学习边缘计算平台

ACTA NEUROPATHOLOGICA COMMUNICATIONS

IF5.7

2024-04-046

OAAI

Hench, Juergen; Hultschig, Claus; Brugger, Jon; Mariani, Luigi; Guzman, Raphael; Soleman, Jehuda; Leu, Severina; Benton, Miles; Stec, Irenaeus Maria; Hench, Ivana Bratic; Hoffmann, Per; Harter, Patrick; Weber, Katharina J.; Albers, Anne; Thomas, Christian; Hasselblatt, Martin; Schuller, Ulrich; Restelli, Lisa; Capper, David; Hewer, Ekkehard; Diebold, Joachim; Kolenc, Danijela; Schneider, Ulf C.; Rushing, Elisabeth; della Monica, Rosa; Chiariotti, Lorenzo; Sill, Martin; Schrimpf, Daniel; von Deimling, Andreas; Sahm, Felix; Kolsche, Christian; Tolnay, Markus; Frank, Stephan

Oxford nanopore next generation sequencing in a front-line clinical microbiology laboratory without on-site bioinformaticians

IF3

2024-04-016

PRE

Pedigree derived mutation rate across the entire mitochondrial genome of the Norfolk Island population

SCIENTIFIC REPORTS

IF3.9

2022-04-268

OAAI

Multi-phenotype genome-wide association studies of the Norfolk Island isolate implicate pleiotropic loci involved in chronic kidney disease

SCIENTIFIC REPORTS

IF3.9

2021-09-303

OAAI

A genome-wide methylation study of body fat traits in the Norfolk Island isolate

NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES

IF3.7

2021-05-015

PREAI

Investigating the influence of mtDNA and nuclear encoded mitochondrial variants on high intensity interval training outcomes

SCIENTIFIC REPORTS

IF3.9

2020-07-067

OAAI

Genome-wide DNA methylation analysis of heavy cannabis exposure in a New Zealand longitudinal cohort

TRANSLATIONAL PSYCHIATRY

IF6.2

2020-04-2231

OAAI

MicroRNA Profiling in Adipose Before and After Weight Loss Highlights the Role of miR-223-3p and the NLRP3 Inflammasome

IF4.7

2020-02-2415

OAAI

Variant Call Format-Diagnostic Annotation and Reporting Tool A Customizable Analysis Pipeline for Identification of Clinically Relevant Genetic Variants in Next-Generation Sequencing Data

JOURNAL OF MOLECULAR DIAGNOSTICS

IF3.4

2019-11-017

OAAI

Genome-wide allele-specific methylation is enriched at gene regulatory regions in a multi-generation pedigree from the Norfolk Island isolate

EPIGENETICS & CHROMATIN

IF3.5

2019-10-0811

OAAI

Genome-wide DNA methylation changes in CD19+ B cells from relapsing-remitting multiple sclerosis patients

SCIENTIFIC REPORTS

IF3.9

2018-11-2744

OAAI

Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case

FRONTIERS IN IMMUNOLOGY

IF5.9

2018-03-0530

OAAI

miRNA Signatures of Insulin Resistance in Obesity

IF4.7

2017-08-21125

OAAI

Differential methylation at MHC in CD4+ T cells is associated with multiple sclerosis independently of HLA-DRB1

CLINICAL EPIGENETICS

IF4.4

2017-07-1856

OAAI

Genome-wide DNA methylation analysis reveals loci that distinguish different types of adipose tissue in obese individuals

全基因组DNA甲基化分析揭示了区分肥胖个体不同类型脂肪组织的基因座

CLINICAL EPIGENETICS

IF4.4

2017-05-0326

OAAI

Methylome-wide association study of whole blood DNA in the Norfolk Island isolate identifies robust loci associated with age

IF3.9

2017-02-2832

OAAI

Next-generation sequencing reveals broad down-regulation of microRNAs in secondary progressive multiple sclerosis CD4+T cells

CLINICAL EPIGENETICS

IF4.4

2016-08-2745

OAAI

Genome-wide DNA methylation profiling of CD8+T cells shows a distinct epigenetic signature to CD4+T cells in multiple sclerosis patients

CLINICAL EPIGENETICS

IF4.4

2015-11-0573

OAAI