Publications by authors named "Miles Benton"

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Nanopore Sequencing Enables Allelic Phasing of FLG Loss-of-Function Variants, Intragenic Copy Number Variation, and Methylation Status in Atopic Dermatitis and Ichthyosis Vulgaris.
Colin Wong, Cheng-Yong Tham, Lin Yang, Miles C Benton, Vipin Narang

J Invest Dermatol· August 2024

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Oxford nanopore next generation sequencing in a front-line clinical microbiology laboratory without on-site bioinformaticians.
Max Bloomfield, Samantha Hutton, Charles Velasco, Megan Burton, Miles Benton

Pathology· April 2024

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EpiDiP/NanoDiP: a versatile unsupervised machine learning edge computing platform for epigenomic tumour diagnostics.
Jürgen Hench, Claus Hultschig, Jon Brugger, Luigi Mariani, Raphael Guzman, Miles Benton

Acta Neuropathol Commun· April 2024

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Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling.
Hui-Lin Chin, Miles C Benton, Lin Yang, Kok Siong Poon, Karen M L Tan

Mol Genet Genomic Med· January 2024

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Exploring the Functional Basis of Epigenetic Aging in Relation to Body Fat Phenotypes in the Norfolk Island Cohort.
Thao Van Cao, Heidi G Sutherland, Miles C Benton, Larisa M Haupt, Rodney A Lea

Curr Issues Mol Biol· September 2023

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Evaluating the suitability of current mitochondrial DNA interpretation guidelines for multigenerational whole mitochondrial genome comparisons.
Jasmine R Connell, Miles C Benton, Rodney A Lea, Heidi G Sutherland, Larisa M Haupt

J Forensic Sci· September 2022

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Capturing SNP Association across the NK Receptor and HLA Gene Regions in Multiple Sclerosis by Targeted Penalised Regression Models.
Sean M Burnard, Rodney A Lea, Miles Benton, David Eccles, Daniel W Kennedy

Genes (Basel)· December 2021

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Multi-phenotype genome-wide association studies of the Norfolk Island isolate implicate pleiotropic loci involved in chronic kidney disease.
Ngan K Tran, Rodney A Lea, Samuel Holland, Quan Nguyen, Arti M Raghubar, Miles C Benton

Sci Rep· September 2021

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A genome-wide methylation study of body fat traits in the Norfolk Island isolate.
Van T Cao, Rodney A Lea, Heidi G Sutherland, Miles C Benton, Reza S Pishva

Nutr Metab Cardiovasc Dis· May 2021

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DNA methylation in blood-Potential to provide new insights into cell biology.
Donia Macartney-Coxson, Alanna M Cameron, Jane Clapham, Miles C Benton

PLoS One· December 2020

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Tiered analysis of whole-exome sequencing for epilepsy diagnosis.
Paul J Dunn, Bridget H Maher, Cassie L Albury, Shani Stuart, Heidi G Sutherland, Miles C Benton

Mol Genet Genomics· May 2020

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Genome-wide DNA methylation analysis of heavy cannabis exposure in a New Zealand longitudinal cohort.
Amy J Osborne, John F Pearson, Alexandra J Noble, Neil J Gemmell, L John Horwood, Miles C Benton

Transl Psychiatry· April 2020

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MicroRNA Profiling in Adipose Before and After Weight Loss Highlights the Role of miR-223-3p and the NLRP3 Inflammasome.
Donia Macartney-Coxson, Kirsty Danielson, Jane Clapham, Miles C Benton, Alice Johnston

Obesity (Silver Spring)· March 2020

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Variant Call Format-Diagnostic Annotation and Reporting Tool: A Customizable Analysis Pipeline for Identification of Clinically Relevant Genetic Variants in Next-Generation Sequencing Data.
Miles C Benton, Robert A Smith, Larisa M Haupt, Heidi G Sutherland, Paul J Dunn

J Mol Diagn· November 2019

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Genome-wide allele-specific methylation is enriched at gene regulatory regions in a multi-generation pedigree from the Norfolk Island isolate.
Miles C Benton, Rodney A Lea, Donia Macartney-Coxson, Heidi G Sutherland, Nicole White

Epigenetics Chromatin· October 2019

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Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.
Gabrielle Bradshaw, Robbie R Lualhati, Cassie L Albury, Neven Maksemous, Deidre Roos-Araujo, Miles C Benton

Front Immunol· June 2019

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Critical evaluation of linear regression models for cell-subtype specific methylation signal from mixed blood cell DNA.
Daniel W Kennedy, Nicole M White, Miles C Benton, Andrew Fox, Rodney J Scott

PLoS One· May 2019

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Genome-wide DNA methylation changes in CD19 B cells from relapsing-remitting multiple sclerosis patients.
Vicki E Maltby, Rodney A Lea, Moira C Graves, Katherine A Sanders, Miles C Benton

Sci Rep· November 2018

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Differential methylation at in CD4 T cells is associated with multiple sclerosis independently of .
Vicki E Maltby, Rodney A Lea, Katherine A Sanders, Nicole White, Miles C Benton

Clin Epigenetics· April 2018

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Genome-wide linkage and association analysis of primary open-angle glaucoma endophenotypes in the Norfolk Island isolate.
Elizabeth Matovinovic, Pik Fang Kho, Rodney A Lea, Miles C Benton, David A Eccles

Mol Vis· April 2018

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Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.
Paul Dunn, Cassie L Albury, Neven Maksemous, Miles C Benton, Heidi G Sutherland

Front Genet· February 2018

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Genome-wide DNA methylation analysis reveals loci that distinguish different types of adipose tissue in obese individuals.
Donia Macartney-Coxson, Miles C Benton, Ray Blick, Richard S Stubbs, Ronald D Hagan

Clin Epigenetics· January 2018

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Expression QTL analysis of glaucoma endophenotypes in the Norfolk Island isolate provides evidence that immune-related genes are associated with optic disc size.
Pik Fang Kho, Rodney A Lea, Miles C Benton, David Eccles, Larisa M Haupt

J Hum Genet· January 2018

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miRNA Signatures of Insulin Resistance in Obesity.
Angela Jones, Kirsty M Danielson, Miles C Benton, Olivia Ziegler, Ravi Shah

Obesity (Silver Spring)· October 2017

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Accounting for cell lineage and sex effects in the identification of cell-specific DNA methylation using a Bayesian model selection algorithm.
Nicole White, Miles Benton, Daniel Kennedy, Andrew Fox, Lyn Griffiths

PLoS One· October 2017

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