List of works - Jac Charlesworth

A genome-wide analysis of 'Bounty' descendants implicates several novel variants in migraine susceptibility

scientific article published on 8 June 2012

A linkage analysis of cigarette and alcohol consumption in an unselected Mexican American population

scientific article published in September 2008

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis

scientific article (publication date: 26 October 2010)

A retrospective examination of mean relative telomere length in the Tasmanian Familial Hematological Malignancies Study

scientific article

An Immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3

scientific article

An X chromosome association scan of the Norfolk Island genetic isolate provides evidence for a novel migraine susceptibility locus at Xq12.

scientific article

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci

scientific article published on 5 September 2008

Association between multiple sclerosis risk-associated SNPs and relapse and disability – a prospective cohort study

scientific article published on 25 July 2013

Common genetic variation within miR-146a predicts disease onset and relapse in multiple sclerosis

scientific article published on 10 November 2017

Comparison of pre-processing methodologies for Illumina 450k methylation array data in familial analyses.

scientific article

Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian Family

article

Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes

scientific article published on 16 September 2007

Evaluating a CLL susceptibility variant in ITGB2 in families with multiple subtypes of hematological malignancies

scientific article published on 10 May 2017

Genetic Analysis Workshop 17 mini-exome simulation

scientific article

Genetic Determinants of Epigenetic Patterns: Providing Insight into Disease.

scientific article

Genetic basis of neurocognitive decline and reduced white-matter integrity in normal human brain aging

scientific article

Genetic determinants of mitochondrial content

article

Genetic effects on DNA methylation and its potential relevance for obesity in Mexican Americans

scientific article

Genetic variation in PBMC-produced IFN-γ and TNF-α associations with relapse in multiple sclerosis

scientific article published on 19 December 2014

Genetic variation in the gene LRP2 increases relapse risk in multiple sclerosis.

scientific article

Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens

scientific article

Genotype×age interaction in human transcriptional ageing

scientific article published on 31 July 2012

Hepatic gene networks in morbidly obese patients with nonalcoholic fatty liver disease

scientific article

Heritability and genome-wide linkage analysis of migraine in the genetic isolate of Norfolk Island.

scientific article published on 14 December 2011

Heritability of Central Corneal Thickness in Nuclear Families

article

High dimensional endophenotype ranking in the search for major depression risk genes

scientific article published on 7 October 2011

Identity-by-descent mapping to detect rare variants conferring susceptibility to multiple sclerosis

scientific article

Integrating genomic analysis with the genetic basis of gene expression: preliminary evidence of the identification of causal genes for cardiovascular and metabolic traits related to nutrition in Mexicans.

scientific article published in July 2012

Linkage mapping of CVD risk traits in the isolated Norfolk Island population.

scientific article published on 31 October 2008

Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree

scientific article published on October 2005

Lipid-related genetic polymorphisms significantly modulate the association between lipids and disability progression in multiple sclerosis

scientific article published on 19 February 2019

Modulating effects of WT1 on interferon-β-vitamin D association in MS.

scientific article published on 14 October 2014

Multiple sclerosis risk variants regulate gene expression in innate and adaptive immune cells

scientific article published on 09 June 2020

Novel modulating effects of PKC family genes on the relationship between serum vitamin D and relapse in multiple sclerosis.

scientific article published on 18 July 2013

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

scientific article

Rediscovering the value of families for psychiatric genetics research

article

Role of genetic susceptibility variants in predicting clinical course in multiple sclerosis: a cohort study.

scientific article

Stimulated PBMC-produced IFN-γ and TNF-α are associated with altered relapse risk in multiple sclerosis: results from a prospective cohort study

scientific article published on May 2014

Systems genetics of the nuclear factor-κB signal transduction network. I. Detection of several quantitative trait loci potentially relevant to aging

scientific article published in December 2011

The genetics of multiple sclerosis

scientific article published on 01 October 2012

The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness

scientific article

The potential role of epigenetic modifications in the heritability of multiple sclerosis

scientific article published on February 2014

Transcriptomic epidemiology of smoking: the effect of smoking on gene expression in lymphocytes

scientific article

Transcriptomics of cortical gray matter thickness decline during normal aging

scientific article

Variation within MBP gene predicts disease course in multiple sclerosis

scientific article

List of works by Jac Charlesworth

A genome-wide analysis of 'Bounty' descendants implicates several novel variants in migraine susceptibility

A linkage analysis of cigarette and alcohol consumption in an unselected Mexican American population

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis

A retrospective examination of mean relative telomere length in the Tasmanian Familial Hematological Malignancies Study

An Immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3

An X chromosome association scan of the Norfolk Island genetic isolate provides evidence for a novel migraine susceptibility locus at Xq12.

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci

Association between multiple sclerosis risk-associated SNPs and relapse and disability – a prospective cohort study

Common genetic variation within miR-146a predicts disease onset and relapse in multiple sclerosis

Comparison of pre-processing methodologies for Illumina 450k methylation array data in familial analyses.

Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian Family

Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes

Evaluating a CLL susceptibility variant in ITGB2 in families with multiple subtypes of hematological malignancies

Genetic Analysis Workshop 17 mini-exome simulation

Genetic Determinants of Epigenetic Patterns: Providing Insight into Disease.

Genetic basis of neurocognitive decline and reduced white-matter integrity in normal human brain aging

Genetic determinants of mitochondrial content

Genetic effects on DNA methylation and its potential relevance for obesity in Mexican Americans

Genetic variation in PBMC-produced IFN-γ and TNF-α associations with relapse in multiple sclerosis

Genetic variation in the gene LRP2 increases relapse risk in multiple sclerosis.

Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens

Genotype×age interaction in human transcriptional ageing

Hepatic gene networks in morbidly obese patients with nonalcoholic fatty liver disease

Heritability and genome-wide linkage analysis of migraine in the genetic isolate of Norfolk Island.

Heritability of Central Corneal Thickness in Nuclear Families

High dimensional endophenotype ranking in the search for major depression risk genes

Identity-by-descent mapping to detect rare variants conferring susceptibility to multiple sclerosis

Integrating genomic analysis with the genetic basis of gene expression: preliminary evidence of the identification of causal genes for cardiovascular and metabolic traits related to nutrition in Mexicans.

Linkage mapping of CVD risk traits in the isolated Norfolk Island population.

Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree

Lipid-related genetic polymorphisms significantly modulate the association between lipids and disability progression in multiple sclerosis

Modulating effects of WT1 on interferon-β-vitamin D association in MS.

Multiple sclerosis risk variants regulate gene expression in innate and adaptive immune cells

Novel modulating effects of PKC family genes on the relationship between serum vitamin D and relapse in multiple sclerosis.

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

Rediscovering the value of families for psychiatric genetics research

Role of genetic susceptibility variants in predicting clinical course in multiple sclerosis: a cohort study.

Stimulated PBMC-produced IFN-γ and TNF-α are associated with altered relapse risk in multiple sclerosis: results from a prospective cohort study

Systems genetics of the nuclear factor-κB signal transduction network. I. Detection of several quantitative trait loci potentially relevant to aging

The genetics of multiple sclerosis

The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness

The potential role of epigenetic modifications in the heritability of multiple sclerosis

Transcriptomic epidemiology of smoking: the effect of smoking on gene expression in lymphocytes

Transcriptomics of cortical gray matter thickness decline during normal aging

Variation within MBP gene predicts disease course in multiple sclerosis