List of works - David L. Duffy

A method for meta-analysis of molecular association studies

scientific article published in May 2005

A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation

scientific article

Systematic review and meta-analysis of the association between {beta}2-adrenoceptor polymorphisms and asthma: a HuGE review.

scientific article

Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?

scientific article

Recent human effective population size estimated from linkage disequilibrium

scientific article published on 9 March 2007

A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

scientific article published on 13 November 2011

Identification of IL6R and chromosome 11q13.5 as risk loci for asthma

scientific article

Genetics of asthma and hay fever in Australian twins.

scientific article published on December 1990

Common variants in the trichohyalin gene are associated with straight hair in Europeans

scientific article

A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color

scientific article

Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi

scientific article

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

scientific article

Common sequence variants on 20q11.22 confer melanoma susceptibility

scientific article published on 18 May 2008

MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations

scientific article

Genome-wide association study identifies novel loci predisposing to cutaneous melanoma

scientific article

Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization

scientific article

Interactive effects of MC1R and OCA2 on melanoma risk phenotypes

scientific article

Linkage of Asthma and Total Serum IgE Concentration to Markers on Chromosome 12q: Evidence from Afro-Caribbean and Caucasian Populations

article

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

scientific journal article

A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation

scientific article

Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins

scientific article

Genetic influences on handedness: data from 25,732 Australian and Dutch twin families

scientific article

Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles

scientific article

Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma

scientific article published on 27 August 2009

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

scientific article

Digital quantification of human eye color highlights genetic association of three new loci

scientific article

Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype

scientific article

A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability

scientific article

Natural selection and quantitative genetics of life-history traits in Western women: a twin study

scientific article published in February 2001

CDKN2A Variants in a Population-Based Sample of Queensland Families With Melanoma

scientific article published on 01 March 1999

Exploring the association between severe respiratory syncytial virus infection and asthma: a registry-based twin study

scientific article published on 12 March 2009

Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26.

scientific article

Latent class and genetic analysis does not support migraine with aura and migraine without aura as separate entities

article

Maternal Cigarette Smoking and Oral Clefts: A Meta-analysis

scientific article published in May 1997

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology

scientific article published on 30 October 2017

Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly

scientific article

IRF4 variants have age-specific effects on nevus count and predispose to melanoma

scientific article

Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci

scientific article

Psoriasis in Australian twins.

scientific article

Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia

scientific article

Novel variants in growth differentiation factor 9 in mothers of dizygotic twins

scientific article

Red hair is the null phenotype of MC1R.

scientific article published in August 2008

Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.

scientific article

The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes.

scientific article

Application of transmission disequilibrium tests to nonsyndromic oral clefts: Including candidate genes and environmental exposures in the models

scientific article published on 19 December 1997

A genome-wide scan for naevus count: linkage to CDKN2A and to other chromosome regions

article published in 2006

A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q.

scientific article

Genetic and Environmental Risk Factors for Asthma

scientific article published on 01 March 1998

Human pigmentation genes under environmental selection

scientific article published on September 26, 2012

Opposite effects of androgen receptor CAG repeat length on increased risk of left-handedness in males and females

scientific article

List of works by David L. Duffy

A method for meta-analysis of molecular association studies

A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation

Systematic review and meta-analysis of the association between {beta}2-adrenoceptor polymorphisms and asthma: a HuGE review.

Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?

Recent human effective population size estimated from linkage disequilibrium

A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

Identification of IL6R and chromosome 11q13.5 as risk loci for asthma

Genetics of asthma and hay fever in Australian twins.

Common variants in the trichohyalin gene are associated with straight hair in Europeans

A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color

Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

Common sequence variants on 20q11.22 confer melanoma susceptibility

MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations

Genome-wide association study identifies novel loci predisposing to cutaneous melanoma

Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization

Interactive effects of MC1R and OCA2 on melanoma risk phenotypes

Linkage of Asthma and Total Serum IgE Concentration to Markers on Chromosome 12q: Evidence from Afro-Caribbean and Caucasian Populations

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation

Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins

Genetic influences on handedness: data from 25,732 Australian and Dutch twin families

Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles

Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

Digital quantification of human eye color highlights genetic association of three new loci

Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype

A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability

Natural selection and quantitative genetics of life-history traits in Western women: a twin study

CDKN2A Variants in a Population-Based Sample of Queensland Families With Melanoma

Exploring the association between severe respiratory syncytial virus infection and asthma: a registry-based twin study

Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26.

Latent class and genetic analysis does not support migraine with aura and migraine without aura as separate entities

Maternal Cigarette Smoking and Oral Clefts: A Meta-analysis

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology

Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly

IRF4 variants have age-specific effects on nevus count and predispose to melanoma

Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci

Psoriasis in Australian twins.

Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia

Novel variants in growth differentiation factor 9 in mothers of dizygotic twins

Red hair is the null phenotype of MC1R.

Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.

The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes.

Application of transmission disequilibrium tests to nonsyndromic oral clefts: Including candidate genes and environmental exposures in the models

A genome-wide scan for naevus count: linkage to CDKN2A and to other chromosome regions

A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q.

Genetic and Environmental Risk Factors for Asthma

Human pigmentation genes under environmental selection

Opposite effects of androgen receptor CAG repeat length on increased risk of left-handedness in males and females