Lista de obras - Rhian Gwilliam - Dominio Público Uruguay

A genome-wide association search for type 2 diabetes genes in African Americans

artículo científico publicado en 2012

A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21

artículo científico publicado en 2007

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

artículo científico publicado en 2009

A genotype calling algorithm for the Illumina BeadArray platform

artículo científico publicado en 2007

A second generation human haplotype map of over 3.1 million SNPs

artículo científico publicado en 2007

A variant in LDLR is associated with abdominal aortic aneurysm

scientific journal article

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

artículo científico publicado en 2011

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies

artículo científico publicado en 2009

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

artículo científico publicado en 2011

Common variants near MC4R are associated with fat mass, weight and risk of obesity

artículo científico publicado en 2008

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

scholarly article published in Nature Genetics

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

article

Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

artículo científico publicado en 2008

Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease

artículo científico publicado en 2010

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

artículo científico publicado en 2019

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

artículo científico publicado en 2011

Genome-wide and fine-resolution association analysis of malaria in West Africa

artículo científico publicado en 2009

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

artículo científico publicado en 2013

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

artículo científico publicado en 2008

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

artículo científico publicado en 2009

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

artículo científico publicado en 2010

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

artículo científico publicado en 2009

Genome-wide detection and characterization of positive selection in human populations

artículo científico publicado en 2007

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Genomic organization of human CDS2 and evaluation as a candidate gene for corneal hereditary endothelial dystrophy 2 on chromosome 20p13.

artículo científico publicado en 2002

High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation

artículo científico publicado en 2012

IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease

artículo científico publicado en 2007

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

artículo científico publicado en 2011

Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship

artículo científico publicado en 2008

Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q

artículo científico publicado en 2009

Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size

artículo científico publicado en 2009

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

scientific article published on 15 October 2008

Multiple common variants for celiac disease influencing immune gene expression

artículo científico publicado en 2010

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

artículo científico publicado en 2010

Newly identified genetic risk variants for celiac disease related to the immune response

artículo científico publicado en 2008

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

artículo científico publicado en 2012

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy ⬇️

artículo científico publicado en 2007

Observational study on variability between biobanks in the estimation of DNA concentration

artículo científico publicado en 2009

Population genetic analysis of Plasmodium falciparum parasites using a customized Illumina GoldenGate genotyping assay

artículo científico publicado en 2011

Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression

artículo científico publicado en 2012

Replication by the Epistasis Project of the interaction between the genes for IL-6 and IL-10 in the risk of Alzheimer's disease

artículo científico publicado en 2009

The DNA sequence of the human X chromosome

artículo científico publicado en 2005

The dopamine β-hydroxylase -1021C/T polymorphism is associated with the risk of Alzheimer's disease in the Epistasis Project

artículo científico publicado en 2010

The mei3 region of the Schizosaccharomyces pombe genome

artículo científico publicado en 2002

The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease

artículo científico publicado en 2012

Transcript-specific, single-nucleotide polymorphism discovery and linkage analysis in hexaploid bread wheat (Triticum aestivum L.).

artículo científico publicado en 2011

Transferrin and HFE genes interact in Alzheimer's disease risk: the Epistasis Project

artículo científico publicado en 2010

Lista de obras de Rhian Gwilliam

A genome-wide association search for type 2 diabetes genes in African Americans

A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

A genotype calling algorithm for the Illumina BeadArray platform

A second generation human haplotype map of over 3.1 million SNPs

A variant in LDLR is associated with abdominal aortic aneurysm

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

Common variants near MC4R are associated with fat mass, weight and risk of obesity

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Genome-wide and fine-resolution association analysis of malaria in West Africa

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

Genome-wide detection and characterization of positive selection in human populations

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

Genomic organization of human CDS2 and evaluation as a candidate gene for corneal hereditary endothelial dystrophy 2 on chromosome 20p13.

High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation

IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship

Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q

Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

Multiple common variants for celiac disease influencing immune gene expression

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Newly identified genetic risk variants for celiac disease related to the immune response

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy ⬇️

Observational study on variability between biobanks in the estimation of DNA concentration

Population genetic analysis of Plasmodium falciparum parasites using a customized Illumina GoldenGate genotyping assay

Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression

Replication by the Epistasis Project of the interaction between the genes for IL-6 and IL-10 in the risk of Alzheimer's disease

The DNA sequence of the human X chromosome

The dopamine β-hydroxylase -1021C/T polymorphism is associated with the risk of Alzheimer's disease in the Epistasis Project

The mei3 region of the Schizosaccharomyces pombe genome

The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease

Transcript-specific, single-nucleotide polymorphism discovery and linkage analysis in hexaploid bread wheat (Triticum aestivum L.).

Transferrin and HFE genes interact in Alzheimer's disease risk: the Epistasis Project