Lista de obras - Cleo C van Diemen - Dominio Público Uruguay

A Genome-Wide Linkage Study for Chronic Obstructive Pulmonary Disease in a Dutch Genetic Isolate Identifies Novel Rare Candidate Variants

artículo científico publicado en 2018

A next-generation sequencing method for gene doping detection that distinguishes low levels of plasmid DNA against a background of genomic DNA

scientific article published on 11 July 2019

A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).

artículo científico publicado en 2015

Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease

artículo científico publicado en 2010

COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression

artículo científico publicado en 2018

Correction: Susceptibility to chronic mucus hypersecretion, a genome wide association study

artículo científico publicado en 2015

Correlation of genetic risk and messenger RNA expression in a Th17/IL23 pathway analysis in inflammatory bowel disease

artículo científico publicado en 2014

DNA methylation in childhood asthma: an epigenome-wide meta-analysis

artículo científico publicado en 2018

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

artículo científico publicado en 2011

Erratum: Corrigendum: Genetic Analysis in A Dutch Study Sample Identifies More Ulcerative Colitis Susceptibility Loci and Shows Their Additive Role in Disease Risk

scholarly article published in The American Journal of Gastroenterology

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

artículo científico publicado en 2017

Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans

artículo científico publicado en 2013

GAVIN - Gene-Aware Variant INterpretation for medical sequencing

article

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

artículo científico publicado en 2017

Genetic Susceptibility and Predictors of Paradoxical Reactions in Buruli Ulcer

artículo científico publicado en 2016

Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk

artículo científico publicado en 2009

Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.

artículo científico publicado en 2008

Genome-wide association study on the FEV1/FVC ratio in never-smokers identifies HHIP and FAM13A.

artículo científico publicado en 2016

Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants

artículo científico publicado en 2013

Long-term Air Pollution Exposure, Genome-wide DNA Methylation and Lung Function in the LifeLines Cohort Study

artículo científico publicado en 2018

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

artículo científico publicado en 2013

OR7-002 – Pyrin 577 mutations in dominant autoinflammation.

artículo científico publicado en 2013

Occupational exposure to pesticides is associated with differential DNA methylation.

artículo científico publicado en 2018

Participation in interdisciplinary meetings on genetic diagnostics (NGS).

artículo científico publicado en 2017

Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2

artículo científico publicado en 2016

Rapid Targeted Genomics in Critically Ill Newborns.

artículo científico publicado en 2017

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

artículo científico publicado en 2011

Susceptibility to chronic mucus hypersecretion, a genome wide association study

artículo científico publicado en 2014

The Well-Known Gene HHIP and Novel Gene MECR Are Implicated in Small Airway Obstruction

artículo científico publicado en 2016

The emerging landscape of dynamic DNA methylation in early childhood

artículo científico publicado en 2017

Understanding the role of the chromosome 15q25.1 in COPD through epigenetics and transcriptomics

artículo científico publicado en 2018

Lista de obras de Cleo C van Diemen

A Genome-Wide Linkage Study for Chronic Obstructive Pulmonary Disease in a Dutch Genetic Isolate Identifies Novel Rare Candidate Variants

A next-generation sequencing method for gene doping detection that distinguishes low levels of plasmid DNA against a background of genomic DNA

A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).

Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease

COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression

Correction: Susceptibility to chronic mucus hypersecretion, a genome wide association study

Correlation of genetic risk and messenger RNA expression in a Th17/IL23 pathway analysis in inflammatory bowel disease

DNA methylation in childhood asthma: an epigenome-wide meta-analysis

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

Erratum: Corrigendum: Genetic Analysis in A Dutch Study Sample Identifies More Ulcerative Colitis Susceptibility Loci and Shows Their Additive Role in Disease Risk

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans

GAVIN - Gene-Aware Variant INterpretation for medical sequencing

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

Genetic Susceptibility and Predictors of Paradoxical Reactions in Buruli Ulcer

Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk

Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.

Genome-wide association study on the FEV1/FVC ratio in never-smokers identifies HHIP and FAM13A.

Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants

Long-term Air Pollution Exposure, Genome-wide DNA Methylation and Lung Function in the LifeLines Cohort Study

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

OR7-002 – Pyrin 577 mutations in dominant autoinflammation.

Occupational exposure to pesticides is associated with differential DNA methylation.

Participation in interdisciplinary meetings on genetic diagnostics (NGS).

Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2

Rapid Targeted Genomics in Critically Ill Newborns.

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

Susceptibility to chronic mucus hypersecretion, a genome wide association study

The Well-Known Gene HHIP and Novel Gene MECR Are Implicated in Small Airway Obstruction

The emerging landscape of dynamic DNA methylation in early childhood

Understanding the role of the chromosome 15q25.1 in COPD through epigenetics and transcriptomics