Lista de obras -

768: Exome sequencing in hyperemesis gravidarum reveals association with stress-induced calcium channel (RYR2)

artículo científico publicado en 2016

A candidate gene study in low HDL-cholesterol families provides evidence for the involvement of the APOA2 gene and the APOA1C3A4 gene cluster

artículo científico publicado en 2002

A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context

artículo científico publicado en 2019

A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia.

artículo científico publicado en 2009

A novel nonsense apolipoprotein A-I mutation (apoA-I(E136X)) causes low HDL cholesterol in French Canadians

artículo científico publicado en 2006

A systems genetics approach implicates USF1, FADS3, and other causal candidate genes for familial combined hyperlipidemia

artículo científico publicado en 2009

A treasure trove for lipoprotein biology

artículo científico publicado en 2008

ASElux: An Ultra-Fast and Accurate Allelic Reads Counter

artículo científico publicado en 2017

Accurate estimation of cell composition in bulk expression through robust integration of single-cell information

scientific article published on 24 April 2020

Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences

scientific article published on 11 September 2020

Adipose Tissue Gene Expression Associations Reveal Hundreds of Candidate Genes for Cardiometabolic Traits

scientific article published on 26 September 2019

Adipose co-expression networks across Finns and Mexicans identify novel triglyceride-associated genes

artículo científico publicado en 2012

Amerindian-specific regions under positive selection harbour new lipid variants in Latinos

artículo científico publicado en 2014

An integrated, ontology-driven approach to constructing observational databases for research

artículo científico publicado en 2015

Association of ketone body levels with hyperglycemia and type 2 diabetes in 9,398 Finnish men.

scientific article published on 04 April 2013

Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia

artículo científico publicado en 2008

Association of the APOLIPOPROTEIN A1/C3/A4/A5 gene cluster with triglyceride levels and LDL particle size in familial combined hyperlipidemia

artículo científico publicado en 2004

Association testing in a linked region using large pedigrees

artículo científico publicado en 2005

Author Correction: Integration of human adipocyte chromosomal interactions with adipose gene expression prioritizes obesity-related genes from GWAS

artículo científico publicado en 2018

Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution

scientific article published on 01 December 2019

Combined analysis of genome scans of dutch and finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16q

artículo científico publicado en 2003

Common hepatic nuclear factor-4alpha variants are associated with high serum lipid levels and the metabolic syndrome

artículo científico publicado en 2006

Cross-species analyses implicate Lipin 1 involvement in human glucose metabolism

artículo científico publicado en 2005

Do DNA sequence variants in ABCA1 contribute to HDL cholesterol levels in the general population?

artículo científico publicado en 2004

Efficient Estimation and Applications of Cross-Validated Genetic Predictions to Polygenic Risk Scores and Linear Mixed Models

artículo científico publicado en 2020

Efficient estimation and applications of cross-validated genetic predictions

Enhancing droplet-based single-nucleus RNA-seq resolution using the semi-supervised machine learning classifier DIEM

artículo científico publicado en 2020

Estimating ethnic admixture from pedigree data.

artículo científico publicado en 2008

Evidence for a gene influencing high-density lipoprotein cholesterol on chromosome 4q31.21.

artículo científico publicado en 2005

Evidence of how rs7575840 influences apolipoprotein B-containing lipid particles

artículo científico publicado en 2011

Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family

artículo científico publicado en 2012

Factors associated with postprandial lipemia and apolipoprotein A-V levels in individuals with familial combined hyperlipidemia

artículo científico publicado en 2014

Familial combined hyperlipidemia in Mexicans: association with upstream transcription factor 1 and linkage on chromosome 16q24.1.

artículo científico publicado en 2005

Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1).

artículo científico publicado en 2004

Familial combined hyperlipidemia: upstream transcription factor 1 and beyond

artículo científico publicado en 2006

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.

artículo científico publicado en 2015

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society

artículo científico publicado en 2013

Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family

artículo científico publicado en 2017

Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects

artículo científico publicado en 2009

GENOMICS AND SYSTEMS BIOLOGY APPROACHES IN THE STUDY OF LIPID DISORDERS

artículo científico publicado en 2018

Galanin preproprotein is associated with elevated plasma triglycerides

artículo científico publicado en 2008

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits

artículo científico publicado en 2017

Genetic analysis of hyperemesis gravidarum reveals association with intracellular calcium release channel (RYR2).

artículo científico publicado en 2016

Genetic and environmental determinants of the susceptibility of Amerindian derived populations for having hypertriglyceridemia

artículo científico publicado en 2014

Genetic and environmental perturbations lead to regulatory decoherence

artículo científico publicado en 2019

Genetic causes of high and low serum HDL-cholesterol

artículo científico publicado en 2010

Genetic influences contributing to LDL particle size in familial combined hyperlipidaemia

artículo científico publicado en 2002

Genetic variation at the proprotein convertase subtilisin/kexin type 5 gene modulates high-density lipoprotein cholesterol levels

artículo científico publicado en 2009

Genetics of atherosclerosis

artículo científico publicado en 2004

Genome scans provide evidence for low-HDL-C loci on chromosomes 8q23, 16q24.1-24.2, and 20q13.11 in Finnish families

artículo científico publicado en 2002

Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci

artículo científico publicado en 2013

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

artículo científico publicado en 2014

Hyperglycemia and a common variant of GCKR are associated with the levels of eight amino acids in 9,369 Finnish men

artículo científico publicado en 2012

Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes

artículo científico publicado en 2021

Identification of two common variants contributing to serum apolipoprotein B levels in Mexicans

artículo científico publicado en 2009

Integration of human adipocyte chromosomal interactions with adipose gene expression prioritizes obesity-related genes from GWAS.

artículo científico publicado en 2018

Integrative approaches for large-scale transcriptome-wide association studies

artículo científico publicado en 2016

Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples

artículo científico publicado en 2010

Locus for elevated apolipoprotein B levels on chromosome 1p31 in families with familial combined hyperlipidemia

artículo científico publicado en 2002

Locus for quantitative HDL-cholesterol on chromosome 10q in Finnish families with dyslipidemia

artículo científico publicado en 2004

Merging microsatellite data: enhanced methodology and software to combine genotype data for linkage and association analysis

artículo científico publicado en 2008

Molecular Characterization of the Lipid Genome-Wide Association Study Signal on Chromosome 18q11.2 Implicates HNF4A-Mediated Regulation of the TMEM241 Gene

artículo científico publicado en 2016

Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia

scientific journal article

Novel Lipid Long Intervening Noncoding RNA, Oligodendrocyte Maturation-Associated Long Intergenic Noncoding RNA, Regulates the Liver Steatosis Gene Stearoyl-Coenzyme A Desaturase As an Enhancer RNA

scientific article published on 14 August 2019

Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits

article

Publisher Correction: Accurate estimation of cell composition in bulk expression through robust integration of single-cell information

scientific article published on 03 June 2020

Publisher Correction: RIPK1 gene variants associate with obesity in humans and can be therapeutically silenced to reduce obesity in mice

scientific article published on 08 October 2020

RIPK1 gene variants associate with obesity in humans and can be therapeutically silenced to reduce obesity in mice

artículo científico publicado en 2020

Regulation of alternative splicing in human obesity loci

artículo científico publicado en 2016

Remote Ischemic Conditioning Alters Methylation and Expression of Cell Cycle Genes in Aneurysmal Subarachnoid Hemorrhage.

artículo científico publicado en 2015

Reverse GWAS: Using genetics to identify and model phenotypic subtypes

article

Reverse gene-environment interaction approach to identify variants influencing body-mass index in humans

artículo científico publicado en 2019

Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies

artículo científico publicado en 2006

Serum aromatic and branched-chain amino acids associated with NASH demonstrate divergent associations with serum lipids

artículo científico publicado en 2020

The ATF6-Met[67]Val substitution is associated with increased plasma cholesterol levels

artículo científico publicado en 2009

The Contribution of GWAS Loci in Familial Dyslipidemias

artículo científico publicado en 2016

The Metabolic Syndrome in Men study: a resource for studies of metabolic and cardiovascular diseases

artículo científico publicado en 2017

The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans

artículo científico publicado en 2011

The SLC6A14 gene shows evidence of association with obesity

artículo científico publicado en 2003

The WWOX gene modulates high-density lipoprotein and lipid metabolism

artículo científico publicado en 2014

The causal effect of obesity on prediabetes and insulin resistance reveals the important role of adipose tissue in insulin resistance

artículo científico publicado en 2020

The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management

artículo científico publicado en 2013

Transgenic expression and genetic variation of Lmf1 affect LPL activity in mice and humans

artículo científico publicado en 2012

USF1 and dyslipidemias: converging evidence for a functional intronic variant

artículo científico publicado en 2005

USF1 contributes to high serum lipid levels in Dutch FCHL families and U.S. whites with coronary artery disease

artículo científico publicado en 2007

Unraveling the complex genetics of familial combined hyperlipidemia

artículo científico publicado en 2006

Upstream transcription factor 1 influences plasma lipid and metabolic traits in mice

artículo científico publicado en 2009

WW-domain-containing oxidoreductase is associated with low plasma HDL-C levels

artículo científico publicado en 2008

[Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society]

artículo científico publicado en 2015

Lista de obras de

768: Exome sequencing in hyperemesis gravidarum reveals association with stress-induced calcium channel (RYR2)

A candidate gene study in low HDL-cholesterol families provides evidence for the involvement of the APOA2 gene and the APOA1C3A4 gene cluster

A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context

A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia.

A novel nonsense apolipoprotein A-I mutation (apoA-I(E136X)) causes low HDL cholesterol in French Canadians

A systems genetics approach implicates USF1, FADS3, and other causal candidate genes for familial combined hyperlipidemia

A treasure trove for lipoprotein biology

ASElux: An Ultra-Fast and Accurate Allelic Reads Counter

Accurate estimation of cell composition in bulk expression through robust integration of single-cell information

Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences

Adipose Tissue Gene Expression Associations Reveal Hundreds of Candidate Genes for Cardiometabolic Traits

Adipose co-expression networks across Finns and Mexicans identify novel triglyceride-associated genes

Amerindian-specific regions under positive selection harbour new lipid variants in Latinos

An integrated, ontology-driven approach to constructing observational databases for research

Association of ketone body levels with hyperglycemia and type 2 diabetes in 9,398 Finnish men.

Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia

Association of the APOLIPOPROTEIN A1/C3/A4/A5 gene cluster with triglyceride levels and LDL particle size in familial combined hyperlipidemia

Association testing in a linked region using large pedigrees

Author Correction: Integration of human adipocyte chromosomal interactions with adipose gene expression prioritizes obesity-related genes from GWAS

Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution

Combined analysis of genome scans of dutch and finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16q

Common hepatic nuclear factor-4alpha variants are associated with high serum lipid levels and the metabolic syndrome

Cross-species analyses implicate Lipin 1 involvement in human glucose metabolism

Do DNA sequence variants in ABCA1 contribute to HDL cholesterol levels in the general population?

Efficient Estimation and Applications of Cross-Validated Genetic Predictions to Polygenic Risk Scores and Linear Mixed Models

Efficient estimation and applications of cross-validated genetic predictions

Enhancing droplet-based single-nucleus RNA-seq resolution using the semi-supervised machine learning classifier DIEM

Estimating ethnic admixture from pedigree data.

Evidence for a gene influencing high-density lipoprotein cholesterol on chromosome 4q31.21.

Evidence of how rs7575840 influences apolipoprotein B-containing lipid particles

Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family

Factors associated with postprandial lipemia and apolipoprotein A-V levels in individuals with familial combined hyperlipidemia

Familial combined hyperlipidemia in Mexicans: association with upstream transcription factor 1 and linkage on chromosome 16q24.1.

Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1).

Familial combined hyperlipidemia: upstream transcription factor 1 and beyond

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society

Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family

Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects

GENOMICS AND SYSTEMS BIOLOGY APPROACHES IN THE STUDY OF LIPID DISORDERS

Galanin preproprotein is associated with elevated plasma triglycerides

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits

Genetic analysis of hyperemesis gravidarum reveals association with intracellular calcium release channel (RYR2).

Genetic and environmental determinants of the susceptibility of Amerindian derived populations for having hypertriglyceridemia

Genetic and environmental perturbations lead to regulatory decoherence

Genetic causes of high and low serum HDL-cholesterol

Genetic influences contributing to LDL particle size in familial combined hyperlipidaemia

Genetic variation at the proprotein convertase subtilisin/kexin type 5 gene modulates high-density lipoprotein cholesterol levels

Genetics of atherosclerosis

Genome scans provide evidence for low-HDL-C loci on chromosomes 8q23, 16q24.1-24.2, and 20q13.11 in Finnish families

Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

Hyperglycemia and a common variant of GCKR are associated with the levels of eight amino acids in 9,369 Finnish men

Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes

Identification of two common variants contributing to serum apolipoprotein B levels in Mexicans

Integration of human adipocyte chromosomal interactions with adipose gene expression prioritizes obesity-related genes from GWAS.

Integrative approaches for large-scale transcriptome-wide association studies

Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples

Locus for elevated apolipoprotein B levels on chromosome 1p31 in families with familial combined hyperlipidemia

Locus for quantitative HDL-cholesterol on chromosome 10q in Finnish families with dyslipidemia

Merging microsatellite data: enhanced methodology and software to combine genotype data for linkage and association analysis

Molecular Characterization of the Lipid Genome-Wide Association Study Signal on Chromosome 18q11.2 Implicates HNF4A-Mediated Regulation of the TMEM241 Gene

Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia

Novel Lipid Long Intervening Noncoding RNA, Oligodendrocyte Maturation-Associated Long Intergenic Noncoding RNA, Regulates the Liver Steatosis Gene Stearoyl-Coenzyme A Desaturase As an Enhancer RNA

Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits

Publisher Correction: Accurate estimation of cell composition in bulk expression through robust integration of single-cell information

Publisher Correction: RIPK1 gene variants associate with obesity in humans and can be therapeutically silenced to reduce obesity in mice

RIPK1 gene variants associate with obesity in humans and can be therapeutically silenced to reduce obesity in mice

Regulation of alternative splicing in human obesity loci

Remote Ischemic Conditioning Alters Methylation and Expression of Cell Cycle Genes in Aneurysmal Subarachnoid Hemorrhage.

Reverse GWAS: Using genetics to identify and model phenotypic subtypes

Reverse gene-environment interaction approach to identify variants influencing body-mass index in humans

Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies

Serum aromatic and branched-chain amino acids associated with NASH demonstrate divergent associations with serum lipids

The ATF6-Met[67]Val substitution is associated with increased plasma cholesterol levels

The Contribution of GWAS Loci in Familial Dyslipidemias

The Metabolic Syndrome in Men study: a resource for studies of metabolic and cardiovascular diseases

The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans

The SLC6A14 gene shows evidence of association with obesity