Lista de obras -

A Missense Variant in PLEC Increases Risk of Atrial Fibrillation

artículo científico publicado en 2017

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

scientific article published on 16 April 2019

A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease

artículo científico publicado en 2015

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

artículo científico publicado en 2018

A rare missense variant in associates with lower cholesterol levels

article published in 2018

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

artículo científico publicado en 2011

A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke

artículo científico publicado en 2009

A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

scientific article published on 17 May 2018

Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism

artículo científico publicado en 2012

Biological, clinical and population relevance of 95 loci for blood lipids

artículo científico publicado en 2010

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

artículo científico publicado en 2016

Common variants associated with plasma triglycerides and risk for coronary artery disease

artículo científico publicado en 2013

Discovery and refinement of loci associated with lipid levels

artículo científico publicado en 2013

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

artículo científico publicado en 2020

Epigenetic and genetic components of height regulation

artículo científico publicado en 2016

Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

artículo científico publicado en 2019

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

artículo científico publicado en 2014

Genetic variants associated with platelet count are predictive of human disease and physiological markers

artículo científico publicado en 2021

Genome-wide analysis yields new loci associating with aortic valve stenosis

artículo científico publicado en 2018

Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

scientific article published on 09 January 2020

Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria

artículo científico publicado en 2019

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

Genome-wide association meta-analysis yields 20 loci associated with gallstone disease

artículo científico publicado en 2018

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

artículo científico publicado en 2009

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

scientific journal article

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

artículo científico publicado en 2011

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

artículo científico publicado en 2011

Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene

artículo científico publicado en 2010

Identification of a large set of rare complete human knockouts

artículo científico publicado en 2015

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

artículo científico publicado en 2013

Identification of low-frequency variants associated with gout and serum uric acid levels

artículo científico publicado en 2011

Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach

artículo científico publicado en 2014

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies

artículo científico publicado en 2010

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

artículo científico publicado en 2011

Large-scale association analysis identifies new risk loci for coronary artery disease

artículo científico publicado en 2012

Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits

artículo científico publicado en 2021

MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk

artículo científico publicado en 2020

Molecular benchmarks of a SARS-CoV-2 epidemic

artículo científico publicado en 2021

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

scientific article published on 21 May 2020

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

PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity

artículo científico publicado en 2018

Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

scientific article published on 23 April 2020

Predicting the probability of death using proteomics

artículo científico publicado en 2021

Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

scientific article published on 24 May 2019

RANTES/CCL5 and risk for coronary events: results from the MONICA/KORA Augsburg case-cohort, Athero-Express and CARDIoGRAM studies

artículo científico publicado en 2011

Sequence variant at 4q25 near PITX2 associates with appendicitis

artículo científico publicado en 2017

Sequence variants associating with urinary biomarkers

scientific article published on 01 April 2019

Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption

artículo científico publicado en 2011

Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density

artículo científico publicado en 2019

Seventy-five genetic loci influencing the human red blood cell

artículo científico publicado en 2012

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

artículo científico publicado en 2019

The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis

scientific article published in 2021

The power of genetic diversity in genome-wide association studies of lipids

The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis

artículo científico publicado en 2013

Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease

artículo científico publicado en 2016

Lista de obras de

A Missense Variant in PLEC Increases Risk of Atrial Fibrillation

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

A rare missense variant in associates with lower cholesterol levels

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke

A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism

Biological, clinical and population relevance of 95 loci for blood lipids

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

Common variants associated with plasma triglycerides and risk for coronary artery disease

Discovery and refinement of loci associated with lipid levels

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Epigenetic and genetic components of height regulation

Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Genetic variants associated with platelet count are predictive of human disease and physiological markers

Genome-wide analysis yields new loci associating with aortic valve stenosis

Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

Genome-wide association meta-analysis yields 20 loci associated with gallstone disease

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene

Identification of a large set of rare complete human knockouts

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

Identification of low-frequency variants associated with gout and serum uric acid levels

Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

Large-scale association analysis identifies new risk loci for coronary artery disease

Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits

MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk

Molecular benchmarks of a SARS-CoV-2 epidemic

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

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

PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity

Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

Predicting the probability of death using proteomics

Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

RANTES/CCL5 and risk for coronary events: results from the MONICA/KORA Augsburg case-cohort, Athero-Express and CARDIoGRAM studies

Sequence variant at 4q25 near PITX2 associates with appendicitis

Sequence variants associating with urinary biomarkers

Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption

Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density

Seventy-five genetic loci influencing the human red blood cell

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis

The power of genetic diversity in genome-wide association studies of lipids

The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis

Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease