List of works - Nathan O Stitziel

A clinical approach to inherited premature coronary artery disease

scientific article

ANGPTL3 Deficiency and Protection Against Coronary Artery Disease

scientific article published on 29 March 2017

APOE p.Leu167del mutation in familial hypercholesterolemia.

scientific article

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article

Association of exome sequences with plasma C-reactive protein levels in >9000 participants

scientific article

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks

scientific article

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis

scientific article published on 20 September 2013

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

scientific article published on 2 March 2016

Common and Rare Genetic Variation in CCR2, CCR5, or CX3CR1 and Risk of Atherosclerotic Coronary Heart Disease and Glucometabolic Traits

scientific article published on 24 March 2016

Computational and statistical approaches to analyzing variants identified by exome sequencing

scientific article

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation

scientific article published on 11 October 2012

Distribution and medical impact of loss-of-function variants in the Finnish founder population

scientific article

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

scientific article published on 26 September 2013

Exome sequencing and the genetic basis of complex traits

scientific article published on 29 May 2012

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

scientific article

Exome sequencing in suspected monogenic dyslipidemias

scientific article

Exome-wide association study of plasma lipids in >300,000 individuals

scientific article published on 30 October 2017

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

scientific article

Genetic invalidation of Lp-PLA2 as a therapeutic target: Large-scale study of five functional Lp-PLA2-lowering alleles

scientific article

Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials

scientific article

Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci

scientific article published on 28 March 2022

Identification of Medically Actionable Secondary Findings in the 1000 Genomes

scientific article published on 2 September 2015

Inactivating mutations in NPC1L1 and protection from coronary heart disease

scientific article

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

scientific article published on 18 June 2014

Membrane-associated and secreted genes in breast cancer

scientific article

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci

scientific article published on 12 September 2016

Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis.

scientific article published on 21 November 2016

Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling

scientific article published on 5 October 2017

Prognostic value of diastolic filling parameters derived using a novel image processing technique in patients ≥70 years of age with congestive heart failure

scientific article published on 01 July 1999

Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease

scientific journal article

Structural location of disease-associated single-nucleotide polymorphisms

scientific article published in April 2003

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease ⬇️

scientific article published on February 2017

List of works by Nathan O Stitziel

A clinical approach to inherited premature coronary artery disease

ANGPTL3 Deficiency and Protection Against Coronary Artery Disease

APOE p.Leu167del mutation in familial hypercholesterolemia.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Association of exome sequences with plasma C-reactive protein levels in >9000 participants

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

Common and Rare Genetic Variation in CCR2, CCR5, or CX3CR1 and Risk of Atherosclerotic Coronary Heart Disease and Glucometabolic Traits

Computational and statistical approaches to analyzing variants identified by exome sequencing

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation

Distribution and medical impact of loss-of-function variants in the Finnish founder population

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

Exome sequencing and the genetic basis of complex traits

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

Exome sequencing in suspected monogenic dyslipidemias

Exome-wide association study of plasma lipids in >300,000 individuals

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

Genetic invalidation of Lp-PLA2 as a therapeutic target: Large-scale study of five functional Lp-PLA2-lowering alleles

Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials

Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci

Identification of Medically Actionable Secondary Findings in the 1000 Genomes

Inactivating mutations in NPC1L1 and protection from coronary heart disease

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

Membrane-associated and secreted genes in breast cancer

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci

Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis.

Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling

Prognostic value of diastolic filling parameters derived using a novel image processing technique in patients ≥70 years of age with congestive heart failure

Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease

Structural location of disease-associated single-nucleotide polymorphisms

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease ⬇️