Nicholas G. D. Masca
YOU?
Author Swipe
View article: Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals Open
View article: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals Open
View article: Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension Open
High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296…
View article: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals Open
Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to ~1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (mi…
View article: Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity Open
View article: Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity Open
View article: Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity Open
View article: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Open
View article: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity Open
View article: Large-Scale Analysis of Determinants, Stability, and Heritability of High-Density Lipoprotein Cholesterol Efflux Capacity
Large-Scale Analysis of Determinants, Stability, and Heritability of High-Density Lipoprotein Cholesterol Efflux Capacity Open
Objective— Cholesterol efflux capacity (CEC) has emerged as a biomarker of coronary artery disease risk beyond plasma high-density lipoprotein (HDL) cholesterol (HDL-C) level. However, the determinants of CEC are incompletely characterized…
View article: Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease
Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease Open
View article: Rare and low-frequency coding variants alter human adult height
Rare and low-frequency coding variants alter human adult height Open
View article: Rare and low-frequency coding variants alter human adult height
Rare and low-frequency coding variants alter human adult height Open
Height is a highly heritable, classic polygenic trait with ~700 common associated variants identified so far through genome-wide association studies. Here, we report 83 new height-associated coding variants with lower minor allele frequenc…
View article: Rare and low-frequency coding variants alter human adult height
Rare and low-frequency coding variants alter human adult height Open
Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele…
View article: Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension Open
View article: Analysis with the exome array identifies multiple new independent variants in lipid loci
Analysis with the exome array identifies multiple new independent variants in lipid loci Open
It has been hypothesized that low frequency (1-5% minor allele frequency (MAF)) and rare (<1% MAF) variants with large effect sizes may contribute to the missing heritability in complex traits. Here, we report an association analysis of li…
View article: Analysis with the exome array identifies multiple new independent variants in lipid loci
Analysis with the exome array identifies multiple new independent variants in lipid loci Open
It has been hypothesized that low frequency (1-5% minor allele frequency (MAF)) and rare (<1% MAF) variants with large effect sizes may contribute to the missing heritability in complex traits. Here, we report an association analysis of li…
View article: Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. Open
View article: Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease Open
BACKGROUND The discovery of low-frequency coding variants affecting the risk of coronary artery disease has facilitated the identification of therapeutic targets. METHODS Through DNA genotyping, we tested 54,003 coding-sequence variants co…
View article: Three-dimensional dominant frequency mapping using autoregressive spectral analysis of atrial electrograms of patients in persistent atrial fibrillation
Three-dimensional dominant frequency mapping using autoregressive spectral analysis of atrial electrograms of patients in persistent atrial fibrillation Open
View article: Coding Variation in <i>ANGPTL4,</i> <i>LPL,</i> and <i>SVEP1</i> and the Risk of Coronary Disease
Coding Variation in <i>ANGPTL4,</i> <i>LPL,</i> and <i>SVEP1</i> and the Risk of Coronary Disease Open
We found that carriers of loss-of-function mutations in ANGPTL4 had triglyceride levels that were lower than those among noncarriers; these mutations were also associated with protection from coronary artery disease. (Funded by the Nationa…
View article: RIPOSTE: a framework for improving the design and analysis of laboratory-based research
RIPOSTE: a framework for improving the design and analysis of laboratory-based research Open
Lack of reproducibility is an ongoing problem in some areas of the biomedical sciences. Poor experimental design and a failure to engage with experienced statisticians at key stages in the design and analysis of experiments are two factors…