Sekar Kathiresan
YOU?
Author Swipe
View article: A Narrative Review of Neurodevelopmental, Psychiatric, and Behavioral Consequences of Preterm Birth
A Narrative Review of Neurodevelopmental, Psychiatric, and Behavioral Consequences of Preterm Birth Open
Preterm infants survive into adulthood. However, this survival often comes with increased health and social challenges during adolescence and adulthood, including medical disabilities, learning difficulties, and behavioral and psychologica…
View article: Clonal hematopoiesis associated with epigenetic aging and clinical outcomes
Clonal hematopoiesis associated with epigenetic aging and clinical outcomes Open
Clonal hematopoiesis of indeterminate potential (CHIP) is a common precursor state for blood cancers that most frequently occurs due to mutations in the DNA-methylation modifying enzymes DNMT3A or TET2. We used DNA-methylation array and wh…
View article: Mapping and characterization of structural variation in 17,795 human genomes
Mapping and characterization of structural variation in 17,795 human genomes Open
A key goal of whole-genome sequencing for studies of human genetics is to interrogate all forms of variation, including single-nucleotide variants, small insertion or deletion (indel) variants and structural variants. However, tools and re…
View article: Large-scale genome-wide association study of coronary artery disease in genetically diverse populations
Large-scale genome-wide association study of coronary artery disease in genetically diverse populations Open
We report a genome-wide association study (GWAS) of coronary artery disease (CAD) incorporating nearly a quarter of a million cases, in which existing studies are integrated with data from cohorts of white, Black and Hispanic individuals f…
View article: Go Science Drone Med Box – Medical Emergency Drone for Emergency Healthcare Management
Go Science Drone Med Box – Medical Emergency Drone for Emergency Healthcare Management Open
The Medical Emergency Drone Box stands as a transformative development in healthcare technology, designed to address a spectrum of emergency medical needs. This paper delineates the comprehensive capabilities of the device, which ranges fr…
View article: South Asian medical cohorts reveal strong founder effects and high rates of homozygosity
South Asian medical cohorts reveal strong founder effects and high rates of homozygosity Open
The benefits of large-scale genetic studies for healthcare of the populations studied are well documented, but these genetic studies have traditionally ignored people from some parts of the world, such as South Asia. Here we describe whole…
View article: An in vivo CRISPR base editing therapy to inactivate the ANGPTL3 gene: nomination of a development candidate for VERVE-201
An in vivo CRISPR base editing therapy to inactivate the ANGPTL3 gene: nomination of a development candidate for VERVE-201 Open
Background Lowering cumulative exposure to low-density lipoprotein cholesterol (LDL-C) is the primary treatment for patients with homozygous familial hypercholesterolemia (HoFH) and established atherosclerotic cardiovascular disease. Due t…
View article: Association of Habitual Alcohol Intake With Risk of Cardiovascular Disease
Association of Habitual Alcohol Intake With Risk of Cardiovascular Disease Open
In this cohort study, coincident, favorable lifestyle factors attenuated the observational benefits of modest alcohol intake. Genetic epidemiology suggested that alcohol consumption of all amounts was associated with increased cardiovascul…
View article: Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study Open
Progressive dilation of the infrarenal aortic diameter is a consequence of the ageing process and is considered the main determinant of abdominal aortic aneurysm (AAA). We aimed to investigate the genetic and clinical determinants of abdom…
View article: Clonal hematopoiesis associated with epigenetic aging and clinical outcomes
Clonal hematopoiesis associated with epigenetic aging and clinical outcomes Open
Clonal hematopoiesis of indeterminate potential (CHIP) is a common precursor state for blood cancers that most frequently occurs due to mutations in the DNA‐methylation modifying enzymes DNMT3A or TET2 . We used DNA‐methylation array and w…
View article: Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices Open
Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in large sample sizes. We now analyze genetic and blood lipid d…
View article: Chromosome Xq23 Is Associated with Lower Atherogenic Lipid Concentrations and Favorable Cardiometabolic Indices
Chromosome Xq23 Is Associated with Lower Atherogenic Lipid Concentrations and Favorable Cardiometabolic Indices Open
Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in large sample sizes. We now analyze genetic and blood lipid d…
View article: A large-scale multi-ethnic genome-wide association study of coronary artery disease
A large-scale multi-ethnic genome-wide association study of coronary artery disease Open
Coronary artery disease (CAD) is a leading cause of death, yet its genetic determinants are not fully elucidated. We report a multi-ethnic genome-wide association study of CAD involving nearly a quarter of a million cases, incorporating th…
View article: Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes Open
A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-21077-8.
View article: Common variants at 30 loci contribute to polygenic dyslipidemia
Common variants at 30 loci contribute to polygenic dyslipidemia Open
Blood low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol and triglyceride levels are risk factors for cardiovascular disease. To dissect the polygenic basis of these traits, we conducted genome-wide assoc…
View article: Association of Sickle Cell Trait With Chronic Kidney Disease and Albuminuria in African Americans
Association of Sickle Cell Trait With Chronic Kidney Disease and Albuminuria in African Americans Open
The association between sickle cell trait (SCT) and chronic kidney disease (CKD) is uncertain.
View article: Association of Novel Genetic Loci With Circulating Fibrinogen Levels: A Genome-Wide Association Study in 6 Population-Based Cohorts
Association of Novel Genetic Loci With Circulating Fibrinogen Levels: A Genome-Wide Association Study in 6 Population-Based Cohorts Open
Fibrinogen is both central to blood coagulation and an acute phase reactant. We aimed to identify common variants influencing circulation fibrinogen levels.
View article: Genome-Wide Association Study for Coronary Artery Calcification With Follow-Up in Myocardial Infarction
Genome-Wide Association Study for Coronary Artery Calcification With Follow-Up in Myocardial Infarction Open
Coronary artery calcification (CAC) detected by computed tomography is a non-invasive measure of coronary atherosclerosis, that underlies most cases of myocardial infarction (MI). We aimed to identify common genetic variants associated wit…
View article: Lp(a) (Lipoprotein[a]) Concentrations and Incident Atherosclerotic Cardiovascular Disease
Lp(a) (Lipoprotein[a]) Concentrations and Incident Atherosclerotic Cardiovascular Disease Open
Objective: Lp(a) (lipoprotein[a]) concentrations are associated with atherosclerotic cardiovascular disease (ASCVD), and new therapies that enable potent and specific reduction are in development. In the largest study conducted to date, we…
View article: South Asian Patient Population Genetics Reveal Strong Founder Effects and High Rates of Homozygosity – New Resources for Precision Medicine
South Asian Patient Population Genetics Reveal Strong Founder Effects and High Rates of Homozygosity – New Resources for Precision Medicine Open
Population-scale genetic studies can identify drug targets and allow disease risk to be predicted with resulting benefit for management of individual health risks and system-wide allocation of health care delivery resources. Although popul…
View article: Prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test
Prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test Open
Purpose To evaluate the diagnostic yield and clinical utility of clinical genome sequencing (cWGS) as a first genetic test for patients with suspected monogenic disorders. Methods We conducted a prospective randomized study with pediatric …