List of works - Rasika A Mathias

A Simple Scalable Association Hypothesis Test Combining Gene-wide Evidence From Multiple Polymorphisms

scientific article published on March 2014

A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium

scientific journal article

A combined genome-wide linkage and association approach to find susceptibility loci for platelet function phenotypes in European American and African American families with coronary artery disease

scientific article

A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry.

scientific article

A common variant in the Von Willebrand factor gene is associated with multiple functional consequences.

scientific article

A graphical assessment of p-values from sliding window haplotype tests of association to identify asthma susceptibility loci on chromosome 11q.

scientific article published on 14 June 2006

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

scientific article

A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations

scientific article published on 10 November 2012

African ancestry is a risk factor for asthma and high total IgE levels in African admixed populations.

scientific article

An American Thoracic Society/National Heart, Lung, and Blood Institute workshop report: addressing respiratory health equality in the United States

journal article published in 2017

Application of the regression of offspring on mid-parent method to detect associations between single-nucleotide polymorphisms and the beta 2 electroencephalogram phenotype in the COGA data

scientific article

Aquaporin 5 polymorphisms and rate of lung function decline in chronic obstructive pulmonary disease

scientific article

Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits

article

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

scientific article

Comparison of SNP tagging methods using empirical data: association study of 713 SNPs on chromosome 12q14.3-12q24.21 for asthma and total serum IgE in an African Caribbean population

scientific article

Comparison of year-of-exam- and age-matched estimates of heritability in the Framingham Heart Study data

scientific article

Consistency of genetic analyses in longitudinal data: observations from the GAW13 Framingham Heart Study data

scientific article

Detectable clonal mosaicism from birth to old age and its relationship to cancer

scientific article

Diet-gene interactions and PUFA metabolism: a potential contributor to health disparities and human diseases

scientific article

Differences in arachidonic acid levels and fatty acid desaturase (FADS) gene variants in African Americans and European Americans with diabetes or the metabolic syndrome

scientific article published on 4 July 2011

Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015

Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking

scientific article

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

scientific article published on 24 August 2020

Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma

scientific article

Evaluation of random forests performance for genome-wide association studies in the presence of interaction effects

scientific article

Exome Chip Analysis Identifies Low-Frequency a on Brain Magnetic Imaging

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

scientific article

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis ⬇️

scientific article published on July 8, 2012

FADS genetic variants and omega-6 polyunsaturated fatty acid metabolism in a homogeneous island population

scientific article

Further replication studies of the EVE Consortium meta-analysis identifies 2 asthma risk loci in European Americans

scientific article published on 4 October 2012

Gene encoding Duffy antigen/receptor for chemokines is associated with asthma and IgE in three populations

scientific article

Genetic Variants in the FADS Gene: Implications for Dietary Recommendations for Fatty Acid Intake

scientific article

Genome-Wide Association Study Identification of Novel Loci Associated with Airway Responsiveness in Chronic Obstructive Pulmonary Disease

scientific article

Genome-wide ancestry association testing identifies a common European variant on 6q14.1 as a risk factor for asthma in African American subjects

scientific article

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets

scientific article published on 6 February 2017

Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene

scientific journal article

Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos

scientific article published on 6 December 2014

Genome-wide association study of lung function phenotypes in a founder population

scientific article

Genome-wide interaction studies reveal sex-specific asthma risk alleles

scientific article

Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD.

scientific article

Greater collagen-induced platelet aggregation following cyclooxygenase 1 inhibition predicts incident acute coronary syndromes

scientific article

Heritability of platelet responsiveness to aspirin in activation pathways directly and indirectly related to cyclooxygenase-1

scientific article (publication date: 15 May 2007)

Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing

scientific article

Identification of tag single-nucleotide polymorphisms in regions with varying linkage disequilibrium

scientific article published on 30 December 2005

Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry

scientific article

Identifying tagging SNPs for African specific genetic variation from the African Diaspora Genome

scientific article

Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers

scientific article

Independent metabolic syndrome variants predict new-onset coronary artery disease.

scientific article

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

scientific article published on 14 October 2020

Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis

scientific article

Integration of mouse and human genome-wide association data identifies KCNIP4 as an asthma gene

scientific article (publication date: 2013)

Investigation of altering single-nucleotide polymorphism density on the power to detect trait loci and frequency of false positive in nonparametric linkage analyses of qualitative traits

scientific article published on 30 December 2005

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

scientific article

Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases

scientific article

Large-scale genome-wide association studies and meta-analyses of longitudinal change in adult lung function ⬇️

scientific article

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

scientific article

Mendelian randomization evaluation of causal effects of fibrinogen on incident coronary heart disease

scientific article published on 10 May 2019

Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes

scientific article

Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations

scientific article

Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis.

scientific article published on 21 November 2016

On the analysis of genome-wide association studies in family-based designs: a universal, robust analysis approach and an application to four genome-wide association studies

scientific article

Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals

scientific article

Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF

scientific article

Resequencing candidate genes implicates rare variants in asthma susceptibility

scientific article published on February 2012

Sensitive detection of chromosomal segments of distinct ancestry in admixed populations

scientific article

Sequence variants of the gene encoding chemoattractant receptor expressed on Th2 cells (CRTH2) are associated with asthma and differentially influence mRNA stability

scientific article

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

scientific article published on 6 March 2019

The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions

scientific article (publication date: May 2010)

The impact of FADS genetic variants on ω6 polyunsaturated fatty acid metabolism in African Americans

scientific article

The robustness of generalized estimating equations for association tests in extended family data

scientific article

Uncovering the DNA methylation landscape in key regulatory regions within the FADS cluster

scientific article published on 28 September 2017

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

scientific article published on 23 December 2019

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

scientific article

Using genotype array data to compare multi- and single-sample variant calls and improve variant call sets from deep coverage whole-genome sequencing data

scientific article

Variants of DENND1B associated with asthma in children

scientific article

List of works by Rasika A Mathias

A Simple Scalable Association Hypothesis Test Combining Gene-wide Evidence From Multiple Polymorphisms

A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium

A combined genome-wide linkage and association approach to find susceptibility loci for platelet function phenotypes in European American and African American families with coronary artery disease

A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry.

A common variant in the Von Willebrand factor gene is associated with multiple functional consequences.

A graphical assessment of p-values from sliding window haplotype tests of association to identify asthma susceptibility loci on chromosome 11q.

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations

African ancestry is a risk factor for asthma and high total IgE levels in African admixed populations.

An American Thoracic Society/National Heart, Lung, and Blood Institute workshop report: addressing respiratory health equality in the United States

Application of the regression of offspring on mid-parent method to detect associations between single-nucleotide polymorphisms and the beta 2 electroencephalogram phenotype in the COGA data

Aquaporin 5 polymorphisms and rate of lung function decline in chronic obstructive pulmonary disease

Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Comparison of SNP tagging methods using empirical data: association study of 713 SNPs on chromosome 12q14.3-12q24.21 for asthma and total serum IgE in an African Caribbean population

Comparison of year-of-exam- and age-matched estimates of heritability in the Framingham Heart Study data

Consistency of genetic analyses in longitudinal data: observations from the GAW13 Framingham Heart Study data

Detectable clonal mosaicism from birth to old age and its relationship to cancer

Diet-gene interactions and PUFA metabolism: a potential contributor to health disparities and human diseases

Differences in arachidonic acid levels and fatty acid desaturase (FADS) gene variants in African Americans and European Americans with diabetes or the metabolic syndrome

Directional dominance on stature and cognition in diverse human populations

Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma

Evaluation of random forests performance for genome-wide association studies in the presence of interaction effects

Exome Chip Analysis Identifies Low-Frequency a on Brain Magnetic Imaging

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis ⬇️

FADS genetic variants and omega-6 polyunsaturated fatty acid metabolism in a homogeneous island population

Further replication studies of the EVE Consortium meta-analysis identifies 2 asthma risk loci in European Americans

Gene encoding Duffy antigen/receptor for chemokines is associated with asthma and IgE in three populations

Genetic Variants in the FADS Gene: Implications for Dietary Recommendations for Fatty Acid Intake

Genome-Wide Association Study Identification of Novel Loci Associated with Airway Responsiveness in Chronic Obstructive Pulmonary Disease

Genome-wide ancestry association testing identifies a common European variant on 6q14.1 as a risk factor for asthma in African American subjects

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets

Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene

Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos

Genome-wide association study of lung function phenotypes in a founder population

Genome-wide interaction studies reveal sex-specific asthma risk alleles

Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD.

Greater collagen-induced platelet aggregation following cyclooxygenase 1 inhibition predicts incident acute coronary syndromes

Heritability of platelet responsiveness to aspirin in activation pathways directly and indirectly related to cyclooxygenase-1

Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing

Identification of tag single-nucleotide polymorphisms in regions with varying linkage disequilibrium

Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry

Identifying tagging SNPs for African specific genetic variation from the African Diaspora Genome

Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers

Independent metabolic syndrome variants predict new-onset coronary artery disease.

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis

Integration of mouse and human genome-wide association data identifies KCNIP4 as an asthma gene

Investigation of altering single-nucleotide polymorphism density on the power to detect trait loci and frequency of false positive in nonparametric linkage analyses of qualitative traits

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

Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases

Large-scale genome-wide association studies and meta-analyses of longitudinal change in adult lung function ⬇️

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

Mendelian randomization evaluation of causal effects of fibrinogen on incident coronary heart disease

Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes

Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations

Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis.

On the analysis of genome-wide association studies in family-based designs: a universal, robust analysis approach and an application to four genome-wide association studies

Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals

Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF

Resequencing candidate genes implicates rare variants in asthma susceptibility

Sensitive detection of chromosomal segments of distinct ancestry in admixed populations

Sequence variants of the gene encoding chemoattractant receptor expressed on Th2 cells (CRTH2) are associated with asthma and differentially influence mRNA stability

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions

The impact of FADS genetic variants on ω6 polyunsaturated fatty acid metabolism in African Americans

The robustness of generalized estimating equations for association tests in extended family data

Uncovering the DNA methylation landscape in key regulatory regions within the FADS cluster

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

Using genotype array data to compare multi- and single-sample variant calls and improve variant call sets from deep coverage whole-genome sequencing data

Variants of DENND1B associated with asthma in children