Lista de obras - Eimear E Kenny - Dominio Público Uruguay

A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids.

artículo científico publicado en 2019

A brief history of human disease genetics

artículo científico publicado en 2020

A common variant in PNPLA3 is associated with age at diagnosis of NAFLD in patients from a multi-ethnic biobank

scientific article published on 05 March 2020

A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome

scientific article published on 11 October 2016

A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci

scientific journal article

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

artículo científico publicado en 2021

A multi-stage genome-wide association study of uterine fibroids in African Americans

artículo científico publicado en 2017

A positively selected FBN1 missense variant reduces height in Peruvian individuals

scientific article published on 13 May 2020

Anticodon sequence mutants of Escherichia coli initiator tRNA: effects of overproduction of aminoacyl-tRNA synthetases, methionyl-tRNA formyltransferase, and initiation factor 2 on activity in initiation

artículo científico publicado en 2003

Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans

artículo científico publicado en 2017

Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry

artículo científico publicado en 2019

Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations

artículo científico publicado en 2019

Author Correction: Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations

scientific article published on 04 September 2019

COVID-19 outcomes and the human genome

scientific article published on 12 May 2020

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

artículo científico publicado en 2021

Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13

artículo científico publicado en 2008

Correction to: Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits

scientific article published on 05 November 2019

DASH: a method for identical-by-descent haplotype mapping uncovers association with recent variation

artículo científico publicado en 2011

Disease Heritability Inferred from Familial Relationships Reported in Medical Records

Effect of Genetic African Ancestry on eGFR and Kidney Disease

artículo científico publicado en 2014

Erratum to: A multi-stage genome-wide association study of uterine fibroids in African Americans

artículo científico publicado en 2017

Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank

scientific article published on 31 December 2019

GBStools: A Statistical Method for Estimating Allelic Dropout in Reduced Representation Sequencing Data

artículo científico publicado en 2016

Genetic Diversity Turns a New PAGE in Our Understanding of Complex Traits

Genetic analyses of diverse populations improves discovery for complex traits

scientific article published on 19 June 2019

Genetic architecture of lipid traits in the Hispanic community health study/study of Latinos

artículo científico publicado en 2017

Genetic diversity in populations across Latin America: implications for population and medical genetic studies

Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.

artículo científico publicado en 2017

Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae

artículo científico publicado en 2009

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations

scientific article published on 13 October 2018

Genome-wide association study of schizophrenia in Ashkenazi Jews.

artículo científico publicado en 2015

Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes

artículo científico publicado en 2014

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations

artículo científico publicado en 2017

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations

scientific article published on 01 October 2020

Human demographic history impacts genetic risk prediction across diverse populations

Human genetics. The genetics of Mexico recapitulates Native American substructure and affects biomedical traits.

artículo científico publicado en 2014

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

artículo científico publicado en 2017

ImmunoChip study implicates antigen presentation to T cells in narcolepsy

artículo científico publicado en 2013

Imputation-Aware Tag SNP Selection To Improve Power for Large-Scale, Multi-ethnic Association Studies

scholarly article by Genevieve L Wojcik published in October 2018

Imputation-based assessment of next generation rare exome variant arrays

artículo científico publicado en 2014

Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population

artículo científico publicado en 2010

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

artículo científico publicado en 2020

Institutional profile: translational pharmacogenomics at the Icahn School of Medicine at Mount Sinai

artículo científico publicado en 2017

Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits

scientific article published on 25 July 2019

Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes

artículo científico

Melanesian blond hair is caused by an amino acid change in TYRP1

artículo científico publicado en 2012

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

artículo científico publicado en 2015

Multi-ethnic Genome-wide Association Study of Decomposed Cardioelectric Phenotypes Illustrates Strategies to Identify and Characterize Evidence of Shared Genetic Effects for Complex Traits

artículo científico publicado en 2020

Multi-ethnic genome-wide association study of decomposed cardioelectric phenotypes illustrates strategies to identify and characterize evidence of shared genetic effects for complex traits

artículo científico publicado en 2019

Multiscale causal networks identify VGF as a key regulator of Alzheimer's disease

scientific article published on 07 August 2020

Personalized Medicine and the Power of Electronic Health Records

scientific article published on 01 March 2019

Population structure in Argentina.

artículo científico publicado en 2018

RFMix: a discriminative modeling approach for rapid and robust local-ancestry inference

artículo científico publicado en 2013

Rapid response to the alpha-1 adrenergic agent phenylephrine in the perioperative period is impacted by genomics and ancestry

scientific article published on 10 November 2020

Reconstructing Native American migrations from whole-genome and whole-exome data

artículo científico publicado en 2013

SUN-032 Exome Sequencing Reveals that Pathogenic RET Variants Occur at Higher Prevalence Than Previously Recognized: Data from a US Health System Biobank.

artículo científico publicado en 2019

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

artículo científico publicado en 2019

SnapShot: Human biomedical genomics

scientific article published on 01 September 2011

Strategies for Enriching Variant Coverage in Candidate Disease Loci on a Multiethnic Genotyping Array

artículo científico publicado en 2016

Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae

artículo científico publicado en 2009

Textpresso: an ontology-based information retrieval and extraction system for biological literature

artículo científico publicado en 2004

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations

artículo científico publicado en 2018

The Future of Genomic Studies Must Be Globally Representative: Perspectives from PAGE

artículo científico publicado en 2019

The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research

scientific article published on 16 May 2019

The Great Migration and African-American Genomic Diversity

artículo científico publicado en 2016

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

artículo científico publicado en 2021

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

artículo científico publicado en 2020

The role of country of birth, and genetic and self-identified ancestry, in obesity susceptibility among African and Hispanic Americans

scientific article published on 01 July 2019

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

artículo científico publicado en 2020

Worldwide Frequencies of APOL1 Renal Risk Variants.

artículo científico publicado en 2018

iGAS: A framework for using electronic intraoperative medical records for genomic discovery

artículo científico publicado en 2017

Lista de obras de Eimear E Kenny

A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids.

A brief history of human disease genetics

A common variant in PNPLA3 is associated with age at diagnosis of NAFLD in patients from a multi-ethnic biobank

A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome

A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci

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

A multi-stage genome-wide association study of uterine fibroids in African Americans

A positively selected FBN1 missense variant reduces height in Peruvian individuals

Anticodon sequence mutants of Escherichia coli initiator tRNA: effects of overproduction of aminoacyl-tRNA synthetases, methionyl-tRNA formyltransferase, and initiation factor 2 on activity in initiation

Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans

Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry

Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations

Author Correction: Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations

COVID-19 outcomes and the human genome

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

Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13

Correction to: Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits

DASH: a method for identical-by-descent haplotype mapping uncovers association with recent variation

Disease Heritability Inferred from Familial Relationships Reported in Medical Records

Effect of Genetic African Ancestry on eGFR and Kidney Disease

Erratum to: A multi-stage genome-wide association study of uterine fibroids in African Americans

Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank

GBStools: A Statistical Method for Estimating Allelic Dropout in Reduced Representation Sequencing Data

Genetic Diversity Turns a New PAGE in Our Understanding of Complex Traits

Genetic analyses of diverse populations improves discovery for complex traits

Genetic architecture of lipid traits in the Hispanic community health study/study of Latinos

Genetic diversity in populations across Latin America: implications for population and medical genetic studies

Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.

Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations

Genome-wide association study of schizophrenia in Ashkenazi Jews.

Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations

Human demographic history impacts genetic risk prediction across diverse populations

Human genetics. The genetics of Mexico recapitulates Native American substructure and affects biomedical traits.

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

ImmunoChip study implicates antigen presentation to T cells in narcolepsy

Imputation-Aware Tag SNP Selection To Improve Power for Large-Scale, Multi-ethnic Association Studies

Imputation-based assessment of next generation rare exome variant arrays

Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

Institutional profile: translational pharmacogenomics at the Icahn School of Medicine at Mount Sinai

Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits

Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes

Melanesian blond hair is caused by an amino acid change in TYRP1

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

Multi-ethnic Genome-wide Association Study of Decomposed Cardioelectric Phenotypes Illustrates Strategies to Identify and Characterize Evidence of Shared Genetic Effects for Complex Traits

Multi-ethnic genome-wide association study of decomposed cardioelectric phenotypes illustrates strategies to identify and characterize evidence of shared genetic effects for complex traits

Multiscale causal networks identify VGF as a key regulator of Alzheimer's disease

Personalized Medicine and the Power of Electronic Health Records

Population structure in Argentina.

RFMix: a discriminative modeling approach for rapid and robust local-ancestry inference

Rapid response to the alpha-1 adrenergic agent phenylephrine in the perioperative period is impacted by genomics and ancestry

Reconstructing Native American migrations from whole-genome and whole-exome data

SUN-032 Exome Sequencing Reveals that Pathogenic RET Variants Occur at Higher Prevalence Than Previously Recognized: Data from a US Health System Biobank.

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

SnapShot: Human biomedical genomics

Strategies for Enriching Variant Coverage in Candidate Disease Loci on a Multiethnic Genotyping Array

Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae

Textpresso: an ontology-based information retrieval and extraction system for biological literature

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations

The Future of Genomic Studies Must Be Globally Representative: Perspectives from PAGE

The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research

The Great Migration and African-American Genomic Diversity

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

The role of country of birth, and genetic and self-identified ancestry, in obesity susceptibility among African and Hispanic Americans

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

Worldwide Frequencies of APOL1 Renal Risk Variants.

iGAS: A framework for using electronic intraoperative medical records for genomic discovery