Lista de obras - Kathleen Stirrups - Dominio Público Uruguay

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

artículo científico publicado en 2017

A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease

artículo científico publicado en 2015

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

artículo científico publicado en 2016

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

artículo científico publicado en 2012

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

artículo científico publicado en 2016

Abnormal differentiation of B cells and megakaryocytes in Roifman syndrome.

artículo científico publicado en 2018

Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts tropism and fusogenicity

Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.

scientific article published on 19 July 2016

Analysis with the exome array identifies multiple new independent variants in lipid loci

artículo científico publicado en 2016

Author Correction: Para-infectious brain injury in COVID-19 persists at follow-up despite attenuated cytokine and autoantibody responses

artículo científico publicado en 2024

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

artículo científico publicado en 2016

Common variants associated with plasma triglycerides and risk for coronary artery disease

artículo científico publicado en 2013

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

artículo científico publicado en 2016

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

artículo científico publicado en 2016

Correction: The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits.

artículo científico publicado en 2013

Defining the role of common variation in the genomic and biological architecture of adult human height

artículo científico publicado en 2014

Discovery and refinement of loci associated with lipid levels

artículo científico publicado en 2013

Discovery of novel heart rate-associated loci using the Exome Chip

artículo científico publicado en 2017

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

artículo científico publicado en 2018

Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Gene × dietary pattern interactions in obesity: analysis of up to 68 317 adults of European ancestry

artículo científico publicado en 2015

Genetic evidence of assortative mating in humans

scholarly article

Genetic studies of body mass index yield new insights for obesity biology

artículo científico publicado en 2015

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article

Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake

artículo científico publicado en 2013

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

artículo científico publicado en 2014

Germline selection shapes human mitochondrial DNA diversity

scientific article published on 23 May 2019

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

artículo científico publicado en 2012

Large-scale association analysis identifies new risk loci for coronary artery disease

artículo científico publicado en 2012

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci ⬇️

artículo científico publicado en 2016

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

artículo científico publicado en 2012

Meta-analysis investigating associations between healthy diet and fasting glucose and insulin levels and modification by loci associated with glucose homeostasis in data from 15 cohorts

artículo científico publicado en 2012

New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals

artículo científico publicado en 2017

New genetic loci link adipose and insulin biology to body fat distribution

artículo científico publicado en 2015

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

article

Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency. ⬇️

artículo científico publicado en 2018

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2017

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

article

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2019

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

scientific article published on 17 July 2020

Rare and low-frequency coding variants alter human adult height

artículo científico publicado en 2017

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

artículo científico publicado en 2016

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

artículo científico publicado en 2017

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

artículo científico publicado en 2013

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

artículo científico publicado en 2017

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

artículo científico publicado en 2015

The genetic architecture of type 2 diabetes

artículo científico publicado en 2016

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

artículo científico publicado en 2016

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits

artículo científico publicado en 2012

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

artículo científico publicado en 2016

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

artículo científico publicado en 2020

Lista de obras de Kathleen Stirrups

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

Abnormal differentiation of B cells and megakaryocytes in Roifman syndrome.

Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts tropism and fusogenicity

Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.

Analysis with the exome array identifies multiple new independent variants in lipid loci

Author Correction: Para-infectious brain injury in COVID-19 persists at follow-up despite attenuated cytokine and autoantibody responses

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

Common variants associated with plasma triglycerides and risk for coronary artery disease

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Correction: The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits.

Defining the role of common variation in the genomic and biological architecture of adult human height

Discovery and refinement of loci associated with lipid levels

Discovery of novel heart rate-associated loci using the Exome Chip

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.

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

Gene × dietary pattern interactions in obesity: analysis of up to 68 317 adults of European ancestry

Genetic evidence of assortative mating in humans

Genetic studies of body mass index yield new insights for obesity biology

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

Germline selection shapes human mitochondrial DNA diversity

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

Large-scale association analysis identifies new risk loci for coronary artery disease

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

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

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

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci ⬇️

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

Meta-analysis investigating associations between healthy diet and fasting glucose and insulin levels and modification by loci associated with glucose homeostasis in data from 15 cohorts

New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals

New genetic loci link adipose and insulin biology to body fat distribution

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency. ⬇️

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

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

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Rare and low-frequency coding variants alter human adult height

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

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

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

The genetic architecture of type 2 diabetes

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

Whole-genome sequencing of a sporadic primary immunodeficiency cohort