Search filters

List of works by Kathleen Stirrups

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

scientific article published on 24 March 2017

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

scientific article

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

scientific article

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

scientific article published on 13 May 2012

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

scientific article published on 23 November 2016

Abnormal differentiation of B cells and megakaryocytes in Roifman syndrome.

scientific article published on 29 January 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

scientific article published on 27 July 2016

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

scientific article published on 2 March 2016

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

scientific article

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

scientific article published on 28 December 2016

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

scientific article

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

scientific article published on 25 April 2013

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

scientific article

Discovery and refinement of loci associated with lipid levels

scientific article

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

scientific article

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

scientific article published on 23 January 2018

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

scientific article published on 25 February 2016

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

scientific article published on 30 October 2017

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

scientific article

Genetic evidence of assortative mating in humans

article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 02 December 2012

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

scientific article

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

scientific article published on 18 June 2014

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in October 2017

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

scientific article

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.

scientific article published on 22 February 2018

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

scientific article published on 22 December 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

scientific article published on 16 March 2018

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

scientific article

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

scientific article published on 01 July 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

scientific article (publication date: February 2017)

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

scientific article published on 14 November 2016

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

scientific article published on 19 December 2017

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

scientific article

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

scientific article published on February 2017

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

scientific article

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

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

scientific article published on 12 September 2016

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

scientific article

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

scientific article published on 12 September 2016

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

scientific article published on 06 May 2020