List of works - Heather M. Highland

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 trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity

scientific article published on 01 October 2019

Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics

scientific article published on 14 March 2020

BMI loci and longitudinal BMI from adolescence to young adulthood in an ethnically diverse cohort

scientific article

Complex patterns of direct and indirect association between the transcription Factor-7 like 2 gene, body mass index and type 2 diabetes diagnosis in adulthood in the Hispanic Community Health Study/Study of Latinos

scientific article published on 02 October 2018

Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism

scientific article published on 22 June 2015

Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals

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 Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

scientific article

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

scientific article published on 06 June 2019

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

scientific article published on 01 September 2019

Fine mapping of QT interval regions in global populations refines previously identified QT interval loci and identifies signals unique to African and Hispanic descent populations

scientific article

Five linkage regions each harbor multiple type 2 diabetes genes in the African American subset of the GENNID Study

scientific article published on 04 April 2013

Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample

scientific article published on 01 April 2019

GWAS of QRS duration identifies new loci specific to Hispanic/Latino populations

scientific article published on 28 June 2019

GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals

scientific article published on 6 December 2017

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

Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium

scientific article

Genetic analyses of diverse populations improves discovery for complex traits

scientific article published on 19 June 2019

Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study

scientific article published on 24 May 2019

Genome-wide association study and meta-analysis identify loci associated with ventricular and supraventricular ectopy.

scientific article published on 4 April 2018

Genome-wide association study identifying novel variant for fasting insulin and allelic heterogeneity in known glycemic loci in Chilean adolescents: The Santiago Longitudinal Study

scientific article published on 30 December 2020

Habitual sleep duration is associated with BMI and macronutrient intake and may be modified by CLOCK genetic variants

scientific article

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

scientific article

Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program

scientific article published on 26 September 2019

Importance of Genetic Studies of Cardiometabolic Disease in Diverse Populations

scientific article published on 04 June 2020

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

scientific article

Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder

scientific article published on 21 October 2013

Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study

scientific article published on 30 March 2020

Multi-ethnic GWAS and fine-mapping of glycaemic traits identify novel loci in the PAGE Study

scientific article published in 2021

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

scientific article published on 30 June 2020

Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.

scientific article published on 05 August 2013

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

article

Pharmacogenomics study of thiazide diuretics and QT interval in multi-ethnic populations: the cohorts for heart and aging research in genomic epidemiology

scientific article

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

scientific article

Predicted gene expression in ancestrally diverse populations leads to discovery of susceptibility loci for lifestyle and cardiometabolic traits

scientific article published in 2022

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

Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

article

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

scientific article published on 9 April 2018

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

scientific article published on 19 December 2017

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

The interaction between physical activity and obesity gene variants in association with BMI: Does the obesogenic environment matter?

scientific article published on 20 October 2016

The power of genetic diversity in genome-wide association studies of lipids

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

scientific article published on 12 September 2016

Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci

scientific article published on 8 April 2017

List of works by Heather M. Highland

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

A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity

Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics

BMI loci and longitudinal BMI from adolescence to young adulthood in an ethnically diverse cohort

Complex patterns of direct and indirect association between the transcription Factor-7 like 2 gene, body mass index and type 2 diabetes diagnosis in adulthood in the Hispanic Community Health Study/Study of Latinos

Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism

Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals

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

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

Fine mapping of QT interval regions in global populations refines previously identified QT interval loci and identifies signals unique to African and Hispanic descent populations

Five linkage regions each harbor multiple type 2 diabetes genes in the African American subset of the GENNID Study

Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample

GWAS of QRS duration identifies new loci specific to Hispanic/Latino populations

GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals

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

Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium

Genetic analyses of diverse populations improves discovery for complex traits

Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study

Genome-wide association study and meta-analysis identify loci associated with ventricular and supraventricular ectopy.

Genome-wide association study identifying novel variant for fasting insulin and allelic heterogeneity in known glycemic loci in Chilean adolescents: The Santiago Longitudinal Study

Habitual sleep duration is associated with BMI and macronutrient intake and may be modified by CLOCK genetic variants

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program

Importance of Genetic Studies of Cardiometabolic Disease in Diverse Populations

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

Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder

Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study

Multi-ethnic GWAS and fine-mapping of glycaemic traits identify novel loci in the PAGE Study

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

Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.

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

Pharmacogenomics study of thiazide diuretics and QT interval in multi-ethnic populations: the cohorts for heart and aging research in genomic epidemiology

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

Predicted gene expression in ancestrally diverse populations leads to discovery of susceptibility loci for lifestyle and cardiometabolic traits

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

Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes

Rare and low-frequency coding variants alter human adult height

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

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

The genetic architecture of type 2 diabetes

The interaction between physical activity and obesity gene variants in association with BMI: Does the obesogenic environment matter?

The power of genetic diversity in genome-wide association studies of lipids

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

Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci