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List of works by Karen L Mohlke

A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression

scientific article published in April 2018

A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants

scientific article published on 10 May 2017

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 Partial Loss-of-Function Variant in AKT2 Is Associated With Reduced Insulin-Mediated Glucose Uptake in Multiple Insulin-Sensitive Tissues: A Genotype-Based Callback Positron Emission Tomography Study

scientific article published on 15 November 2017

A Type 2 Diabetes-Associated Functional Regulatory Variant in a Pancreatic Islet Enhancer at the ADCY5 Locus

scientific article

A catalog of genetic loci associated with kidney function from analyses of a million individuals

scientific article published on 31 May 2019

A common functional regulatory variant at a type 2 diabetes locus upregulates ARAP1 expression in the pancreatic beta cell

scientific article published on 16 January 2014

A comprehensive SNP and indel imputability database ⬇️

scientific article published on January 3, 2013

A computational system to select candidate genes for complex human traits

scientific article published on 19 January 2007

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 genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012

A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease

scientific article published on June 2016

A map of open chromatin in human pancreatic islets

scientific article

A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.

scientific article published on 08 October 2013

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

scientific article published on 23 November 2016

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences

scientific article published on 11 September 2020

Allele-Specific Transcriptional Activity at Type 2 Diabetes–Associated Single Nucleotide Polymorphisms in Regions of Pancreatic Islet Open Chromatin at the JAZF1 Locus ⬇️

scientific article published on January 17, 2013

Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK

scientific article

Alterations to chromatin in intestinal macrophages link IL-10 deficiency to inappropriate inflammatory responses

scientific article published on 9 May 2016

An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans

scientific article published on 31 May 2017

Assessing exposure effects on gene expression

scientific article published on 08 June 2020

Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels

scientific article

Association of Birth Weight With Type 2 Diabetes and Glycemic Traits: A Mendelian Randomization Study

scientific article published on 04 September 2019

Association of FTO with obesity-related traits in the Cebu Longitudinal Health and Nutrition Survey (CLHNS) Cohort

scientific article published on 21 April 2008

Association of ketone body levels with hyperglycemia and type 2 diabetes in 9,398 Finnish men.

scientific article published on 04 April 2013

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

scientific article published on 14 January 2019

Association studies with imputed variants using expectation-maximization likelihood-ratio tests

scientific article

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Associations of genetic variants in/near body mass index-associated genes with type 2 diabetes: a systematic meta-analysis

scientific article published on 13 March 2014

Author Correction: Integration of human adipocyte chromosomal interactions with adipose gene expression prioritizes obesity-related genes from GWAS

scientific article published in Nature Communications

Biological, clinical and population relevance of 95 loci for blood lipids

scientific article

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

scientific article

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

scientific article

Common variants at 30 loci contribute to polygenic dyslipidemia

scientific article

Common variants in the GDF5-UQCC region are associated with variation in human height

scientific article

Common variants near MC4R are associated with fat mass, weight and risk of obesity

scientific article

Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study

scientific article published on 30 October 2017

Comparison of ENCODE region SNPs between Cebu Filipino and Asian HapMap samples

scientific article published on 18 July 2007

Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes

scientific article published on 04 August 2008

Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution.

scientific article published on 27 July 2009

Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

scientific article published on 23 August 2017

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

Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scholarly article published in Nature Genetics

Deciphering the Emerging Complexities of Molecular Mechanisms at GWAS Loci

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

scientific article

Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans

scientific article

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015

Discovery and refinement of loci associated with lipid levels

scientific article

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

scientific article published on 23 November 2020

Epigenome-wide association in adipose tissue from the METSIM cohort

scientific article published on 16 March 2018

Epigenome-wide association in adipose tissue from the METSIM cohort.

scientific article published in July 2018

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article published in November 2011

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article published in May 2010

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

scientific article published on 23 January 2018

Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

scientific article

Evaluation of SLC2A10 (GLUT10) as a candidate gene for type 2 diabetes and related traits in Finns

scientific article published in August 2005

Evaluation of the metabochip genotyping array in African Americans and implications for fine mapping of GWAS-identified loci: the PAGE study

scientific article

Evidence for Association between SH2B1 Gene Variants and Glycated Hemoglobin in Nondiabetic European American Young Adults: The Add Health Study

scientific article published on September 2016

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

scientific article

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

scientific article published on 30 October 2017

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

article by Jason Flannick et al published 22 May 2019 in Nature

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

FTO genetic variants, dietary intake and body mass index: insights from 177,330 individuals.

scientific article

FTO genotype is associated with phenotypic variability of body mass index

scientific article published on 16 September 2012

FUT2 Variants Confer Susceptibility to Familial Otitis Media

Finding genes and variants for lipid levels after genome-wide association analysis

scientific article published on April 2012

Fine-mapping and initial characterization of QT interval loci in African Americans

scientific article

Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

scientific article published on 08 October 2018

Functional genomics and assays of regulatory activity detect mechanisms at loci for lipid traits and coronary artery disease

scientific article

GREGOR: evaluating global enrichment of trait-associated variants in epigenomic features using a systematic, data-driven approach

scientific article

Gene × physical activity interactions in obesity: combined analysis of 111,421 individuals of European ancestry

scientific article

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits

scientific article

Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels

scientific article published on 10 September 2013

Genetic evidence of assortative mating in humans

scholarly article

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

scientific article

Genetic regulatory signatures underlying islet gene expression and type 2 diabetes

scientific article published on 13 February 2017

Genetic risk scores in the prediction of plasma glucose, impaired insulin secretion, insulin resistance and incident type 2 diabetes in the METSIM study

scientific article published in June 2017

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

scientific article

Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D

scientific article published on 30 September 2020

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

scientific article published on 6 October 2011

Genetic variants influencing circulating lipid levels and risk of coronary artery disease

scientific article published on 23 September 2010

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

scientific journal article

Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes

scientific article published in April 2004

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

scientific article published in November 2018

Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci

scientific article published on 14 July 2016

Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans

scientific article

Genome-wide Association with C-Reactive Protein Levels in CLHNS: Evidence for the CRP and HNF1A Loci and their Interaction with Exposure to a Pathogenic Environment ⬇️

scientific article published on April 1, 2012

Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders

Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians

scientific article

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

scientific article published in June 2009

Genome-wide association studies in East Asians identify new loci for waist-hip ratio and waist circumference

scientific article published on 20 January 2016

Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci

scientific article published on 28 March 2022

Genome-wide association study for adiponectin levels in Filipino women identifies CDH13 and a novel uncommon haplotype at KNG1–ADIPOQ ⬇️

scientific article published on September 27, 2010

Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults

scientific article

Genome-wide associations for birth weight and correlations with adult disease

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 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

scientific article

Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

scientific article published on 27 April 2017

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

scientific article

Genome‐Wide Association Study of Anthropometric Traits and Evidence of Interactions With Age and Study Year in Filipino Women ⬇️

scientific article published on October 21, 2010

HUGIn: Hi-C Unifying Genomic Interrogator

scientific article

High-throughput screening for evidence of association by using mass spectrometry genotyping on DNA pools

scientific article

Human and rat skeletal muscle single-nuclei multi-omic integrative analyses nominate causal cell types, regulatory elements, and SNPs for complex traits

scientific article published in 2021

Hundreds of variants clustered in genomic loci and biological pathways affect human height

scientific article

INK4/ARF transcript expression is associated with chromosome 9p21 variants linked to atherosclerosis

scientific article

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

scientific article

Identification of a regulatory variant that binds FOXA1 and FOXA2 at the CDC123/CAMK1D type 2 diabetes GWAS locus

scientific article

Identification of seven novel loci associated with amino acid levels using single-variant and gene-based tests in 8545 Finnish men from the METSIM study

scientific article published on 21 February 2018

Identification of ten loci associated with height highlights new biological pathways in human growth

scientific article

Identification of type 2 diabetes loci in 433,540 East Asian individuals

scientific article published on 06 May 2020

Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity

scientific article

Integration of human adipocyte chromosomal interactions with adipose gene expression prioritizes obesity-related genes from GWAS.

scientific article

Interaction of smoking and obesity susceptibility loci on adolescent BMI: The National Longitudinal Study of Adolescent to Adult Health

scientific article published on 4 November 2015

Interethnic analyses of blood pressure loci in populations of East Asian and European descent

scientific article published in Nature Communications

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

scientific article

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

scientific article

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

scientific article

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

scientific article

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

scientific article published on 01 May 2019

Mendelian randomization analysis does not support causal associations of birth weight with hypertension risk and blood pressure in adulthood

scientific article published on 07 May 2020

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

scientific article

Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians

scientific article

Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index

scientific article

Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci

scientific article

Meta-analysis of the INSIG2 association with obesity including 74,345 individuals: does heterogeneity of estimates relate to study design?

scientific article published on 23 October 2009

Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants

scientific article

Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns

scientific article

Molecular Characterization of the Lipid Genome-Wide Association Study Signal on Chromosome 18q11.2 Implicates HNF4A-Mediated Regulation of the TMEM241 Gene

scientific article published on 19 May 2016

Multi-Ancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

article

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity

scientific article published in Nature Communications

Multi-ethnic fine-mapping of 14 central adiposity loci

scientific article

Multiple Hepatic Regulatory Variants at the GALNT2 GWAS Locus Associated with High-Density Lipoprotein Cholesterol

scientific article

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

scientific article published in October 2017

New alcohol-related genes suggest shared genetic mechanisms with neuropsychiatric disorders

scientific article published on 29 July 2019

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article

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

scientific article

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

scientific article published on 2 December 2012

New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk ⬇️

scientific article published on February 2016

Newly identified loci that influence lipid concentrations and risk of coronary artery disease

scientific article

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

scientific article published on 18 June 2018

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

scientific article

Obesity genes: so close and yet so far...

scientific article

Open Chromatin Profiling in Adipose Tissue Marks Genomic Regions with Functional Roles in Cardiometabolic Traits

scientific article published on 08 August 2019

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

article

Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children

scientific article

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

scientific article (publication date: 11 August 2012)

Population-specific coding variant underlies genome-wide association with adiponectin level ⬇️

scientific article published on October 18, 2011

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

Quantifying prion disease penetrance using large population control cohorts

scientific article published on January 2016

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Recent advances in understanding the genetic architecture of type 2 diabetes

scientific article

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

Removing reference mapping biases using limited or no genotype data identifies allelic differences in protein binding at disease-associated loci

scientific article

SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

scientific article published on 5 December 2016

Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes

scientific article published in January 2007

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

Single-nucleotide polymorphisms at five loci are associated with C-reactive protein levels in a cohort of Filipino young adults ⬇️

scientific article published on September 22, 2011

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

scientific article

Spontaneous Irs1 passenger mutation linked to a gene-targeted SerpinB2 allele ⬇️

scientific article published on September 13, 2010

Strategies to fine-map genetic associations with lipid levels by combining epigenomic annotations and liver-specific transcription profiles

scientific article

Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases

scientific article

Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits

scientific article published in 2022

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

scientific article published on 02 October 2019

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 Metabolic Syndrome in Men study: a resource for studies of metabolic and cardiovascular diseases

scientific article published on 24 January 2017

The causal effect of obesity on prediabetes and insulin resistance reveals the important role of adipose tissue in insulin resistance

scientific article published on 14 September 2020

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

The genetic regulatory signature of type 2 diabetes in human skeletal muscle

scientific article published on 29 June 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 power of genetic diversity in genome-wide association studies of lipids

The role of HNF4A variants in the risk of type 2 diabetes

scientific article (publication date: April 2005)

Trans-ancestry Fine Mapping and Molecular Assays Identify Regulatory Variants at the ANGPTL8 HDL-C GWAS Locus

scientific article

Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

scientific article

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 lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained

scientific article

Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms

scientific article published on 23 February 2016

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scientific article

Variant Near FGF5 Has Stronger Effects on Blood Pressure in Chinese With a Higher Body Mass Index

scientific article

Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight

scientific article

Variants in MTNR1B influence fasting glucose levels

scientific article

Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels

scientific article

What Will Diabetes Genomes Tell Us? ⬇️

scientific article published on December 1, 2012

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