Search filters

List of works by Michael Boehnke

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 Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure

scientific article

A Loss-Of-Function Splice Acceptor Variant in IGF2 is Protective for Type 2 Diabetes

scientific article

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 Variance-Component Framework for Pedigree Analysis of Continuous and Categorical Outcomes

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 comparison study of multivariate fixed models and Gene Association with Multiple Traits (GAMuT) for next-generation sequencing

scientific article published on 5 December 2016

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 genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants

scientific article (publication date: June 2007)

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 large sample of finnish diabetic sib-pairs reveals no evidence for a non-insulin-dependent diabetes mellitus susceptibility locus at 2qter ⬇️

scientific article published on August 15, 1998

A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10

scientific article

A multipoint method for detecting genotyping errors and mutations in sibling-pair linkage data

scientific article

A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans

scientific article published on 28 January 2016

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

scientific article published on 23 November 2016

A radiation hybrid map of the distal short arm of human chromosome 11, containing the Beckwith-Wiedemann and associated embryonal tumor disease loci

scientific article

A radiation hybrid map of the region on human chromosome 22 containing the neurofibromatosis type 2 locus

scientific article published on November 1992

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene

scientific article

A tobit variance-component method for linkage analysis of censored trait data

scientific article

Absence of Linkage of Chromosome 21q21 Markers to Familial Alzheimer's Disease ⬇️

scientific article published on September 16, 1988

Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences

scientific article published on 11 September 2020

Age-related clonal hematopoiesis associated with adverse outcomes

scientific article

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

scientific article published on 31 May 2017

An algorithm to construct genetically similar subsets of families with the use of self-reported ethnicity information

scientific article

Analysis of protein-coding genetic variation in 60,706 humans

scientific article (publication date: 17 August 2016)

Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr) ⬇️

scientific article published on April 1, 1991

Ascertainment-adjusted parameter estimates revisited

scientific article published on 05 March 2002

Assessing whether an allele can account in part for a linkage signal: the Genotype-IBD Sharing Test (GIST).

scientific article

Association Analysis and Meta-Analysis of Multi-Allelic Variants for Large-Scale Sequence Data

scientific article published on 25 May 2020

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

scientific article (publication date: November 2010)

Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men.

scientific article published on 05 June 2009

Association of Transcription Factor 7-Like 2 (TCF7L2) Variants With Type 2 Diabetes in a Finnish Sample

article

Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population

scientific article published on June 2014

Association of an apolipoprotein CII allele with familial dementia of the Alzheimer type

scientific article

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

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

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

scientific article published in Nature Communications

Autosomal Dominant Nanophthalmos (NNO1) with High Hyperopia and Angle-Closure Glaucoma Maps to Chromosome 11 ⬇️

scientific article published on November 1, 1998

Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation

scientific article published on 31 July 2013

BRCA1 maps proximal to D17S579 on chromosome 17q21 by genetic analysis.

scientific article

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology

scientific article published on 30 July 2018

Biological interpretation of genome-wide association studies using predicted gene functions

scientific article published on 19 January 2015

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

scientific article

Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q.

scientific article

Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy

scientific article

Commingling and segregation analyses: comparison of results from a simulation study of a quantitative trait

scientific article published on January 1990

Common Variants in Maturity-Onset Diabetes of the Young Genes Contribute to Risk of Type 2 Diabetes in Finns

article

Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion

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 variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals

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 sequential and fixed-structure sampling of pedigrees in complex segregation analysis of a quantitative trait ⬇️

scientific article published on September 1, 1988

Complement genes contribute sex-biased vulnerability in diverse disorders

scientific article published on 11 May 2020

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

scientific article published on 04 August 2008

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies

scientific article

Congenital cataracts: de novo gene conversion event in CRYBB2.

scientific article

Correcting for Sample Contamination in Genotype Calling of DNA Sequence Data

scientific article

Correcting for single ascertainment by truncation for a quantitative trait.

scientific article

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

Cosegregation of Open-angle Glaucoma and the Nail-Patella Syndrome ⬇️

scientific article published on October 1, 1997

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

Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data

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

Distribution and medical impact of loss-of-function variants in the Finnish founder population

scientific article

Efficient study designs for test of genetic association using sibship data and unrelated cases and controls

scientific article

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: Corrigendum: Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies

article

Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

scientific article

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

Estimating hepatic glucokinase activity using a simple model of lactate kinetics

scientific article published on 28 March 2012

Estimating the power of a proposed linkage study for a complex genetic trait.

scientific article

Evaluating the Calibration and Power of Three Gene-Based Association Tests of Rare Variants for the X Chromosome

scientific article

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

Examination of genetic linkage of chromosome 15 to schizophrenia in a large Veterans Affairs Cooperative Study sample

scientific article published in December 2001

Exome Sequencing of Familial Bipolar Disorder

scientific article

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

scientific article

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

scientific article published on 30 October 2017

Experimental design and error detection for polyploid radiation hybrid mapping

scientific article published in September 1995

Exploring and visualizing large-scale genetic associations by using PheWeb

scientific article published on 01 June 2020

Extensions to pedigree analysis. V. Optimal calculation of Mendelian likelihoods

scientific article published on January 1983

Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

scientific article published in Nature Communications

Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

FTEC: a coalescent simulator for modeling faster than exponential growth ⬇️

scientific article published on March 21, 2012

FTO genotype is associated with phenotypic variability of body mass index

scientific article published on 16 September 2012

Familiality of quantitative metabolic traits in Finnish families with non-insulin-dependent diabetes mellitus. Finland-United States Investigation of NIDDM Genetics (FUSION) Study investigators

scientific article published in June 1999

Family risk index as a measure of familial heterogeneity of cancer risk. A population-based study in metropolitan Detroit ⬇️

scientific article published on September 1, 1988

Family with dominantly inherited ataxia, amyotrophy, and peripheral sensory loss. Spinopontine atrophy or Machado-Joseph Azorean disease in another non-Portuguese family?

scientific article

Finding the missing heritability of complex diseases

scientific article

Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype

scientific article

Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability

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

Fine-structure genetic mapping of human chromosomes using the polymerase chain reaction on single sperm: experimental design considerations

scientific article

GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

scientific article published on 07 August 2020

Gene Level Meta-Analysis of Quantitative Traits by Functional Linear Models

scientific article

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

scientific article

General framework for meta-analysis of rare variants in sequencing association studies

scientific article published on 13 June 2013

Genetic Association Mapping Based on Discordant Sib Pairs: The Discordant-Alleles Test ⬇️

scientific article published on April 1, 1998

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits

scientific article

Genetic analysis of eight breast-ovarian cancer families with suspected BRCA1 mutations

scientific article published on January 1995

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scientific article published on 17 September 2018

Genetic analysis of over one million people identifies 535 novel loci for blood pressure

Genetic evidence of assortative mating in humans

article

Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes

scientific article published on 18 November 2009

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

scientific article

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

scientific article published on 13 June 2018

Genetic linkage of Beckwith-Wiedemann syndrome to 11p15.

scientific article

Genetic regulatory signatures underlying islet gene expression and type 2 diabetes

scientific article published on 13 February 2017

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

scientific article

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 scan of schizophrenia families in a large Veterans Affairs Cooperative Study sample: evidence for linkage to 18p11.32 and for racial heterogeneity on chromosomes 6 and 14.

scientific article published in November 2005

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 Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development

scientific article published on 27 December 2017

Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention ⬇️

scientific article published on 7 September 2022

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

Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry

scientific journal article

Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes

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 of metabolites in Finnish men identify disease-relevant loci

scientific article published on 28 March 2022

Genome-wide association study identifies eight loci associated with blood pressure

scientific article (publication date: June 2009)

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

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 meta-analysis of common variant differences between men and women

scientific article published on 27 July 2012

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

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Genotype-based matching to correct for population stratification in large-scale case-control genetic association studies

scientific article published on September 2009

Global Epigenomic Analysis of Primary Human Pancreatic Islets Provides Insights into Type 2 Diabetes Susceptibility Loci

Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci

scientific article

Haplotype association analysis for late onset diseases using nuclear family data

scientific article

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

scientific article

How many polymorphic genes will it take to span the human genome?

scientific article

Human longevity and common variations in the LMNA gene: a meta-analysis

scientific article

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

scientific article

Hyperglycemia and a common variant of GCKR are associated with the levels of eight amino acids in 9,369 Finnish men

scientific article

IL6 gene promoter polymorphisms and type 2 diabetes: joint analysis of individual participants' data from 21 studies

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 heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

scientific article published on 14 April 2013

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

Identifying marker typing incompatibilities in linkage analysis

scientific article published in October 1996

Identifying pedigrees segregating at a major locus for a quantitative trait: an efficient strategy for linkage analysis

scientific article

Identifying plausible genetic models based on association and linkage results: application to type 2 diabetes

scientific article published on 3 August 2012

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

scientific article

Importance of different types of prior knowledge in selecting genome-wide findings for follow-up

scientific article published on February 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

Increasing the power and efficiency of disease-marker case-control association studies through use of allele-sharing information

scientific article

Influence of genetic variants on gene expression in human pancreatic islets – implications for type 2 diabetes

article

Integrating comprehensive functional annotations to boost power and accuracy in gene-based association analysis

scientific article published on 15 December 2020

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

scientific article

Interactions between genetic variation and cellular environment in skeletal muscle gene expression

article

Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies

scientific article published on 14 March 2012

Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies

scientific article (publication date: February 2006)

Joint analysis of individual participants' data from 17 studies on the association of the IL6 variant -174G>C with circulating glucose levels, interleukin-6 levels, and body mass index

scientific article

Joint modeling of linkage and association: identifying SNPs responsible for a linkage signal

scientific article

Juvenile glaucoma linked to GLCIA in a Panamanian family.

scientific article

Juvenile glaucoma linked to the GLC1A gene on chromosome 1q in a Panamanian family.

scientific article

LASER server: ancestry tracing with genotypes or sequence reads

scientific article

Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

scientific article

Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci.

scientific article

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

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci

scientific article

Linkage Study of Best‘s Vitelliform Macular Dystrophy (VMD2) in a Large North American Family

Linkage analysis of peripheral neurofibromatosis to DNA markers on chromosome 8.

scientific article

Linkage disequilibrium between microsatellite markers extends beyond 1 cM on chromosome 20 in Finns

scientific article

Linkage of chromosome 13q32 to schizophrenia in a large veterans affairs cooperative study sample

scientific article published in August 2002

Linkage relationship of X-linked juvenile retinoschisis with Xp22.1-p22.3 probes

scientific article

Localization of the homolog of a mouse craniofacial mutant to human chromosome 18q11 and evaluation of linkage to human CLP and CPO.

scientific article published on June 1996

Localization of the human homolog of the yeast cell division control 27 gene (CDC27) proximal to ITGB3 on human chromosome 17q21.3

scientific article

Lod score curves for phase-unknown matings

scientific article published in January 1996

Lod scores for gene mapping in the presence of marker map uncertainty.

scientific article published in July 2001

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

scientific article

Low-coverage sequencing: implications for design of complex trait association studies

scientific article published on April 2011

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

scientific article

Mapping Genes for NIDDM: Design of the Finland—United States Investigation of NIDDM Genetics (FUSION) Study ⬇️

scientific article published on June 1, 1998

Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq

scientific article published in January 1994

Mendelian randomization studies do not support a causal role for reduced circulating adiponectin levels in insulin resistance and type 2 diabetes

scientific article

Meta-Analysis of Genome-wide Linkage Studies in BMI and Obesity*

article

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 23 type 2 diabetes linkage studies from the International Type 2 Diabetes Linkage Analysis Consortium

scientific article

Meta-analysis of Complex Diseases at Gene Level with Generalized Functional Linear Models

scientific article published on 29 December 2015

Meta-analysis of gene-environment interaction exploiting gene-environment independence across multiple case-control studies

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 quantitative pleiotropic traits for next-generation sequencing with multivariate functional linear models

scientific article published on 21 December 2016

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

scientific article

Meta‐analysis of genetic association studies and adjustment for multiple testing of correlated SNPs and traits ⬇️

scientific article published on November 1, 2010

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

scientific article

Modest evidence for linkage and possible confirmation of association between NOTCH4 and schizophrenia in a large Veterans Affairs Cooperative Study sample

scientific article published in April 2003

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

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

scientific article

Multipoint radiation hybrid mapping: comparison of methods, sample size requirements, and optimal study characteristics

scientific article published on May 1994

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells

scientific article

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 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

Next-generation genotype imputation service and methods

scientific article published on 29 August 2016

No interactions between previously associated 2-hour glucose gene variants and physical activity or BMI on 2-hour glucose levels

scientific article published on 13 March 2012

No large-effect low-frequency coding variation found for myocardial infarction

scientific article

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

scientific article

Novel association of TM6SF2 rs58542926 genotype with increased serum tyrosine levels and decreased apoB-100 particles in Finns

scientific article published on 24 May 2017

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

Omics-squared: human genomic, transcriptomic and phenotypic data for genetic analysis workshop 19.

scientific article

Optimal designs for two-stage genome-wide association studies

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

article

Partitioning the variability of fasting plasma glucose levels in pedigrees. Genetic and environmental factors

scientific article published in April 1987

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

scientific article

Pleiotropy analysis of quantitative traits at gene level by multivariate functional linear models

scientific article

Point and interval estimates of marker location in radiation hybrid mapping

scientific article

Power loss due to testing association between covariate-adjusted traits and genetic variants

scientific article published on 08 June 2020

Probability of detection of genotyping errors and mutations as inheritance inconsistencies in nuclear-family data

scientific article

Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma

scientific article published on July 1996

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: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scholarly article published in Nature Genetics

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

erratum

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

Quantifying and correcting for the winner's curse in genetic association studies

scientific article published on July 2009

Quantifying and correcting for the winner's curse in quantitative-trait association studies ⬇️

scientific article published on January 31, 2011

Quantifying prion disease penetrance using large population control cohorts

scientific article published on January 2016

Quantitative trait linkage analysis using Gaussian copulas

scientific article

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Rare-variant association analysis: study designs and statistical tests

scientific article

Rare-variant association testing for sequencing data with the sequence kernel association test

scientific article

Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci

scientific article published on 30 January 2014

Recent advances in understanding the genetic architecture of type 2 diabetes

scientific article

Recombination fraction estimate of zero in the presence of apparent recombinants: effects of incomplete penetrance and sporadic cases.

scientific article published in January 1995

Recommended joint and meta-analysis strategies for case-control association testing of single low-count variants

scientific article

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome ⬇️

scientific article (publication date: 15 May 2003)

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

Replicating genotype-phenotype associations

scientific article (publication date: 7 June 2007)

SNP prioritization using a Bayesian probability of association

scientific article published on 26 December 2012

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

Selected locus and multiple panel models for radiation hybrid mapping.

scientific article published in September 1996

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

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

scientific article

So many correlated tests, so little time! Rapid adjustment of P values for multiple correlated tests

scientific article published on December 2007

Some combinatorial problems of DNA restriction fragment length polymorphisms ⬇️

scientific article published on March 1, 1983

Statistical methods for multipoint radiation hybrid mapping ⬇️

scientific article published on December 1, 1991

Statistical methods for polyploid radiation hybrid mapping

scientific article published in September 1995

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

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity

scientific article

Subsets of Finns with high HDL to total cholesterol ratio show evidence for linkage to type 2 diabetes on chromosome 6q.

scientific article

Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk

scientific article

Tag SNP selection for Finnish individuals based on the CEPH Utah HapMap database

Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution

scientific article

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 W64R variant of the beta3-adrenergic receptor is not associated with type II diabetes or obesity in a large Finnish sample

scientific article published in February 1999

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 haplotype runs test: the parent-parent-affected offspring trio design

scientific article published on September 2004

The impact of accelerating faster than exponential population growth on genetic variation

scientific article published on 30 December 2013

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

scientific article

The peroxisome proliferator-activated receptor-gamma2 Pro12A1a variant: association with type 2 diabetes and trait differences

scientific article published in April 2001

The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease

scientific article published on 23 April 2015

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)

The role of environmental heterogeneity in meta-analysis of gene-environment interactions with quantitative traits

scientific article

Tissue-specific alternative splicing of TCF7L2.

scientific article published on 14 July 2009

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

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 association study of blood pressure determinants in over 750,000 individuals

scientific article published on 21 December 2018

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

Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia

scientific journal article

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

scientific article

Two models for a maternal factor in the inheritance of Huntington disease ⬇️

scientific article published on September 1, 1983

Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs

scientific article published on March 1999

Underlying genetic models of inheritance in established type 2 diabetes associations

scientific article published on 14 July 2009

Univariate and bivariate analyses of cholesterol and triglyceride levels in pedigrees

scientific article published in March 1986

Using sex-averaged genetic maps in multipoint linkage analysis when identity-by-descent status is incompletely known

scientific article published in July 2006

Variants in MTNR1B influence fasting glucose levels

scientific article

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

scientific article

Variation in the resistin gene is associated with obesity and insulin-related phenotypes in Finnish subjects

scientific article

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

scientific article

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

scientific article published on 23 May 2017

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

scientific article

X-linked recessive atrophic macular degeneration from RPGR mutation

scientific article published in August 2002

Paulina is supported by:

About Paulina

Help