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Lista de obras de Michael Boehnke

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

A 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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado el 15 de agosto de 1998

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

artículo científico publicado en 2004

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

artículo científico publicado en 2000

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 1993

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

artículo científico publicado en 1992

A reference panel of 64,976 haplotypes for genotype imputation

artículo científico publicado en 2016

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

artículo científico publicado en 1989

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

artículo científico publicado en 2003

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

artículo científico publicado el 16 de septiembre de 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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2005

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

artículo científico publicado en 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) ⬇️

artículo científico publicado el 1 de abril de 1991

Ascertainment-adjusted parameter estimates revisited

artículo científico publicado en 2002

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

artículo científico publicado en 2004

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

artículo científico publicado en 2020

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 1987

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado el 1 de noviembre de 1998

Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation

artículo científico publicado en 2013

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

artículo científico publicado en 1993

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 1996

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

artículo científico publicado en 2003

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

Common variants at 30 loci contribute to polygenic dyslipidemia

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado el 1 de septiembre de 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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

Congenital cataracts: de novo gene conversion event in CRYBB2.

artículo científico publicado en 2014

Correcting for Sample Contamination in Genotype Calling of DNA Sequence Data

artículo científico publicado en 2015

Correcting for single ascertainment by truncation for a quantitative trait.

artículo científico publicado en 1988

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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 ⬇️

artículo científico publicado el 1 de octubre de 1997

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

Directional dominance on stature and cognition in diverse human populations

artículo científico publicado en 2015

Discovery and refinement of loci associated with lipid levels

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

Epigenome-wide association in adipose tissue from the METSIM cohort

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

Estimating hepatic glucokinase activity using a simple model of lactate kinetics

artículo científico publicado en 2012

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

artículo científico publicado en 1989

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2005

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

artículo científico publicado en 2001

Exome Sequencing of Familial Bipolar Disorder

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Experimental design and error detection for polyploid radiation hybrid mapping

artículo científico publicado en 1995

Exploring and visualizing large-scale genetic associations by using PheWeb

artículo científico publicado en 2020

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

artículo científico publicado en 1983

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

artículo científico publicado en 2018

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

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

artículo científico publicado el 21 de marzo de 2012

FTO genotype is associated with phenotypic variability of body mass index

artículo científico publicado en 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

artículo científico publicado en 1999

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

artículo científico publicado el 1 de septiembre de 1988

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

artículo científico publicado en 1990

Finding the missing heritability of complex diseases

artículo científico publicado en 2009

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

artículo científico publicado en 1998

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

artículo científico publicado en 2011

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

artículo científico publicado en 2018

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

artículo científico publicado en 1989

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

General Framework for Meta-analysis of Rare Variants in Sequencing Association Studies ⬇️

artículo científico publicado el 13 de junio de 2013

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

artículo científico publicado el 1 de abril de 1998

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits

artículo científico publicado en 2017

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

artículo científico publicado en 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

scholarly article

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Genetic linkage of Beckwith-Wiedemann syndrome to 11p15.

artículo científico publicado en 1989

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2020

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 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.

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2022

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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.

artículo científico publicado en 2017

Genome-wide meta-analysis of common variant differences between men and women

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2010

Haplotype association analysis for late onset diseases using nuclear family data

artículo científico publicado en 2006

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

artículo científico publicado en 2002

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

artículo científico publicado en 1982

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2008

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

artículo científico publicado en 2020

Identifying marker typing incompatibilities in linkage analysis

artículo científico publicado en 1996

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

artículo científico publicado en 1989

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2005

Juvenile glaucoma linked to GLCIA in a Panamanian family.

artículo científico publicado en 1996

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

artículo científico publicado en 1997

LASER server: ancestry tracing with genotypes or sequence reads

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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.

artículo científico publicado en 1987

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

artículo científico publicado en 2001

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

artículo científico publicado en 2002

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

artículo científico publicado en 1990

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

artículo científico publicado en 1996

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

artículo científico publicado en 1995

Lod score curves for phase-unknown matings

artículo científico publicado en 1996

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

artículo científico publicado en 2001

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado el 1 de junio de 1998

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

artículo científico publicado en 1994

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

Meta-analysis of 23 type 2 diabetes linkage studies from the International Type 2 Diabetes Linkage Analysis Consortium

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

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

artículo científico publicado el 1 de noviembre de 2010

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

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 1994

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

artículo científico publicado en 2005

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

Next-generation genotype imputation service and methods

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

Optimal designs for two-stage genome-wide association studies

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

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

artículo científico publicado en 1987

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Point and interval estimates of marker location in radiation hybrid mapping

artículo científico publicado en 1999

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

artículo científico publicado en 2020

Probability of Detection of Genotyping Errors and Mutations as Inheritance Inconsistencies in Nuclear-Family Data ⬇️

artículo científico publicado el 8 de enero de 2002

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

artículo científico publicado en 1996

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

artículo científico publicado en 2017

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

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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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2009

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

artículo científico publicado el 31 de enero de 2011

Quantifying prion disease penetrance using large population control cohorts

artículo científico publicado en 2016

Quantitative trait linkage analysis using Gaussian copulas

artículo científico publicado en 2006

Rare and low-frequency coding variants alter human adult height

artículo científico publicado en 2017

Rare-variant association analysis: study designs and statistical tests

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 1995

Recommended Joint and Meta‐Analysis Strategies for Case‐Control Association Testing of Single Low‐Count Variants ⬇️

artículo científico publicado el 20 de junio de 2013

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

artículo científico publicado el 25 de abril de 2003

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

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

artículo científico publicado en 2018

Replicating genotype-phenotype associations

artículo científico publicado en 2007

SNP prioritization using a Bayesian probability of association

artículo científico publicado en 2012

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

artículo científico publicado en 2007

Selected locus and multiple panel models for radiation hybrid mapping.

artículo científico publicado en 1996

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

Some combinatorial problems of DNA restriction fragment length polymorphisms ⬇️

artículo científico publicado el 1 de marzo de 1983

Statistical methods for multipoint radiation hybrid mapping ⬇️

artículo científico publicado el 1 de diciembre de 1991

Statistical methods for polyploid radiation hybrid mapping

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2006

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 1999

The genetic architecture of type 2 diabetes

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2004

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2001

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

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 2014

Tissue-specific alternative splicing of TCF7L2.

artículo científico publicado en 2009

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado el 1 de septiembre de 1983

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

artículo científico publicado en 1999

Underlying genetic models of inheritance in established type 2 diabetes associations

artículo científico publicado en 2009

Univariate and bivariate analyses of cholesterol and triglyceride levels in pedigrees

artículo científico publicado en 1986

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

artículo científico publicado en 2006

Variants in MTNR1B influence fasting glucose levels

artículo científico publicado en 2008

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

artículo científico publicado en 2019

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

artículo científico publicado en 2004

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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

X-linked recessive atrophic macular degeneration from RPGR mutation

artículo científico publicado en 2002

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