Michael Boehnke

Q: What Schools Are Affiliated With Michael Boehnke

Michael Boehnke is affiliated with the following schools: University of Michigan, University of California, Los Angeles, Johns Hopkins University, Calvin University, University of Cambridge

Michael Boehnke's AcademicInfluence.com Rankings

Michael Boehnke

Biology

#3422

World Rank

#5237

Historical Rank

#1388

USA Rank

Genetics

#356

World Rank

#418

Historical Rank

#155

USA Rank

biology Degrees

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Biology

Why Is Michael Boehnke Influential?

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According to Wikipedia, Michael Lee Boehnke is an American geneticist. He is the Richard G. Cornell Distinguished University Professor of Biostatistics at the University of Michigan School of Public Health, where he also directs the Center for Statistical Genetics. His research focuses on the genetic dissection of complex traits; in a career spanning 25 years, he has developed methods for analysis of human pedigrees, examined the history of breast cancer in genetically at risk individuals, and contributed important discoveries on the genetics of type 2 diabetes and related traits, such as obesity and blood lipid levels.

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Michael Boehnke's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Finding the missing heritability of complex diseases (2009) (7749)
Genetic studies of body mass index yield new insights for obesity biology (2015) (3549)
Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids (2010) (3485)
Age-related clonal hematopoiesis associated with adverse outcomes. (2014) (2967)
A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants (2007) (2840)
Discovery and Refinement of Loci Associated with Lipid Levels (2013) (2475)
LocusZoom: regional visualization of genome-wide association scan results (2010) (2373)
Next-generation genotype imputation service and methods (2016) (2190)
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (2010) (2087)
Rare-variant association testing for sequencing data with the sequence kernel association test. (2011) (2085)
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs (2013) (2011)
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index (2010) (2011)
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study (2012) (2002)
Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome (2003) (1969)
Hundreds of variants clustered in genomic loci and biological pathways affect human height (2010) (1961)
Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk (2011) (1928)
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes (2008) (1882)
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes (2012) (1839)
Defining the role of common variation in the genomic and biological architecture of adult human height (2014) (1805)
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis (2010) (1801)
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation (2009) (1735)
Newly identified loci that influence lipid concentrations and risk of coronary artery disease (2008) (1626)
Large-scale association analysis identifies new risk loci for coronary artery disease (2012) (1507)
Common variants at 30 loci contribute to polygenic dyslipidemia (2009) (1380)
Replicating genotype–phenotype associations (2007) (1367)
Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies (2006) (1302)
New genetic loci link adipose and insulin biology to body fat distribution (2014) (1227)
Genome-wide association study identifies eight loci associated with blood pressure (2009) (1225)
Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index (2010) (1179)
Genome-wide meta-analyses identify multiple loci associated with smoking behavior (2010) (1107)
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (1028)
Genome-wide association study identifies 30 Loci Associated with Bipolar Disorder (2017) (998)
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility (2014) (933)
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4 (2011) (929)
The genetic architecture of type 2 diabetes (2016) (927)
Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use (2018) (914)
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution (2010) (897)
Rare-variant association analysis: study designs and statistical tests. (2014) (808)
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program (2019) (785)
Common variants associated with plasma triglycerides and risk for coronary artery disease (2013) (767)
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways (2012) (758)
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance (2012) (756)
Variants in MTNR1B influence fasting glucose levels (2009) (742)
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries (2018) (735)
Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion (2009) (698)
Biological interpretation of genome-wide association studies using predicted gene functions (2015) (678)
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways (2015) (676)
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (659)
Programs for pedigree analysis: Mendel, Fisher, and dGene (1988) (648)
Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies (2012) (646)
Identification of ten loci associated with height highlights new biological pathways in human growth (2008) (626)
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture (2013) (568)
Genome-wide association studies in diverse populations (2010) (552)
An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans (2017) (547)
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study (2015) (532)
Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes (2017) (517)
Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution (2009) (516)
Rare and low-frequency coding variants alter human adult height (2016) (511)
Physical Activity Attenuates the Influence of FTO Variants on Obesity Risk: A Meta-Analysis of 218,166 Adults and 19,268 Children (2011) (508)
The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits (2012) (506)
Type 2 (467)
So many correlated tests, so little time! Rapid adjustment of P values for multiple correlated tests. (2007) (447)
Exome-wide association study of plasma lipids in >300,000 individuals (2017) (428)
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk (2017) (428)
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure (2011) (424)
Genetic Variants Influencing Circulating Lipid Levels and Risk of Coronary Artery Disease (2010) (417)
Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies (2008) (416)
Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data. (2012) (414)
FTO genotype is associated with phenotypic variability of body mass index (2012) (407)
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes (2014) (405)
Common variants in the GDF5-UQCC region are associated with variation in human height (2008) (400)
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology (2018) (398)
A structural variation reference for medical and population genetics (2020) (394)
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function (2016) (388)
Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits (2013) (365)
Quantifying prion disease penetrance using large population control cohorts (2016) (352)
Genetic fine-mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci (2015) (349)
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population (2014) (348)
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals (2016) (347)
Genetic linkage of Beckwith-Wiedemann syndrome to 11p15. (1989) (310)
Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis (2017) (308)
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry (2009) (304)
Genetic counseling for families with inherited susceptibility to breast and ovarian cancer. (1993) (303)
Identification of heart rate–associated loci and their effects on cardiac conduction and rhythm disorders (2013) (299)
Statistical methods for multipoint radiation hybrid mapping. (1991) (298)
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes (2017) (294)
Low-coverage sequencing: implications for design of complex trait association studies. (2011) (293)
Improved inference of relationship for pairs of individuals. (2000) (290)
Impact of Type 2 Diabetes Susceptibility Variants on Quantitative Glycemic Traits Reveals Mechanistic Heterogeneity (2014) (287)
Accurate inference of relationships in sib-pair linkage studies. (1997) (286)
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. (2012) (282)
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion (2012) (279)
Allele frequency estimation from data on relatives. (1991) (278)
Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes. (2004) (277)
Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysis (2018) (276)
Association of Transcription Factor 7-Like 2 (TCF7L2) Variants With Type 2 Diabetes in a Finnish Sample (2006) (264)
Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk (2014) (263)
Stratifying Type 2 Diabetes Cases by BMI Identifies Genetic Risk Variants in LAMA1 and Enrichment for Risk Variants in Lean Compared to Obese Cases (2012) (263)
Detailed Physiologic Characterization Reveals Diverse Mechanisms for Novel Genetic Loci Regulating Glucose and Insulin Metabolism in Humans (2010) (262)
Extensions to pedigree analysis. IV. Covariance components models for multivariate traits. (1983) (254)
A catalog of genetic loci associated with kidney function from analyses of a million individuals (2019) (252)
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals (2018) (249)
Absence of linkage of chromosome 21q21 markers to familial Alzheimer's disease. (1988) (247)
Estimating the power of a proposed linkage study for a complex genetic trait. (1989) (244)
New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk (2016) (242)
Hyperglycemia and a Common Variant of GCKR Are Associated With the Levels of Eight Amino Acids in 9,369 Finnish Men (2012) (240)
Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology (2021) (240)
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension (2016) (234)
Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. (1999) (228)
Genome-wide linkage analysis of families with obsessive-compulsive disorder ascertained through pediatric probands. (2002) (224)
Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. (2018) (221)
Affected‐sib‐pair interval mapping and exclusion for complex genetic traits: Sampling considerations (1996) (218)
Genetic association mapping based on discordant sib pairs: the discordant-alleles test. (1998) (217)
Large-scale association analyses identify host factors influencing human gut microbiome composition (2020) (206)
Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder (2015) (206)
Genetic evidence of assortative mating in humans (2017) (199)
Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes (2009) (199)
General framework for meta-analysis of rare variants in sequencing association studies. (2013) (198)
Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population. (2014) (197)
Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes (2011) (197)
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. (2014) (197)
Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci. (2010) (196)
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure underpinning obesity (2017) (193)
Identification of type 2 diabetes loci in 433,540 East Asian individuals (2019) (188)
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 (2009) (187)
Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study (2011) (185)
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility (2015) (185)
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. (2005) (183)
A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33–34 (1994) (182)
Fine Mapping of Five Loci Associated with Low-Density Lipoprotein Cholesterol Detects Variants That Double the Explained Heritability (2011) (179)
Quantifying and correcting for the winner's curse in genetic association studies (2009) (178)
Two-trait-locus linkage analysis: a powerful strategy for mapping complex genetic traits. (1993) (178)
Gene × Physical Activity Interactions in Obesity: Combined Analysis of 111,421 Individuals of European Ancestry (2013) (178)
Ordered subset analysis in genetic linkage mapping of complex traits (2004) (178)
Statistical methods for polyploid radiation hybrid mapping. (1995) (174)
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. (2008) (170)
Experimentally-derived haplotypes substantially increase the efficiency of linkage disequilibrium studies (2001) (165)
Transferability of Type 2 Diabetes Implicated Loci in Multi-Ethnic Cohorts from Southeast Asia (2011) (165)
A multipoint method for detecting genotyping errors and mutations in sibling-pair linkage data. (2000) (165)
Genetic regulatory signatures underlying islet gene expression and type 2 diabetes (2017) (160)
Meta‐Analysis of Genome‐wide Linkage Studies in BMI and Obesity (2007) (159)
Rare coding variants in ten genes confer substantial risk for schizophrenia (2022) (154)
Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults (2017) (153)
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls (2019) (153)
The Trans-Ancestral Genomic Architecture of Glycemic Traits (2020) (151)
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits (2017) (149)
Recommended Joint and Meta‐Analysis Strategies for Case‐Control Association Testing of Single Low‐Count Variants (2013) (147)
The peroxisome proliferator-activated receptor-gamma2 Pro12A1a variant: association with type 2 diabetes and trait differences. (2001) (147)
GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores. (2019) (144)
Probability of detection of genotyping errors and mutations as inheritance inconsistencies in nuclear-family data. (2002) (144)
Directional dominance on stature and cognition in diverse human populations (2015) (144)
How many polymorphic genes will it take to span the human genome? (1982) (138)
Optimal designs for two‐stage genome‐wide association studies (2007) (136)
Estimating the power of a proposed linkage study: a practical computer simulation approach. (1986) (136)
Screening of 134 Single Nucleotide Polymorphisms (SNPs) Previously Associated With Type 2 Diabetes Replicates Association With 12 SNPs in Nine Genes (2007) (132)
The power of genetic diversity in genome-wide association studies of lipids (2021) (129)
Genetic Risk Prediction — Are We There Yet? (2009) (129)
Recent advances in understanding the genetic architecture of type 2 diabetes. (2015) (128)
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (127)
The Power of Gene-Based Rare Variant Methods to Detect Disease-Associated Variation and Test Hypotheses About Complex Disease (2015) (127)
Joint modeling of linkage and association: identifying SNPs responsible for a linkage signal. (2005) (126)
Limits of resolution of genetic linkage studies: implications for the positional cloning of human disease genes. (1994) (125)
X-linked recessive atrophic macular degeneration from RPGR mutation. (2002) (122)
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney (2017) (121)
Leveraging Cross-Species Transcription Factor Binding Site Patterns: From Diabetes Risk Loci to Disease Mechanisms (2014) (120)
Structural forms of the human amylase locus and their relationships to SNPs, haplotypes, and obesity (2015) (118)
Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11. (1998) (117)
Familiality of Quantitative Metabolic Traits in Finnish Families with Non-Insulin-Dependent Diabetes mellitus (1999) (117)
Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits. (2017) (117)
Trans-Ethnic Fine-Mapping of Lipid Loci Identifies Population-Specific Signals and Allelic Heterogeneity That Increases the Trait Variance Explained (2013) (116)
Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2017) (115)
Comprehensive Association Study of Type 2 Diabetes and Related Quantitative Traits With 222 Candidate Genes (2008) (114)
The Metabolic Syndrome in Men study: a resource for studies of metabolic and cardiovascular diseases (2017) (114)
Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq. (1994) (114)
Exome sequencing of Finnish isolates enhances rare-variant association power (2019) (113)
Mendelian Randomization Studies Do Not Support a Causal Role for Reduced Circulating Adiponectin Levels in Insulin Resistance and Type 2 Diabetes (2013) (113)
Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans (2017) (112)
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits (2017) (110)
Tissue-specific alternative splicing of TCF7L2 (2009) (110)
Methods for precise sizing, automated binning of alleles, and reduction of error rates in large-scale genotyping using fluorescently labeled dinucleotide markers. FUSION (Finland-U.S. Investigation of NIDDM Genetics) Study Group. (1997) (110)
Efficient study designs for test of genetic association using sibship data and unrelated cases and controls. (2006) (109)
High-throughput screening for evidence of association by using mass spectrometry genotyping on DNA pools (2002) (109)
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution (2011) (104)
Association of Ketone Body Levels With Hyperglycemia and Type 2 Diabetes in 9,398 Finnish Men (2013) (103)
Cosegregation of open-angle glaucoma and the nail-patella syndrome. (1997) (101)
A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. (2018) (100)
The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls (2018) (99)
Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus (2015) (98)
Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation (2013) (97)
The genetic regulatory signature of type 2 diabetes in human skeletal muscle (2016) (96)
Association of an apolipoprotein CII allele with familial dementia of the Alzheimer type. (1987) (96)
Mapping Genes for NIDDM: Design of the Finland—United States Investigation of NIDDM Genetics (FUSION) Study (1998) (95)
Variation in the resistin gene is associated with obesity and insulin-related phenotypes in Finnish subjects (2004) (95)
Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids (2019) (93)
Complement genes contribute sex-biased vulnerability in diverse illnesses (2020) (92)
A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease (2016) (92)
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes (2018) (91)
Exome Sequencing of Familial Bipolar Disorder. (2016) (91)
Exploring and visualizing large-scale genetic associations by using PheWeb (2020) (91)
The apolipoprotein E/CI/CII gene cluster and late-onset Alzheimer disease. (1994) (90)
Transcript expression-aware annotation improves rare variant interpretation (2020) (89)
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation (2020) (88)
Extensions to pedigree analysis. V. Optimal calculation of Mendelian likelihoods. (1983) (88)
Eight blood pressure loci identified by genome-wide association study of 34,433 people of European ancestry (2009) (88)
Loss of information due to ambiguous haplotyping of SNPs (1999) (87)
Common Variants in Maturity-Onset Diabetes of the Young Genes Contribute to Risk of Type 2 Diabetes in Finns (2006) (87)
IL6 Gene Promoter Polymorphisms and Type 2 Diabetes (2006) (87)
Evaluating drug targets through human loss-of-function genetic variation (2019) (86)
Linkage disequilibrium between microsatellite markers extends beyond 1 cM on chromosome 20 in Finns. (2001) (85)
A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants (2017) (85)
Mapping and characterization of structural variation in 17,795 human genomes (2020) (84)
Association of the calpain-10 gene with type 2 diabetes in Europeans: results of pooled and meta-analyses. (2006) (83)
Integrative analysis of gene expression, DNA methylation, physiological traits, and genetic variation in human skeletal muscle (2019) (83)
A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14. (2004) (83)
Rare Variant Association Testing for Sequencing Data Using the Sequence Kernel Association Test ( SKAT ) (2011) (82)
Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development. (2018) (82)
Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants. (2008) (81)
Ascertainment and goodness of fit of variance component models for pedigree data. (1984) (81)
Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns (2005) (81)
Alternative genetic models for the inheritance of the phenylthiocarbamide taste deficiency (1989) (81)
Effects of 34 Risk Loci for Type 2 Diabetes or Hyperglycemia on Lipoprotein Subclasses and Their Composition in 6,580 Nondiabetic Finnish Men (2011) (79)
Genetic association and linkage analysis of the apolipoprotein CII locus and familial Alzheimer's disease (1992) (79)
A common functional regulatory variant at a type 2 diabetes locus upregulates ARAP1 expression in the pancreatic beta cell. (2014) (78)
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2019) (78)
Causal Effect of Plasminogen Activator Inhibitor Type 1 on Coronary Heart Disease (2017) (78)
Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. (2019) (77)
Examination of genetic linkage of chromosome 15 to schizophrenia in a large Veterans Affairs Cooperative Study sample. (2001) (75)
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 (2009) (74)
Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa. (1991) (74)
Variation in three single nucleotide polymorphisms in the calpain-10 gene not associated with type 2 diabetes in a large Finnish cohort. (2002) (73)
Meta-analysis of human genome-microbiome association studies: the MiBioGen consortium initiative (2018) (73)
Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci (2019) (72)
Tag SNP selection for Finnish individuals based on the CEPH Utah HapMap database (2006) (71)
The effect of LRRK2 loss-of-function variants in humans (2020) (69)
Associations of autozygosity with a broad range of human phenotypes (2019) (68)
LocusZoom.js: interactive and embeddable visualization of genetic association study results (2021) (68)
Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q. (1996) (68)
PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION (2018) (67)
Selected locus and multiple panel models for radiation hybrid mapping. (1996) (66)
Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors (2020) (66)
Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D (2020) (65)
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity (2019) (65)
Increasing the power and efficiency of disease-marker case-control association studies through use of allele-sharing information. (2004) (65)
A saturated map of common genetic variants associated with human height (2022) (65)
Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree. (1998) (64)
Identifying marker typing incompatibilities in linkage analysis. (1996) (64)
Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci (2016) (63)
Underlying genetic models of inheritance in established type 2 diabetes associations. (2009) (62)
A look at linkage disequilibrium (2000) (61)
Assessing whether an allele can account in part for a linkage signal: the Genotype-IBD Sharing Test (GIST). (2004) (61)
Integration of human adipocyte chromosomal interactions with adipose gene expression prioritizes obesity-related genes from GWAS (2018) (60)
A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape (2016) (59)
Two models for a maternal factor in the inheritance of Huntington disease. (1983) (58)
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability (2020) (58)
Partitioning the variability of fasting plasma glucose levels in pedigrees. Genetic and environmental factors. (1987) (57)
New alcohol-related genes suggest shared genetic mechanisms with neuropsychiatric disorders (2019) (57)
Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype. (1998) (57)
Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (55)
Re-sequencing Expands Our Understanding of the Phenotypic Impact of Variants at GWAS Loci (2014) (55)
Pleiotropy Analysis of Quantitative Traits at Gene Level by Multivariate Functional Linear Models (2015) (54)
Polymorphism of adhesion molecule CD31 is not a significant risk factor for graft-versus-host disease. (1996) (54)
Common Variants Show Predicted Polygenic Effects on Height in the Tails of the Distribution, Except in Extremely Short Individuals (2011) (53)
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals (2020) (53)
Genetic linkage analysis of complex genetic traits by using affected sibling pairs. (1998) (53)
A tobit variance-component method for linkage analysis of censored trait data. (2003) (53)
Omics-squared: human genomic, transcriptomic and phenotypic data for genetic analysis workshop 19 (2016) (51)
Experimental design and error detection for polyploid radiation hybrid mapping. (1995) (50)
New Blood Pressure–Associated Loci Identified in Meta-Analyses of 475 000 Individuals (2017) (50)
Multiple Hepatic Regulatory Variants at the GALNT2 GWAS Locus Associated with High-Density Lipoprotein Cholesterol. (2015) (48)
Methods for meta‐analysis of multiple traits using GWAS summary statistics (2018) (48)
BRCA1 maps proximal to D17S579 on chromosome 17q21 by genetic analysis. (1993) (48)
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). (1991) (48)
Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy. (2003) (47)
Fine-structure genetic mapping of human chromosomes using the polymerase chain reaction on single sperm: experimental design considerations. (1989) (46)
Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study (2017) (45)
Multipoint radiation hybrid mapping: comparison of methods, sample size requirements, and optimal study characteristics. (1994) (45)
Novel association of TM6SF2 rs58542926 genotype with increased serum tyrosine levels and decreased apoB-100 particles in Finns[S] (2017) (45)
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2019) (45)
Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use (2019) (45)
Ascertainment-adjusted parameter estimates revisited. (2002) (44)
GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer (2020) (44)
Training of the next generation of biostatisticians: a call to action in the U.S. (2006) (44)
A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes (2017) (43)
The W64R variant of the β3-adrenergic receptor is not associated with Type II diabetes or obesity in a large Finnish sample (1999) (43)
Complex Segregation Analysis of Obsessive-Compulsive Disorder in Families with Pediatric Probands (2005) (43)
A radiation hybrid map of the BRCA1 region of chromosome 17q12-q21. (1993) (43)
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk (2017) (43)
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice (2019) (42)
Genotype‐based matching to correct for population stratification in large‐scale case‐control genetic association studies (2009) (41)
Meta-Analysis of 23 Type 2 Diabetes Linkage Studies from the International Type 2 Diabetes Linkage Analysis Consortium (2007) (41)
Univariate and bivariate analyses of cholesterol and triglyceride levels in pedigrees. (1986) (41)
Linkage relationship of X-linked juvenile retinoschisis with Xp22.1-p22.3 probes. (1990) (40)
Multi‐SKAT: General framework to test for rare‐variant association with multiple phenotypes (2018) (39)
A Type 2 Diabetes–Associated Functional Regulatory Variant in a Pancreatic Islet Enhancer at the ADCY5 Locus (2017) (39)
Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution (2009) (39)
A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10 (2004) (38)
Quantitative Trait Linkage Analysis Using Gaussian Copulas (2006) (37)
Correcting for Sample Contamination in Genotype Calling of DNA Sequence Data. (2015) (37)
Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study (2016) (37)
Human longevity and common variations in the LMNA gene: a meta‐analysis (2012) (36)
Linkage of chromosome 13q32 to schizophrenia in a large veterans affairs cooperative study sample. (2002) (36)
Monte Carlo comparison of preliminary methods for ordering multiple genetic loci. (1990) (35)
A radiation hybrid map of the distal short arm of human chromosome 11, containing the Beckwith-Wiedemann and associated embryonal tumor disease loci. (1993) (34)
A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression. (2018) (34)
Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use (2019) (33)
Multipoint analysis for radiation hybrid mapping. (1992) (33)
Familiality and partitioning the variability of femoral bone mineral density in women of child-bearing age (1992) (33)
Modest evidence for linkage and possible confirmation of association between NOTCH4 and schizophrenia in a large veterans affairs cooperative study sample (2003) (33)
Estimation of mutation rates based on the analysis of polypeptide constituents of cultured human lymphoblastoid cells. (1988) (32)
The role of HNF4A variants in the risk of type 2 diabetes (2005) (32)
A role for coding functional variants in HNF4A in type 2 diabetes susceptibility (2010) (32)
Genome-wide meta-analysis of common variant differences between men and women (2012) (31)
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 (2017) (31)
Identifying pedigrees segregating at a major locus for a quantitative trait: an efficient strategy for linkage analysis. (1989) (31)
Quantifying and correcting for the winner's curse in quantitative‐trait association studies (2011) (31)
Bayesian methods and optimal experimental design for gene mapping by radiation hybrids (1992) (30)
Ancestry-agnostic estimation of DNA sample contamination from sequence reads (2018) (30)
Replicating genotype – phenotype associations What constitutes replication of a genotype – phenotype association , and how best can it be achieved ? (2007) (29)
The effects of conditioning on probands to correct for multiple ascertainment. (1984) (29)
Analysis of Human Genetic Linkage, Third Edition. By Jurg Ott. Baltimore and London: The Johns Hopkins University Press, 1999. Pp. 405. $55.00. (2000) (29)
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 (2018) (29)
No Interactions Between Previously Associated 2-Hour Glucose Gene Variants and Physical Activity or BMI on 2-Hour Glucose Levels (2012) (29)
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes (2020) (29)
Integrated mapping analysis of the Werner syndrome region of chromosome 8. (1994) (29)
A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure. (2019) (28)
Adipose Tissue Gene Expression Associations Reveal Hundreds of Candidate Genes for Cardiometabolic Traits. (2019) (28)
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees (2017) (27)
Family risk index as a measure of familial heterogeneity of cancer risk. A population-based study in metropolitan Detroit. (1988) (26)
Comparison of sequential and fixed-structure sampling of pedigrees in complex segregation analysis of a quantitative trait. (1988) (26)
Epigenome-wide association in adipose tissue from the METSIM cohort (2018) (26)
Revisiting the genome-wide significance threshold for common variant GWAS (2021) (26)
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2017) (25)
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 (2005) (25)
Gene Level Meta-Analysis of Quantitative Traits by Functional Linear Models (2015) (25)
Complement genes contribute sex-biased vulnerability in diverse disorders (2020) (25)
Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution. (2019) (25)
Ordered subset analysis supports a glaucoma locus at GLC1I on chromosome 15 in families with earlier adult age at diagnosis. (2006) (25)
LASER server: ancestry tracing with genotypes or sequence reads (2017) (24)
A large sample of finnish diabetic sib-pairs reveals no evidence for a non-insulin-dependent diabetes mellitus susceptibility locus at 2qter. (1998) (24)
Genetic risk scores in the prediction of plasma glucose, impaired insulin secretion, insulin resistance and incident type 2 diabetes in the METSIM study (2017) (24)
Evaluation of genome-wide association study results through development of ontology fingerprints (2009) (24)
Imputation-Aware Tag SNP Selection To Improve Power for Large-Scale, Multi-ethnic Association Studies (2018) (24)
A radiation hybrid map of the region on human chromosome 22 containing the neurofibromatosis type 2 locus. (1992) (23)
Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms (2016) (23)
Meta‐analysis of genetic association studies and adjustment for multiple testing of correlated SNPs and traits (2010) (23)
Multicolor FISH mapping with Alu-PCR-amplified YAC clone DNA determines the order of markers in the BRCA1 region on chromosome 17q12-q21. (1993) (23)
Narrow-sense heritability estimation of complex traits using identity-by-descent information (2017) (22)
Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci (2022) (22)
Genome-wide association study identifies 30 loci associated with bipolar disorder (2019) (22)
Sequencing and imputation in GWAS: Cost‐effective strategies to increase power and genomic coverage across diverse populations (2019) (22)
Using sex‐averaged genetic maps in multipoint linkage analysis when identity‐by‐descent status is incompletely known (2006) (22)
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease (2020) (22)
Turning on and off recurrent balanced cortical activity (21)
Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (Nature Genetics (2010) 42 (105-116)) (2010) (20)
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2017) (20)
A radiation hybrid map of the proximal short arm of the human X chromosome spanning incontinentia pigmenti 1 (IP1) translocation breakpoints. (1992) (20)
Juvenile glaucoma linked to the GLC1A gene on chromosome 1q in a Panamanian family. (1997) (19)
Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology. (2019) (19)
Radiation hybrid mapping by minimization of the number of obligate chromosome breaks. (1992) (19)
The Michigan Genomics Initiative: A biobank linking genotypes and electronic clinical records in Michigan Medicine patients (2021) (19)
Commingling and segregation analyses: Comparison of results from a simulation study of a quantitative trait (1990) (19)
The Impact of Accelerating Faster than Exponential Population Growth on Genetic Variation (2013) (18)
Evaluation of SLC2A10 (GLUT10) as a candidate gene for type 2 diabetes and related traits in Finns. (2005) (18)
Trans-ancestry Fine Mapping and Molecular Assays Identify Regulatory Variants at the ANGPTL8 HDL-C GWAS Locus (2017) (18)
Tissue-specific alternative splicing of TCF 7 L 2 (2009) (17)
Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (17)
Proper conditional analysis in the presence of missing data: Application to large scale meta-analysis of tobacco use phenotypes (2018) (17)
Sample-size guidelines for linkage analysis of a dominant locus for a quantitative trait by the method of lod scores. (1990) (17)
Influence of genetic variants on gene expression in human pancreatic islets – implications for type 2 diabetes (2019) (17)
Association of Structural Variation with Cardiometabolic Traits in Finns (2020) (17)
Radiation hybrid map spanning the Huntington disease gene region of chromosome 4. (1992) (17)
Estimating Hepatic Glucokinase Activity Using a Simple Model of Lactate Kinetics (2012) (17)
Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family. (1996) (17)
Meta-analysis fine-mapping is often miscalibrated at single-variant resolution (2022) (17)
Nonrandom distribution of structural mutants in ethylnitrosourea-treated cultured human lymphoblastoid cells. (1988) (16)
Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma. (1996) (16)
Identification and Functional Characterization of G 6 PC 2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G 6 PC 2-ABCB 11 Locus (2015) (16)
Family with dominantly inherited ataxia, amyotrophy, and peripheral sensory loss. Spinopontine atrophy or Machado-Joseph Azorean disease in another non-Portuguese family? (1990) (16)
Meta-analysis of Complex Diseases at Gene Level with Generalized Functional Linear Models (2015) (16)
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder (2021) (16)
SNP Prioritization Using a Bayesian Probability of Association (2013) (15)
FTEC: a coalescent simulator for modeling faster than exponential growth (2012) (15)
Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis (2011) (15)
Importance of Different Types of Prior Knowledge in Selecting Genome‐Wide Findings for Follow‐Up (2013) (15)
Model-based assessment of replicability for genome-wide association meta-analysis (2021) (15)
The HUNT study: A population-based cohort for genetic research (2021) (15)
No large-effect low-frequency coding variation found for myocardial infarction. (2014) (14)
Corrigendum: Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies (2006) (14)
Causal relationship and shared genetic loci between psoriasis and type 2 diabetes through trans-disease meta-analysis. (2020) (14)
Correcting for single ascertainment by truncation for a quantitative trait. (1988) (14)
Genetic analysis of over one million people identifies 535 novel loci for blood pressure (2017) (14)
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention (2022) (14)
Genetic Determinants of Circulating Glycine Levels and Risk of Coronary Artery Disease (2019) (14)
ACE2 expression in adipose tissue is associated with COVID-19 cardio-metabolic risk factors and cell type composition (2020) (14)
A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene. (1989) (14)
Genome-wide association study of 1 million people identifies 111 loci for atrial fibrillation (2018) (13)
Genetics of human gut microbiome composition (2020) (12)
emeraLD: rapid linkage disequilibrium estimation with massive datasets (2018) (12)
Identification of type 2 diabetes loci in 433,540 East Asian individuals (2020) (12)
Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution. (2016) (12)
The Role of Environmental Heterogeneity in Meta‐Analysis of Gene–Environment Interactions With Quantitative Traits (2014) (12)
Interactions between genetic variation and cellular environment in skeletal muscle gene expression (2017) (11)
Congenital cataracts: de novo gene conversion event in CRYBB2 (2014) (11)
Evaluating the Calibration and Power of Three Gene‐Based Association Tests of Rare Variants for the X Chromosome (2015) (11)
Localization of the homolog of a mouse craniofacial mutant to human chromosome 18q11 and evaluation of linkage to human CLP and CPO. (1996) (11)
Selecting pedigrees for linkage analysis of a quantitative trait: the expected number of informative meioses. (1990) (11)
Molecular characterization of anti-idiotype antibody-resistant variants of a murine B cell lymphoma. (1990) (11)
Clustering of Type 2 Diabetes Genetic Loci by Multi-Trait Associations Identifies Disease Mechanisms and Subtypes (2018) (11)
Refined genetic mapping of juvenile X-linked retinoschisis. (1995) (10)
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (10)
Multi-SKAT: General framework to test for rare variant association with multiple phenotypes (2018) (10)
Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes (2021) (9)
Correction: Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults (2017) (9)
Subsets of Finns with High HDL to Total Cholesterol Ratio Show Evidence for Linkage to Type 2 Diabetes on Chromosome 6q (2006) (9)
A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans (2016) (9)
Linkage analysis of von Recklinghausen neurofibromatosis to DNA markers on chromosome 17. (1987) (9)
Association analysis and meta-analysis of multiallelic variants for large-scale sequence data (2020) (9)
Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation (2019) (9)
Subset-Based Analysis using Gene-Environment Interactions for Discovery of Genetic Associations across Multiple Studies or Phenotypes (2018) (8)
Genetic Analysis Workshop 7: radiation hybrid and somatic cell hybrid mapping of chromosome 21. (1992) (8)
Point and interval estimates of marker location in radiation hybrid mapping. (1999) (8)
Some combinatorial problems of DNA restriction fragment length polymorphisms. (1983) (8)
Correction: The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits (2013) (8)
A survey of functional dyspepsia in 361,360 individuals: Phenotypic and genetic cross‐disease analyses (2021) (8)
Erratum to: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits : (Nature Genetics, (2018), 50, 10, (1412-1425), 10.1038/s41588-018-0205-x) (2018) (8)
Identifying Plausible Genetic Models Based on Association and Linkage Results: Application to Type 2 Diabetes (2012) (8)
Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (8)
The use of apolipoprotein CII as a genetic marker for myotonic dystrophy. (1987) (8)
Rare coding variants in 35 genes associate with circulating lipid levels – a multi-ancestry analysis of 170,000 exomes (2020) (8)
Integrating comprehensive functional annotations to boost power and accuracy in gene-based association analysis (2019) (8)
Lod scores for gene mapping in the presence of marker map uncertainty (2001) (7)
Identification of genetic effects underlying type 2 diabetes in South Asian and European populations (2022) (7)
Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences (2020) (7)
Genetic analysis of eight breast-ovarian cancer families with suspected BRCA1 mutations. (1995) (7)
FIVEx: an interactive eQTL browser across public datasets (2021) (7)
Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries (2018) (6)
Erratum: Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci (American Journal of Human Genetics (2012) 90 (410-425)) (2012) (6)
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids (2021) (6)
The haplotype runs test: The parent‐parent‐affected offspring trio design (2004) (6)
Random glucose GWAS in 493,036 individuals provides insights into diabetes pathophysiology, complications and treatment stratification (2021) (6)
An algorithm to construct genetically similar subsets of families with the use of self-reported ethnicity information. (2005) (6)
Genome-wide association study of suicide attempt in psychiatric disorders identifies association with major depression polygenic risk scores (2018) (6)
Synergism of mutant frequencies in the mouse lymphoma cell mutagenicity assay by binary mixtures of methyl methanesulfonate and ethyl methanesulfonate. (1988) (5)
Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences (2020) (5)
Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders (2018) (5)
Juvenile glaucoma linked to GLCIA in a Panamanian family. (1996) (5)
Meta-analysis of quantitative pleiotropic traits for next-generation sequencing with multivariate functional linear models (2016) (5)
Exome array analysis identifies novel loci and low-frequency variants for insulin processing and secretion (2013) (5)
Localization of the gene for ATP citrate lyase (ACLY) distal to gastrin(GAS) and proximal to D17S856 on chromosome 17q12-q21. (1994) (5)
Erratum: Epigenome-wide association in adipose tissue from the METSIM cohort [Human Molecular Genetics., 27, 10, (2018), (1830-1846)] DOI: 10.1093/hmg/ddy093 (2018) (5)
Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts (2023) (5)
Linkage analysis of peripheral neurofibromatosis to DNA markers on chromosome 8. (1987) (5)
A note on Cannings and Thompson's sequential sampling scheme for pedigrees. (1986) (5)
THE FREQUENCY OF C4B VARIANTS OF COMPLEMENT IN FAMILIAL AND SPORADIC ALZHEIMER DISEASE (1987) (5)
Epigenome-wide association in adipose tissue from the METSIM cohort. (2018) (4)
Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2018) (4)
False discovery rates for genome-wide association tests in biobanks with thousands of phenotypes (2021) (4)
Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease (2019) (4)
Lod score curves for phase-unknown matings. (1996) (4)
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals (2022) (4)
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (4)
Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits. (2022) (4)
Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk (2022) (4)
Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2018) (3)
Data Related to Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use (2019) (3)
Association Analysis and Meta-Analysis of Multi-allelic Variants for Large Scale Sequence Data (2017) (3)
Common Genetic Variation and Age of Onset of Anorexia Nervosa (2021) (3)
Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries (2020) (3)
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (3)
Affected sib-pair interval mapping and exclusion for complex genetic traits: Inferring identity by descent status from relatives (1994) (3)
The Role of HNF 4 A Variants in the Risk of Type 2 Diabetes (2005) (3)
A powerful subset-based gene-set analysis method identifies novel associations and improves interpretation in UK Biobank (2019) (3)
A comparison study of multivariate fixed models and Gene Association with Multiple Traits (GAMuT) for next‐generation sequencing (2017) (3)
ACE2 expression in adipose tissue is associated with cardio-metabolic risk factors and cell type composition—implications for COVID-19 (2022) (3)
Complement component 4 genes contribute sex-specific vulnerability in diverse illnesses (2019) (3)
Supplementary Material 7 (2014) (3)
FIVEx: an interactive multi-tissue eQTL browser (2021) (3)
Supplementary Material 5 (2014) (3)
Power and sample size calculations for designing rare variant sequencing association studies (2011) (3)
A powerful subset-based method identifies gene set associations and improves interpretation in UK Biobank. (2021) (3)
Imputation aware tag SNP selection to improve power for multi-ethnic association studies (2017) (3)
Common non-coding SNPs near the Hepatocyte Nuclear Factor-4 Alpha gene are associated with type 2 diabetes (2003) (3)
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (3)
A Variance-Component Framework for Pedigree Analysis of Continuous and Categorical Outcomes (2009) (3)
Software for determining most likely relationships in relative pairs (1997) (3)
Supplementary Material 6 (2014) (3)
Exome sequencing of Finnish isolates enhances rare-variant association power (2019) (3)
Supplementary Material 3 (2015) (3)
Genome-wide characterization of circulating metabolic biomarkers reveals substantial pleiotropy and novel disease pathways (2022) (2)
Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney (2017) (2)
Proper Conditional Analysis in the Presence of Missing Data Identified Novel Independently Associated Low Frequency Variants in Nicotine Dependence Genes (2017) (2)
Multi-ancestry genome-wide gene–smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids (2019) (2)
Haplotype association analysis for late onset diseases using nuclear family data (2006) (2)
Genome-wide association scans identify novel loci that influence lipid levels and risk of coronary artery disease (2007) (2)
Combining sequence data from multiple studies: Impact of analysis strategies on rare variant calling and association results (2020) (2)
Genome-wide association study of 1,391 plasma metabolites in 6,136 Finnish men identifies 303 novel signals and provides biological insights into human diseases (2021) (2)
Association Analysis and Meta-Analysis of Multi-Allelic Variants for Large-Scale Sequence Data (2020) (2)
University of Groningen Physical Activity Attenuates the Influence of FTO Variants on Obesity Risk (2011) (2)
Multi-SKAT: General framework to test multiple phenotype associations of rare variants (2017) (2)
Extent to which array genotyping and imputation with large reference panels approximate deep whole-genome sequencing. (2022) (2)
AUTOSOMAL DOMINANT NANOPHTHALMOS MAPS TO CHROMOSOME 11 (1999) (2)
HLA--D typing with lymphoblastoid cell lines. VIII. Cut points and gene frequency estimates by multiple testing analysis. (2008) (1)
Supplementary Material 4 (2015) (1)
Mitochondrial genome copy number in human blood-derived DNA is strongly associated with insulin levels and related metabolic traits and primarily reflects cell-type composition differences (2020) (1)
X-Linked Macular Degeneration Associated with a RPGR Nonsense Mutation Causing Premature Termination (2002) (1)
Search for novel type 2 diabetes susceptibility loci using genome-wide association studies imputed from a 1000 Genomes references panel (2012) (1)
Novel Genetic Loci Implicated in Fasting Glucose Homeostasis and Their Impact on Related Metabolic Traits (2009) (1)
Transcript expression-aware annotation improves rare variant interpretation (2020) (1)
Meta‐analysis of gene‐environment interaction exploiting gene‐environment independence across multiple case‐control studies (2017) (1)
Meta-analysis of Genetic Associations in up to 339,224 Individuals Identify 66 New Loci for Bmi, Confirming a Neuronal Contribution to Body Weight Regulation and Implicating Several Novel Pathways (2013) (1)
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity (2019) (1)
Exome chip meta-analysis elucidates the genetic architecture of rare coding variants in smoking and drinking behavior (2017) (1)
Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology. (2019) (1)
Genetics of middle-age onset primary open angle glaucoma (1996) (1)
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution (2019) (1)
Author Correction: Integration of human adipocyte chromosomal interactions with adipose gene expression prioritizes obesity-related genes from GWAS (2018) (1)
Association of body composition with odds of breast cancer by molecular subtype: analysis of the Mechanisms for Established and Novel Risk Factors for Breast Cancer in Nigerian Women (MEND) study (2021) (1)
Localization of the human homolog of the yeast cell division control 27 gene (CDC27) proximal to ITGB3 on human chromosome 17q21.3 (1995) (1)
Digenic Inheritance of Dominant TRAF6 and Recessive OSMR Pathogenic Variants Associated with Short Stature, Atopy, and Eosinophilic Inflammation (2022) (1)
Exome sequencing identifies high-impact trait-associated alleles enriched in Finns (2018) (1)
Erratum: Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology (The American Journal of Human Genetics (2019) 105(1) (15–28), (S0002929719301880), (10.1016/j.ajhg.2019.05.002)) (2019) (1)
Supplementary Material 9 (2013) (1)
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals (2020) (1)
Low-coverage sequencing : Implications for design of complex trait Material Supplemental (2011) (1)
Power loss due to testing association between covariate-adjusted traits and genetic variants. (2020) (1)
Loci for insulin processing and secretion provide insight into type 2 diabetes risk. (2023) (1)
Discovery and Refinement Supplementary (2015) (1)
Supplementary Material 15 (2013) (1)
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals (2018) (1)
Physical activity and sedentary behavior; mechanistic insights and role in disease prevention (2021) (1)
Genetic linkage studies in ataxia-telangiectasia: Gm markers. (1985) (1)
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (2021) (1)
Large scale trans-ethnic meta-analyses identify novel rare and common variants associated with blood pressure and hypertension (2016) (1)
Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability (2021) (1)
Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences (2021) (0)
Genome-Wide Association Identi ﬁ es Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes (2011) (0)
Mapping and characterization of structural variation in 17,795 human genomes (2020) (0)
Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals (2021) (0)
Differences in the Commonly used Genotype Imputation Algorithms and Their Imputation Accuracy Estimates (2018) (0)
A controlled family study of early-onset obsessive-compulsive disorder (2000) (0)
Edinburgh Research Explorer Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2018) (0)
Author Correction: Identification of genetic effects underlying type 2 diabetes in South Asian and European populations (2022) (0)
Integration of human adipocyte chromosomal interactions with adipose gene expression prioritizes obesity-related genes from GWAS (2018) (0)
FGF-2 related methods for the diagnosis and treatment of depression (2006) (0)
Author Correction: A structural variation reference for medical and population genetics (2021) (0)
Acknowledgement to referees 2003 (2004) (0)
emeraLD: Rapid Linkage Disequilibrium Estimation with Massive Data Sets (2018) (0)
Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power (2019) (0)
Genetic evidence that high BMI in childhood has a protective effect on intermediate diabetes traits, including measures of insulin sensitivity and secretion (2023) (0)
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (2020) (0)
Epilogue: What the Future Holds: Genomic Medicine at the Heart of Diabetes Management (2016) (0)
Acknowledgement to referees 2002 (2003) (0)
Genetic Linkage ofBeckwith-Wiedemann (1989) (0)
Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2021) (0)
Use of experimentally constructed haplotypes in gene mapping studies of hereditary cancers (2001) (0)
Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans (2018) (0)
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls (2019) (0)
A genome-wide association study of IVGTT-based measures of first phase insulin secretion refines the underlying physiology of type 2 diabetes variants Mechanisms of type 2 diabetes genetic risk factors (2017) (0)
Comparing Power for Gene-based and Low-frequency SNP Tests in Quantitative Traits (a GoT2D Study) (2012) (0)
Selected LocusandMultiple Panel Models forRadiation Hybrid Mapping (1996) (0)
Meta-analyzed single SNP interactions with physical activity* on BMI. (2013) (0)
Abstract/Session Information for Program Number 2167 (2008) (0)
The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits. (2023) (0)
Supplementary Material (nature09270-s1) (2012) (0)
Analysis of human genetic linkage (1992) (0)
2014 Curt Stern Award introduction: Gonçalo Abecasis. (2015) (0)
Association of lipid profile biomarkers with breast cancer by molecular subtype: analysis of the MEND study (2022) (0)
Correction: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder (2021) (0)
Identification of Susceptibility Genes for Age-related Macular Degeneration (2002) (0)
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (0)
Abstract MP63: Fine-mapping and Characterization of Adiponectin Gwas Loci Harboring Extensive Allelic Heterogeneity (2018) (0)
Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2018) (0)
Probable exclusion of GLC1B as a candidate locus in two middle-age-onset primary open angle glaucoma families (1997) (0)
Use of experimentally constructed haplotypes in gene mapping studies of hereditary cancers (2001) (0)
Exploring and visualizing large-scale genetic associations by using PheWeb (2020) (0)
Erratum: Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci (Cell Metabolism (2010) 12 (443-455)) (2010) (0)
Error identification for radiation hybrids using the distribution of the number of obligate chromosome breaks (1994) (0)
Author Correction: GWAS of thyroid stimulating hormone highlights the pleiotropic effects and inverse association with thyroid cancer (2021) (0)
Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder (2018) (0)
Author Correction: Evaluating drug targets through human loss-of-function genetic variation (2021) (0)
Using Ontology Fingerprints to Evaluate Genome-wide Association Results (2009) (0)
The mutational constraint spectrum quantified from variation in 141,456 humans (2020) (0)
Meta-analysis of human genome-microbiome association studies: the MiBioGen consortium initiative (2018) (0)
Lipid loci with multiple signals in Europeans. (2013) (0)
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology (2018) (0)
Evaluating drug targets through human loss-of-function genetic variation (2020) (0)
A catalog of genetic loci associated with kidney function from analyses of a million individuals (2019) (0)
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (0)
Author Correction: Integration of human adipocyte chromosomal interactions with adipose gene expression prioritizes obesity-related genes from GWAS (2018) (0)
Software for identifying marker typing incompatibilities in linkage analysis (1996) (0)
Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2017) (0)
Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (0)
BRCAIMapsProximal toD I7S579on Chromosome17q2I by Genetic Analysis (1993) (0)
Mendelian Randomization Studies of the Role of Biomarkers in Type 2 Diabetes (2009) (0)
Evaluation of polygenic risk scores to differentiate between type 1 and type 2 diabetes. (2023) (0)
DrFARM: Identification and inference for pleiotropic gene in GWAS (2022) (0)
Trans-ethnic meta-analysis of rare variants in sequencing association studies. (2019) (0)
Author Correction: Transcript expression-aware annotation improves rare variant interpretation (2021) (0)
Genome-wide association study imputed to 1000 Genomes Project reference panels reveals 17 novel associations with type 2 diabetes (2015) (0)
Utility of family history in disease prediction in the era of polygenic scores (2021) (0)
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (0)
Localization of the H u m a n Homolog of the Yeast Cell Division Control 27 Gene ( CDC 27 ) Proximal to ITGB 3 on H u m a n Chromosome 17 q 21 . 3 (2005) (0)
Moment to moment fluctuations in testosterone and estradiol secretion in men studied by gonadal vein sampling (1985) (0)
A structural variation reference for medical and population genetics (2020) (0)
Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (0)
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2020) (0)
Progress in clinical and biological research, vol. 329: Multipoint mapping and linkage analysis based upon affected pedigree members: Genetic analysis workshop 6 (1990) (0)
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes (2018) (0)
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes (2018) (0)
factor for graft-versus-host disease Polymorphism of adhesion molecule CD31 is not a significant risk (2011) (0)
Edinburgh Research Explorer Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes (2018) (0)
Trans-ancestry Fine Mapping and Molecular Assays Identify Regulatory Variants at the ANGPTL 8 HDLC GWAS Locus Cannon (0)
Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications (2023) (0)
Genetic and physical mapping of the Nijmegen Breakage Syndrome gene region at 8q21 (1998) (0)
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (0)
The effect of LRRK2 loss-of-function variants in humans (2020) (0)
Congenital Cataract Locus in a Seven Generation Family (2013) (0)
Recombination fraction estimate of zero in the presence of apparent recombinants: Effects of incomplete penetrance and sporadic cases (1995) (0)
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2019) (0)
Using Ontology Fingerprints to evaluate genome-wide association study results (2009) (0)
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (0)

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