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List of works by Joel Hirschhorn

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

scientific article published on 14 December 2011

2013 Victor A. McKusick Leadership Award Introduction: Kurt and Rochelle Hirschhorn1.

scientific article published in March 2014

5' flanking variants of resistin are associated with obesity

scientific article published in May 2002

52 Genetic Loci Influencing Myocardial Mass

scientific article

A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant

scientific journal article

A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes

scientific article published on 27 April 2018

A Genomewide Pharmacogenetic Study of Growth Hormone Responsiveness

scientific article published on 11 July 2020

A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization

scientific article

A common genetic variant is associated with adult and childhood obesity

scientific article

A common variant of HMGA2 is associated with adult and childhood height in the general population

scientific article

A comprehensive analysis of common genetic variation in prolactin (PRL) and PRL receptor (PRLR) genes in relation to plasma prolactin levels and breast cancer risk: the multiethnic cohort

scientific article

A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort

scientific article

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A genome-wide association meta-analysis identifies new childhood obesity loci

scientific article

A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry

scientific article

A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype

scientific article

A novel common variant in DCST2 is associated with length in early life and height in adulthood

scientific article published on 3 October 2014

A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency.

scientific article published on 20 December 2013

A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity

scientific article published on 16 October 2014

A positively selected FBN1 missense variant reduces height in Peruvian individuals

scientific article published on 13 May 2020

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

scientific article published on 23 November 2016

A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism

scientific article

A survey of allelic imbalance in F1 mice

scientific article published on 6 February 2008

A systematic assessment of common genetic variation in CYP11A and risk of breast cancer

scientific article published in December 2006

Across-cohort QC analyses of GWAS summary statistics from complex traits

scientific article

Across-cohort QC analyses of genome-wide association study summary statistics from complex traits

article published in 2015

An age-dependent diet-modified effect of the PPARγ Pro12Ala polymorphism in children

scientific article published on 23 May 2010

An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases

scientific article

Assessing the impact of population stratification on genetic association studies

scientific article

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

scientific article

Association between variants in or near PNPLA3, GCKR, and PPP1R3B with ultrasound-defined steatosis based on data from the third National Health and Nutrition Examination Survey

scientific article

Association of Linear Growth Impairment in Pediatric Crohn's Disease and a Known Height Locus: A Pilot Study ⬇️

scientific article published on September 15, 2010

Association of adiposity genetic variants with menarche timing in 92,105 women of European descent

scientific article published on 04 April 2013

Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure

scientific article published on 15 February 2009

Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes

scientific article published on 01 August 2005

Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche

scientific article published on 26 August 2008

Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes

scientific article published on 01 December 2004

Association testing of previously reported variants in a large case-control meta-analysis of diabetic nephropathy

scientific article

Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people

scientific article published in June 2005

Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people

scientific article published on 01 March 2005

Benchmarker: An Unbiased, Association-Data-Driven Strategy to Evaluate Gene Prioritization Algorithms

article

Benchmarker: an unbiased, association-data-driven strategy to evaluate gene prioritization algorithms

article

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

scientific article published on 19 January 2015

Blood Leukocyte DNA Methylation Predicts Risk of Future Myocardial Infarction and Coronary Heart Disease

scientific article published on 19 August 2019

Bona fide genetic associations with bone mineral density

scientific article published on 29 April 2008

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

scientific article published on 27 September 2018

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts

scientific article

CCL2 polymorphisms are associated with serum monocyte chemoattractant protein-1 levels and myocardial infarction in the Framingham Heart Study

scientific article

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

scientific article published on 29 September 2017

CYP17 genetic variation and risk of breast and prostate cancer from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3).

scientific article published in November 2007

CYP19A1 genetic variation in relation to prostate cancer risk and circulating sex hormone concentrations in men from the Breast and Prostate Cancer Cohort Consortium

scientific article

Candidate gene association resource (CARe): design, methods, and proof of concept

scientific article

Candidate genes for obesity-susceptibility show enriched association within a large genome-wide association study for BMI.

scientific article

Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity

scientific article published on 01 July 2019

Choosing haplotype-tagging SNPS based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study

scientific article

Chromosome 2q31.1 associates with ESRD in women with type 1 diabetes

scientific article

Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis

scientific article published in January 2005

Clinical and genetic correlates of aldosterone-to-renin ratio and relations to blood pressure in a community sample

scientific article published on 12 February 2007

Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium

scientific article

Common Genetic Variation at the Endothelial Nitric Oxide Synthase Locus and Relations to Brachial Artery Vasodilator Function in the Community

Common Genetic Variation in Five Thrombosis Genes and Relations to Plasma Hemostatic Protein Level and Cardiovascular Disease Risk

article

Common Genetic Variation in KCNH2 Is Associated With QT Interval Duration

scientific article published on 20 August 2007

Common body mass index-associated variants confer risk of extreme obesity

scientific article

Common body mass index-associated variants confer risk of extreme obesity

Common genetic variation in IGF1 and prostate cancer risk in the Multiethnic Cohort.

scientific article published in January 2006

Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation

scientific article published on 2 June 2007

Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations

scientific article

Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals

scientific article published on 01 October 2006

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort

scientific article published on 18 August 2004

Comprehensive Survey of Common Genetic Variation at the Plasminogen Activator Inhibitor-1 Locus and Relations to Circulating Plasminogen Activator Inhibitor-1 Levels

Comprehensive analysis of schizophrenia-associated loci highlights ion channel pathways and biologically plausible candidate causal genes

scientific article published on 10 January 2016

Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

scientific article

Comprehensive evaluation of ESR2 variation and ovarian cancer risk

scientific article

Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations

scientific article published on 19 March 2020

Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms

scientific article published on 28 December 2016

Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms

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

scientific article

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

scientific article published on 18 March 2012

Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect

scientific article

Conserved noncoding sequences are selectively constrained and not mutation cold spots

article by Jared A Drake et al published 25 December 2005 in Nature Genetics

Contribution of Clinical Correlates and 13 C-Reactive Protein Gene Polymorphisms to Interindividual Variability in Serum C-Reactive Protein Level

article

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

scientific article

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

scientific article

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

scientific article published on 27 July 2009

Correction: Genome-Wide Association Studies of Asthma in Population-Based Cohorts Confirm Known and Suggested Loci and Identify an Additional Association near HLA

scientific article published in PLoS ONE

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

scientific article published on 23 August 2017

Correction: Identification, Replication, and Fine-Mapping of Loci Associated with Adult Height in Individuals of African Ancestry.

scientific article published on 21 November 2011

Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

scientific article published on 01 February 2020

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

scientific article

Correction: The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits.

scientific article published on 25 April 2013

DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

scholarly article

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

scientific article published on 16 September 2015

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

scientific article

Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome

scientific article

Demonstrating stratification in a European American population

Detection of regulatory variation in mouse genes

scientific article published on 15 October 2002

Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders.

scientific article published on 17 August 2016

Determination of Sequence Variation and Haplotype Structure for the Gonadotropin-Releasing Hormone (GnRH) and GnRH Receptor Genes: Investigation of Role in Pubertal Timing

article

Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015

Discerning the ancestry of European Americans in genetic association studies

scientific article

Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium.

scientific article

Discovery and refinement of loci associated with lipid levels

scientific article

Distinct variants at LIN28B influence growth in height from birth to adulthood

scientific article

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

scientific article

Does a short breastfeeding period protect fromFTO-induced adiposity in children?

article

ERRATUM: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

article by Matthew B. Lanktree et al published June 2012 in American Journal of Human Genetics

Enhanced statistical tests for GWAS in admixed populations: assessment using African Americans from CARe and a Breast Cancer Consortium

scientific article

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

scientific article published in November 2011

Evidence of widespread selection on standing variation in Europe at height-associated SNPs ⬇️

scientific article published on August 19, 2012

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

scientific article

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

scientific article published on 30 October 2017

FTO genotype is associated with phenotypic variability of body mass index

scientific article published on 16 September 2012

Fast and accurate imputation of summary statistics enhances evidence of functional enrichment

scientific article

Fatty liver is associated with dyslipidemia and dysglycemia independent of visceral fat: the Framingham Heart Study

scientific article

Fine mapping of the association with obesity at the FTO locus in African-derived populations

scientific article

Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation

scientific article

Functional significance of single nucleotide polymorphisms in the lactase gene in diverse US patients and evidence for a novel lactase persistence allele at -13909 in those of European ancestry

scientific article

Gencrypt: one-way cryptographic hashes to detect overlapping individuals across samples

scientific article published on February 2012

Gene expression analysis identifies global gene dosage sensitivity in cancer.

scientific article published on 12 January 2015

Gene-Environment Interactions Associated with the Severity of Acute Asthma Exacerbation in Children

scientific article published on 01 March 2018

Gene-based meta-analysis of genome-wide association studies implicates new loci involved in obesity

scientific article

Genetic Evidence That Carbohydrate-Stimulated Insulin Secretion Leads to Obesity.

scientific article published in January 2018

Genetic Evidence for a Causal Role of Obesity in Diabetic Kidney Disease

scientific article

Genetic approaches to stature, pubertal timing, and other complex traits ⬇️

scientific article published on September 1, 2003

Genetic association studies of complex traits: design and analysis issues

scientific article

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

scientific article

Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia

scientific article

Genetic determinants of pubertal timing in the general population.

scientific article

Genetic evaluation of short stature.

scientific article

Genetic evidence of assortative mating in humans

article

Genetic model testing and statistical power in population-based association studies of quantitative traits

scientific article published on 01 May 2007

Genetic signatures of strong recent positive selection at the lactase gene

scientific article

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

scientific article

Genetic variants of TSLP and asthma in an admixed urban population

scientific article

Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women

scientific article

Genetic variation in the HSD17B1 gene and risk of prostate cancer

scientific article

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

scientific article published on 26 June 2011

Genetics of common forms of obesity: a brief overview.

scientific article

Genome-Wide Association Studies: Results from the First Few Years and Potential Implications for Clinical Medicine ⬇️

scientific article published on January 1, 2011

Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen

scientific article published on 19 September 2019

Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development

scientific article

Genome-wide association analyses identify variants in developmental genes associated with hypospadias

scientific article published on 10 August 2014

Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

scientific article published on 24 November 2015

Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits

scientific article

Genome-wide association of anthropometric traits in African- and African-derived populations

scientific article

Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions.

scientific article

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

scientific article

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

scientific article published in June 2009

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

scientific article

Genome-wide association studies in pediatric endocrinology

scientific article published on 05 April 2011

Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.

scientific article

Genome-wide association studies: past, present and future

scientific article published on 01 October 2008

Genome-wide association studies: potential next steps on a genetic journey

scientific article published on October 2008

Genome-wide association study identifies 48 common genetic variants associated with handedness

scientific article published on 28 September 2020

Genome-wide association study of age at menarche in African-American women

scientific article published on 17 April 2013

Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project

scientific article

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia

scientific article

Genome-wide comparison of African-ancestry populations from CARe and other cohorts reveals signals of natural selection

scientific article

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

scientific article

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

scientific article published on 27 April 2017

Genomewide association studies--illuminating biologic pathways

scientific article published on 15 April 2009

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Genomic inflation factors under polygenic inheritance

scientific article

Haplotype analysis of the HSD17B1 gene and risk of breast cancer: a comprehensive approach to multicenter analyses of prospective cohort studies

scientific article published in February 2006

Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region

scientific article published in May 2004

Haplotype structures and large-scale association testing of the 5' AMP-activated protein kinase genes PRKAA2, PRKAB1, and PRKAB2 [corrected] with type 2 diabetes

scientific article published in March 2006

Haplotype-based association studies of IGFBP1 and IGFBP3 with prostate and breast cancer risk: the multiethnic cohort

scientific article

Haplotypes of the estrogen receptor beta gene and breast cancer risk

scientific article published on January 2008

Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank

scientific article

Hepatic NADH reductive stress underlies common variation in metabolic traits

scientific article published on 27 May 2020

Heritability, Linkage, and Genetic Associations of Exercise Treadmill Test Responses

article

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature

scientific article

High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people

scientific article published in January 2006

Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A.

scientific article

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

scientific article

Identification of IL6R and chromosome 11q13.5 as risk loci for asthma

scientific article

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

scientific article

Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry

scientific article

Igf-I genetic variation and breast cancer: the multiethnic cohort

scientific article

Improved ancestry inference using weights from external reference panels

scientific article published on 28 March 2013

In genetic control of disease, does 'race' matter?

scientific article published on 01 December 2004

Inborn variation in metabolism

scientific article published on 01 February 2010

Increased burden of cardiovascular disease in carriers of APOL1 genetic variants

scientific article published on 30 December 2013

Insights and Implications of Genome-Wide Association Studies of Height

scientific article published on 01 September 2018

Integrating untargeted metabolomics, genetically informed causal inference, and pathway enrichment to define the obesity metabolome

scientific article published on 28 May 2020

Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia

scientific article

Interrogating local population structure for fine mapping in genome-wide association studies.

scientific article

Interrogation of human hematopoiesis at single-cell and single-variant resolution

scholarly article published 28 January 2018

Interrogation of human hematopoiesis at single-cell and single-variant resolution

scientific article published on 11 March 2019

Investigation of the estrogen receptor-alpha gene with type 2 diabetes and/or nephropathy in African-American and European-American populations

scientific article published on 01 March 2007

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies

scientific article

Lactose and lactase--who is lactose intolerant and why?

scientific article published on December 2007

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

scientific article

Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse

article by Kerstin Lindblad-Toh et al published April 2000 in Nature Genetics

Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function

scientific article published on 10 April 2017

Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature

scientific article published on 14 June 2013

Liver fat is reproducibly measured using computed tomography in the Framingham Heart Study

scientific article

Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity

scientific journal article

MEF2A sequence variants and coronary artery disease: a change of heart?

scientific article published on April 2005

Mendelian randomisation analyses find pulmonary factors mediate the effect of height on coronary artery disease

scientific article published on 27 March 2019

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

scientific article

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

scientific article

Meta-analysis of gene-level associations for rare variants based on single-variant statistics

scientific article published on 25 July 2013

Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease

scientific article

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry

article by Sara Pulit et al published 1 January 2019 in Human Molecular Genetics

Meta-analysis of genome-wide association studies for height and body mass index in ~700,000 individuals of European ancestry

scholarly article published 2 March 2018

Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry

article

Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization

scientific article

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

scientific article published on 23 October 2009

Metabolomic profiles as reliable biomarkers of dietary composition

scientific article published on 11 January 2017

Mining the human phenome using allelic scores that index biological intermediates

scientific article

Modeling and E-M estimation of haplotype-specific relative risks from genotype data for a case-control study of unrelated individuals

scientific article

Modifier genes in Mendelian disorders: the example of hemoglobin disorders

scientific article published on October 29, 2010

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

scientific article published on 22 December 2017

NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium

scientific article

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

scientific article

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

scientific article published on 2 December 2012

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

scientific article published on February 2016

New susceptibility loci associated with kidney disease in type 1 diabetes

scientific article

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index

scientific article

Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein

scientific article

OR07-6 Integrating Targeted Bioinformatic Searches of the Electronic Health Records and Genomic Testing Identifies a Molecular Diagnosis in Three Patients with Undiagnosed Short Stature.

scientific article published on 30 April 2019

On the replication of genetic associations: timing can be everything!

scientific article published on April 2008

Once and Again—Issues Surrounding Replication in Genetic Association Studies

Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder

scientific article published on 10 June 2022

PAIRUP-MS: Pathway analysis and imputation to relate unknowns in profiles from mass spectrometry-based metabolite data

scientific article published on 14 January 2019

PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease

scientific article

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

article

Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns

scientific article published on December 2002

Peroxisome proliferator-activated receptor-gamma (PPARgamma) Pro12Ala polymorphism and risk for pediatric obesity

scientific article published on 01 January 2009

Phenotype-genotype association grid: a convenient method for summarizing multiple association analyses

scientific article

Phenotypic variation in constitutional delay of growth and puberty: relationship to specific leptin and leptin receptor gene polymorphisms

article

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

scientific article

Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies

scientific article published on 21 March 2019

Polymorphisms associated with cholesterol and risk of cardiovascular events

scientific article

Population genetic differentiation of height and body mass index across Europe

scientific article

Potential causal role of l-glutamine in sickle cell disease painful crises: A Mendelian randomization analysis

scientific article published on 10 September 2020

Progress in genome-wide association studies of human height.

scientific article published on 29 April 2009

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

scientific article published on 22 December 2017

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

article

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

scientific article published on 16 March 2018

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

scientific article

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

scientific article published on 01 July 2019

Rapid assessment of genetic ancestry in populations of unknown origin by genome-wide genotyping of pooled samples

scientific article

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels.

scientific article

Replication and fine mapping of asthma-associated loci in individuals of African ancestry

scientific article

Reply

Response to Letter to the Editor: "A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness"

scientific article published on 11 November 2020

Response to Wang et al.

scientific article published in June 2005

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

scientific article published on 17 October 2013

SNPsnap: a Web-based tool for identification and annotation of matched SNPs

scientific article

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

scientific article

Shared genetic variants suggest common pathways in allergy and autoimmune diseases

scientific article published on 7 February 2017

Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies

scholarly article published 25 June 2018

Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland

scientific article

Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study

scientific article

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

scientific article

Small island, big genetic discoveries.

scientific article

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

scientific article

Systematic evaluation of genetic variation at the androgen receptor locus and risk of prostate cancer in a multiethnic cohort study

scientific article

Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells

scientific article

Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels

scientific article published on 20 December 2019

Testing the role of predicted gene knockouts in human anthropometric trait variation

scientific article

The Consortium of Metabolomics Studies (COMETS): Metabolomics in 47 Prospective Cohort Studies

scientific article published on 01 June 2019

The ENPP1 K121Q polymorphism is associated with type 2 diabetes in European populations: evidence from an updated meta-analysis in 42,042 subjects

scientific article published on 10 December 2007

The Genetic Landscape of Renal Complications in Type 1 Diabetes

scientific article

The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

scientific article published on 04 September 2019

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

scientific article

The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people

scientific article

The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts

scientific article

The efficacy of detecting variants with small effects on the Affymetrix 6.0 platform using pooled DNA.

scientific article

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

scientific article published on 12 September 2016

The history of African gene flow into Southern Europeans, Levantines, and Jews

scientific article

The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits

scientific article published on January 2003

The landscape of recombination in African Americans

scientific article

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

scientific article

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

The power of meta-analysis in genome-wide association studies

scientific article (publication date: 2013)

Transferability of tag SNPs in genetic association studies in multiple populations

scientific article published on 22 October 2006

Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram

scientific article published on 08 March 2016

Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing

scientific article published on 24 August 2016

Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms

scientific article

Ultraconserved elements: analyses of dosage sensitivity, motifs and boundaries

scientific article

Use of weighted reference panels based on empirical estimates of ancestry for capturing untyped variation

scientific article

Using metabolite profiling to construct and validate a metabolite risk score for predicting future weight gain

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

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Vascular stiffness and genetic variation at the endothelial nitric oxide synthase locus: the Framingham Heart study

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Whole Exome Sequencing Reveals a Novel Mutation in CUL7 in a Patient with an Undiagnosed Growth Disorder ⬇️

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Whole exome sequencing to identify genetic causes of short stature

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