Joel Hirschhorn, MD, PhD
Chief, Division of Endocrinology; Attending Physician, Division of Endocrinology
Concordia Professor of Pediatrics and Professor of Genetics, Harvard Medical School
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Joel Hirschhorn, MD, PhD
Chief, Division of Endocrinology; Attending Physician, Division of Endocrinology
Concordia Professor of Pediatrics and Professor of Genetics, Harvard Medical School
Medical Services
Languages
English
Education
Undergraduate School
AB Summa Cum Laude
Harvard College
1986
Cambridge
MA
Graduate School
PhD, Genetics
Harvard University
1995
Boston
MA
Medical School
Harvard Medical School
1995
Boston
MA
Internship
Pediatrics
Boston Children's Hospital
1996
Boston
MA
Residency
Pediatrics
Boston Children's Hospital
1997
Boston
MA
Fellowship
Pediatric Endocrinology
Boston Children's Hospital
2000
Boston
MA
Certifications
American Board of Pediatrics (Endocrinology)
Professional History
Dr. Hirschhorn serves as an expert for the Department of Endocrinology for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit bostonchildrens.org/precisionmed.
Publications
Genome-Wide Association Study of Quantitative Kidney Function in 52,531 Individuals with Diabetes Identifies Five Diabetes-Specific Loci. View Abstract
The genetic basis of human height. View Abstract
Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height. View Abstract
Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism. View Abstract
Associations between phenotypes of childhood and adolescent obesity and incident hypertension in young adulthood. View Abstract
Blood methylation biomarkers are associated with diabetic kidney disease progression in type 1 diabetes. View Abstract
Functional genomics of human skeletal development and the patterning of height heritability. View Abstract
A Novel Role for FERM Domain-Containing Protein 3 in CKD. View Abstract
Non-canonical Wnt signaling triggered by WNT2B drives adrenal aldosterone production. View Abstract
An integrative framework to prioritize genes in more than 500 loci associated with body mass index. View Abstract
Associations Between Phenotypes of Childhood and Adolescent Obesity and Incident Hypertension in Young Adulthood. View Abstract
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. View Abstract
Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome. View Abstract
Inferring compound heterozygosity from large-scale exome sequencing data. View Abstract
Phenotyping children and adolescents with obesity using behavioral, psychological, and familial data. View Abstract
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty. View Abstract
Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization. View Abstract
Identification and analysis of individuals who deviate from their genetically-predicted phenotype. View Abstract
Inferring compound heterozygosity from large-scale exome sequencing data. View Abstract
Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases. View Abstract
Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations. View Abstract
Author Correction: The power of genetic diversity in genome-wide association studies of lipids. View Abstract
Genetics of skeletal proportions in two different populations. View Abstract
Corrigendum: Genetic heritability as a tool to evaluate the precision of 24-hour recall dietary questionnaire variables in UK Biobank. View Abstract
Genome-wide CRISPR screening of chondrocyte maturation newly implicates genes in skeletal growth and height-associated GWAS loci. View Abstract
Identification and analysis of individuals who deviate from their genetically-predicted phenotype. View Abstract
Genetic heritability as a tool to evaluate the precision of 24-hour recall dietary questionnaire variables in UK Biobank. View Abstract
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. View Abstract
Epigenome-wide meta-analysis identifies DNA methylation biomarkers associated with diabetic kidney disease. View Abstract
A saturated map of common genetic variants associated with human height. View Abstract
Post-translational control of beige fat biogenesis by PRDM16 stabilization. View Abstract
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. View Abstract
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms. View Abstract
Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease. View Abstract
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder. View Abstract
Evidence From Men for Ovary-independent Effects of Genetic Risk Factors for Polycystic Ovary Syndrome. View Abstract
Correction: The american pediatric society and society for pediatric research joint statement against racism and social injustice. View Abstract
The power of genetic diversity in genome-wide association studies of lipids. View Abstract
Growth Hormone Stimulation Testing Patterns Contribute to Sex Differences in Pediatric Growth Hormone Treatment. View Abstract
Genes with specificity for expression in the round cell layer of the growth plate are enriched in genomewide association study (GWAS) of human height. View Abstract
Assessment of differentially methylated loci in individuals with end-stage kidney disease attributed to diabetic kidney disease: an exploratory study. View Abstract
Racial and Ethnic Disparities in the Investigation and Treatment of Growth Hormone Deficiency. View Abstract
Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. View Abstract
The comparative effect of exposure to various risk factors on the risk of hyperuricaemia: diet has a weak causal effect. View Abstract
Response to Letter to the Editor: "A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness". View Abstract
A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness. View Abstract
Genome-wide association study identifies 48 common genetic variants associated with handedness. View Abstract
Potential causal role of l-glutamine in sickle cell disease painful crises: A Mendelian randomization analysis. View Abstract
The american pediatric society and society for pediatric research joint statement against racism and social injustice. View Abstract
Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology. View Abstract
Integrating untargeted metabolomics, genetically informed causal inference, and pathway enrichment to define the obesity metabolome. View Abstract
Hepatic NADH reductive stress underlies common variation in metabolic traits. View Abstract
A positively selected FBN1 missense variant reduces height in Peruvian individuals. View Abstract
Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations. View Abstract
Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. View Abstract
Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels. View Abstract
Using metabolite profiling to construct and validate a metabolite risk score for predicting future weight gain. View Abstract
Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen. View Abstract
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. View Abstract
Blood Leukocyte DNA Methylation Predicts Risk of Future Myocardial Infarction and Coronary Heart Disease. View Abstract
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. View Abstract
Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity. View Abstract
The Consortium of Metabolomics Studies (COMETS): Metabolomics in 47 Prospective Cohort Studies. View Abstract
Benchmarker: An Unbiased, Association-Data-Driven Strategy to Evaluate Gene Prioritization Algorithms. View Abstract
Mendelian randomisation analyses find pulmonary factors mediate the effect of height on coronary artery disease. View Abstract
Mendelian randomisation analyses find pulmonary factors mediate the effect of height on coronary artery disease. View Abstract
Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies. View Abstract
Interrogation of human hematopoiesis at single-cell and single-variant resolution. View Abstract
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. View Abstract
PAIRUP-MS: Pathway analysis and imputation to relate unknowns in profiles from mass spectrometry-based metabolite data. View Abstract
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. View Abstract
Meta-analysis of genome-wide association studies for height and body mass index in ~700000 individuals of European ancestry. View Abstract
Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data. View Abstract
Insights and Implications of Genome-Wide Association Studies of Height. View Abstract
Disruption of the Igf2 gene alters hepatic lipid homeostasis and gene expression in the newborn mouse. View Abstract
GWAS for BMI: a treasure trove of fundamental insights into the genetic basis of obesity. View Abstract
Fluid Balance Is Associated with Clinical Outcomes and Extravascular Lung Water in Children with Acute Asthma Exacerbation. View Abstract
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. View Abstract
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. View Abstract
A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes. View Abstract
Measuring coverage and accuracy of whole-exome sequencing in clinical context. View Abstract
A CLK3-HMGA2 Alternative Splicing Axis Impacts Human Hematopoietic Stem Cell Molecular Identity throughout Development. View Abstract
Gene-Environment Interactions Associated with the Severity of Acute Asthma Exacerbation in Children. View Abstract
Genetic Evidence That Carbohydrate-Stimulated Insulin Secretion Leads to Obesity. View Abstract
Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks. View Abstract
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. View Abstract
Epigenetic profiling of growth plate chondrocytes sheds insight into regulatory genetic variation influencing height. View Abstract
Exome-wide association study of plasma lipids in >300,000 individuals. View Abstract
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. View Abstract
Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. View Abstract
Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. View Abstract
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. View Abstract
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. View Abstract
Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. View Abstract
Reply. View Abstract
Shared genetic variants suggest common pathways in allergy and autoimmune diseases. View Abstract
Rare and low-frequency coding variants alter human adult height. View Abstract
Variation in the clinical and genetic evaluation of undervirilized boys with bifid scrotum and hypospadias. View Abstract
A Conversation with Kurt and Rochelle Hirschhorn. View Abstract
Metabolomic profiles as reliable biomarkers of dietary composition. View Abstract
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms. View Abstract
Omalizumab Is Associated with Reduced Acute Severity of Rhinovirus-triggered Asthma Exacerbation. View Abstract
A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape. View Abstract
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. View Abstract
A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. View Abstract
52 Genetic Loci Influencing Myocardial Mass. View Abstract
The Genetic Landscape of Renal Complications in Type 1 Diabetes. View Abstract
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. View Abstract
Across-cohort QC analyses of GWAS summary statistics from complex traits. View Abstract
Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing. View Abstract
Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders. View Abstract
Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. View Abstract
Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. View Abstract
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. View Abstract
Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. View Abstract
Rhinovirus and serum IgE are associated with acute asthma exacerbation severity in children. View Abstract
Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank. View Abstract
Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram. View Abstract
Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels. View Abstract
Testing the role of predicted gene knockouts in human anthropometric trait variation. View Abstract
New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk. View Abstract
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. View Abstract
Comprehensive analysis of schizophrenia-associated loci highlights ion channel pathways and biologically plausible candidate causal genes. View Abstract
Impact of an Electronic Template on Documentation of Obesity in a Primary Care Clinic. View Abstract
Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. View Abstract
Small island, big genetic discoveries. View Abstract
Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells. View Abstract
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. View Abstract
De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. View Abstract
Gene-based meta-analysis of genome-wide association studies implicates new loci involved in obesity. View Abstract
Population genetic differentiation of height and body mass index across Europe. View Abstract
Genetic Evidence for a Causal Role of Obesity in Diabetic Kidney Disease. View Abstract
Directional dominance on stature and cognition in diverse human populations. View Abstract
Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity. View Abstract
Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development. View Abstract
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. View Abstract
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. View Abstract
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. View Abstract
Genetic studies of body mass index yield new insights for obesity biology. View Abstract
New genetic loci link adipose and insulin biology to body fat distribution. View Abstract
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. View Abstract
A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism. View Abstract
Biological interpretation of genome-wide association studies using predicted gene functions. View Abstract
Gene expression analysis identifies global gene dosage sensitivity in cancer. View Abstract
A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype. View Abstract
A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. View Abstract
SNPsnap: a Web-based tool for identification and annotation of matched SNPs. View Abstract
Defining the role of common variation in the genomic and biological architecture of adult human height. View Abstract
A novel common variant in DCST2 is associated with length in early life and height in adulthood. View Abstract
Genome-wide association analyses identify variants in developmental genes associated with hypospadias. View Abstract
Distribution and medical impact of loss-of-function variants in the Finnish founder population. View Abstract
Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index. View Abstract
Fast and accurate imputation of summary statistics enhances evidence of functional enrichment. View Abstract
Whole exome sequencing to identify genetic causes of short stature. View Abstract
Genetic evaluation of short stature. View Abstract
Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. View Abstract
Guidelines for investigating causality of sequence variants in human disease. View Abstract
Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland. View Abstract
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3. View Abstract
An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases. View Abstract
Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect. View Abstract
Increased burden of cardiovascular disease in carriers of APOL1 genetic variants. View Abstract
A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency. View Abstract
Mining the human phenome using allelic scores that index biological intermediates. View Abstract
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. View Abstract
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. View Abstract
Common variants associated with plasma triglycerides and risk for coronary artery disease. View Abstract
Discovery and refinement of loci associated with lipid levels. View Abstract
Chromosome 2q31.1 associates with ESRD in women with type 1 diabetes. View Abstract
Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. View Abstract
Meta-analysis of gene-level associations for rare variants based on single-variant statistics. View Abstract
Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity. View Abstract
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. View Abstract
Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature. View Abstract
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. View Abstract
Central precocious puberty caused by mutations in the imprinted gene MKRN3. View Abstract
The power of meta-analysis in genome-wide association studies. View Abstract
Replication and fine mapping of asthma-associated loci in individuals of African ancestry. View Abstract
Genome-wide association study of age at menarche in African-American women. View Abstract
A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. View Abstract
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. View Abstract
Association of adiposity genetic variants with menarche timing in 92,105 women of European descent. View Abstract
Improved ancestry inference using weights from external reference panels. View Abstract
Correction: Genome-Wide Association Studies of Asthma in Population-Based Cohorts Confirm Known and Suggested Loci and Identify an Additional Association near HLA. View Abstract
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. View Abstract
Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype. View Abstract
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. View Abstract
Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA. View Abstract
New susceptibility loci associated with kidney disease in type 1 diabetes. View Abstract
FTO genotype is associated with phenotypic variability of body mass index. View Abstract
Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder. View Abstract
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. View Abstract
Absence of functional LIN28B mutations in a large cohort of patients with idiopathic central precocious puberty. View Abstract
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. View Abstract
Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height. View Abstract
Evidence of widespread selection on standing variation in Europe at height-associated SNPs. View Abstract
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. View Abstract
Candidate genes for obesity-susceptibility show enriched association within a large genome-wide association study for BMI. View Abstract
Association testing of previously reported variants in a large case-control meta-analysis of diabetic nephropathy. View Abstract
Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms. View Abstract
A genome-wide association meta-analysis identifies new childhood obesity loci. View Abstract
Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. View Abstract
Gencrypt: one-way cryptographic hashes to detect overlapping individuals across samples. View Abstract
Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals. View Abstract
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations. View Abstract
Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. View Abstract
Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions. View Abstract
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. View Abstract
Genetic variants of TSLP and asthma in an admixed urban population. View Abstract
Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. View Abstract
Genome-wide comparison of African-ancestry populations from CARe and other cohorts reveals signals of natural selection. View Abstract
The landscape of recombination in African Americans. View Abstract
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. View Abstract
The history of African gene flow into Southern Europeans, Levantines, and Jews. View Abstract
Enhanced statistical tests for GWAS in admixed populations: assessment using African Americans from CARe and a Breast Cancer Consortium. View Abstract
Genome-wide association studies in pediatric endocrinology. View Abstract
The efficacy of detecting variants with small effects on the Affymetrix 6.0 platform using pooled DNA. View Abstract
Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium. View Abstract
Genomic inflation factors under polygenic inheritance. View Abstract
Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits. View Abstract
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. View Abstract
Genome-wide association studies: results from the first few years and potential implications for clinical medicine. View Abstract
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. View Abstract
Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. View Abstract
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. View Abstract
Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. View Abstract
Modifier genes in Mendelian disorders: the example of hemoglobin disorders. View Abstract
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. View Abstract
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. View Abstract
Interrogating local population structure for fine mapping in genome-wide association studies. View Abstract
Hundreds of variants clustered in genomic loci and biological pathways affect human height. View Abstract
Does a short breastfeeding period protect from FTO-induced adiposity in children? View Abstract
Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study. View Abstract
Association of common DNA sequence variants at 33 genetic loci with blood lipids in individuals of African ancestry from Jamaica. View Abstract
PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease. View Abstract
Fatty liver is associated with dyslipidemia and dysglycemia independent of visceral fat: the Framingham Heart Study. View Abstract
Lin28a transgenic mice manifest size and puberty phenotypes identified in human genetic association studies. View Abstract
An age-dependent diet-modified effect of the PPAR? Pro12Ala polymorphism in children. View Abstract
Fine mapping of the association with obesity at the FTO locus in African-derived populations. View Abstract
Candidate gene association resource (CARe): design, methods, and proof of concept. View Abstract
Genome-wide association of anthropometric traits in African- and African-derived populations. View Abstract
Distinct variants at LIN28B influence growth in height from birth to adulthood. View Abstract
Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. View Abstract
Rapid assessment of genetic ancestry in populations of unknown origin by genome-wide genotyping of pooled samples. View Abstract
Genetic determinants of pubertal timing in the general population. View Abstract
Inborn variation in metabolism. View Abstract
Meta-analysis of the INSIG2 association with obesity including 74,345 individuals: does heterogeneity of estimates relate to study design? View Abstract
CYP19A1 genetic variation in relation to prostate cancer risk and circulating sex hormone concentrations in men from the Breast and Prostate Cancer Cohort Consortium. View Abstract
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. View Abstract
NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. View Abstract
Common body mass index-associated variants confer risk of extreme obesity. View Abstract
Progress in genome-wide association studies of human height. View Abstract
Genomewide association studies--illuminating biologic pathways. View Abstract
Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure. View Abstract
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. View Abstract
What controls the timing of puberty? An update on progress from genetic investigation. View Abstract
Use of weighted reference panels based on empirical estimates of ancestry for capturing untyped variation. View Abstract
Peroxisome proliferator-activated receptor-gamma (PPARgamma) Pro12Ala polymorphism and risk for pediatric obesity. View Abstract
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. View Abstract
Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. View Abstract
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. View Abstract
Ultraconserved elements: analyses of dosage sensitivity, motifs and boundaries. View Abstract
Genome-wide association studies: past, present and future. View Abstract
Genome-wide association studies: potential next steps on a genetic journey. View Abstract
Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche. View Abstract
Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. View Abstract
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. View Abstract
Liver fat is reproducibly measured using computed tomography in the Framingham Heart Study. View Abstract
Common variants near MC4R are associated with fat mass, weight and risk of obesity. View Abstract
Genome-wide association studies for complex traits: consensus, uncertainty and challenges. View Abstract
Bona fide genetic associations with bone mineral density. View Abstract
Identification of ten loci associated with height highlights new biological pathways in human growth. View Abstract
On the replication of genetic associations: timing can be everything! View Abstract
Polymorphisms associated with cholesterol and risk of cardiovascular events. View Abstract
A survey of allelic imbalance in F1 mice. View Abstract
Comprehensive evaluation of ESR2 variation and ovarian cancer risk. View Abstract
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. View Abstract
Haplotypes of the estrogen receptor beta gene and breast cancer risk. View Abstract
Common variants in the GDF5-UQCC region are associated with variation in human height. View Abstract
The ENPP1 K121Q polymorphism is associated with type 2 diabetes in European populations: evidence from an updated meta-analysis in 42,042 subjects. View Abstract
Lactose and lactase--who is lactose intolerant and why? View Abstract
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. View Abstract
Discerning the ancestry of European Americans in genetic association studies. View Abstract
CYP17 genetic variation and risk of breast and prostate cancer from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). View Abstract
Sequence variants of estrogen receptor beta and risk of prostate cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium. View Abstract
A common variant of HMGA2 is associated with adult and childhood height in the general population. View Abstract
Common genetic variation in KCNH2 is associated with QT interval duration: the Framingham Heart Study. View Abstract
Replicating genotype-phenotype associations. View Abstract
Heritability, linkage, and genetic associations of exercise treadmill test responses. View Abstract
Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation. View Abstract
Genetic model testing and statistical power in population-based association studies of quantitative traits. View Abstract
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. View Abstract
Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetes. View Abstract
Vascular stiffness and genetic variation at the endothelial nitric oxide synthase locus: the Framingham Heart study. View Abstract
The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts. View Abstract
Investigation of the estrogen receptor-alpha gene with type 2 diabetes and/or nephropathy in African-American and European-American populations. View Abstract
Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. View Abstract
Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women. View Abstract
Association studies of BMI and type 2 diabetes in the neuropeptide Y pathway: a possible role for NPY2R as a candidate gene for type 2 diabetes in men. View Abstract
Clinical and genetic correlates of aldosterone-to-renin ratio and relations to blood pressure in a community sample. View Abstract
A systematic assessment of common genetic variation in CYP11A and risk of breast cancer. View Abstract
The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people. View Abstract
Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity. View Abstract
Transferability of tag SNPs in genetic association studies in multiple populations. View Abstract
Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals. View Abstract
Haplotype-based association studies of IGFBP1 and IGFBP3 with prostate and breast cancer risk: the multiethnic cohort. View Abstract
Phenotypic variation in constitutional delay of growth and puberty: relationship to specific leptin and leptin receptor gene polymorphisms. View Abstract
Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. View Abstract
Comprehensive association testing of common mitochondrial DNA variation in metabolic disease. View Abstract
Phenotype-genotype association grid: a convenient method for summarizing multiple association analyses. View Abstract
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. View Abstract
A common genetic variant is associated with adult and childhood obesity. View Abstract
Common genetic variation in five thrombosis genes and relations to plasma hemostatic protein level and cardiovascular disease risk. View Abstract
Contribution of clinical correlates and 13 C-reactive protein gene polymorphisms to interindividual variability in serum C-reactive protein level. View Abstract
Haplotype structures and large-scale association testing of the 5' AMP-activated protein kinase genes PRKAA2, PRKAB1, and PRKAB2 [corrected] with type 2 diabetes. View Abstract
Haplotype analysis of the HSD17B1 gene and risk of breast cancer: a comprehensive approach to multicenter analyses of prospective cohort studies. View Abstract
Common genetic variation in IGF1 and prostate cancer risk in the Multiethnic Cohort. View Abstract
Igf-I genetic variation and breast cancer: the multiethnic cohort. View Abstract
High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people. View Abstract
Conserved noncoding sequences are selectively constrained and not mutation cold spots. View Abstract
A candidate gene approach to searching for low-penetrance breast and prostate cancer genes. View Abstract
Genetic variation in the HSD17B1 gene and risk of prostate cancer. View Abstract
Comprehensive survey of common genetic variation at the plasminogen activator inhibitor-1 locus and relations to circulating plasminogen activator inhibitor-1 levels. View Abstract
Common genetic variation at the endothelial nitric oxide synthase locus and relations to brachial artery vasodilator function in the community. View Abstract
CCL2 polymorphisms are associated with serum monocyte chemoattractant protein-1 levels and myocardial infarction in the Framingham Heart Study. View Abstract
Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes. View Abstract
Demonstrating stratification in a European American population. View Abstract
Genetics of common forms of obesity: a brief overview. View Abstract
Genetic association studies of complex traits: design and analysis issues. View Abstract
Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people. View Abstract
Genetic approaches to studying common diseases and complex traits. View Abstract
MEF2A sequence variants and coronary artery disease: a change of heart? View Abstract
Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people. View Abstract
Genome-wide association studies for common diseases and complex traits. View Abstract
Genetic and genomic approaches to studying stature and pubertal timing. View Abstract
Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis. View Abstract
Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes. View Abstract
In genetic control of disease, does 'race' matter? View Abstract
Systematic evaluation of genetic variation at the androgen receptor locus and risk of prostate cancer in a multiethnic cohort study. View Abstract
Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: investigation of role in pubertal timing. View Abstract
Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort. View Abstract
Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. View Abstract
Genetic signatures of strong recent positive selection at the lactase gene. View Abstract
Maternal activating mutation of the calcium-sensing receptor: implications for calcium metabolism in the neonate. View Abstract
Assessing the impact of population stratification on genetic association studies. View Abstract
Genetic approaches to stature, pubertal timing, and other complex traits. View Abstract
A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort. View Abstract
PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. View Abstract
Genetic epidemiology of type 1 diabetes. View Abstract
Changing genes; losing lactase. View Abstract
Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. View Abstract
Choosing haplotype-tagging SNPS based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study. View Abstract
The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits. View Abstract
Modeling and E-M estimation of haplotype-specific relative risks from genotype data for a case-control study of unrelated individuals. View Abstract
Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns. View Abstract
Detection of regulatory variation in mouse genes. View Abstract
Once and again-issues surrounding replication in genetic association studies. View Abstract
5' flanking variants of resistin are associated with obesity. View Abstract
A comprehensive review of genetic association studies. View Abstract
Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. View Abstract
SBE-TAGS: an array-based method for efficient single-nucleotide polymorphism genotyping. View Abstract
The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. View Abstract
Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse. View Abstract
Upsetting the balance: VGF and the regulation of body weight. View Abstract
A new class of histone H2A mutations in Saccharomyces cerevisiae causes specific transcriptional defects in vivo. View Abstract
Evidence that SNF2/SWI2 and SNF5 activate transcription in yeast by altering chromatin structure. View Abstract
SPT3 is required for normal levels of a-factor and alpha-factor expression in Saccharomyces cerevisiae. View Abstract
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