Our laboratory's long-term goal is to understand the genetic basis of human height and weight, as well as other polygenic traits and diseases. Most common human diseases and quantitative phenotypes (such as height and weight) are polygenic traits, influenced by multiple genetic and environmental factors. Our goals are to identify genetic factors influencing height, weight, and other polygenic traits, and to use these genetic discoveries to uncover novel human biology relevant to obesity and growth. 

We are also interested in how our understanding of human population genetics can inform genetic association studies, and vice versa. We study body mass index and other anthropometric measures of obesity because these are heritable, readily measured polygenic risk factors for a number of serious diseases, including diabetes and cancer. We study height, a classic polygenic trait, because of its relevance to human growth and development, and because it is the classical model for human polygenic traits. 

 Our lab also has projects related to other diseases, such as asthma and diabetic kidney disease, and quantitative traits, such as hemoglobin F levels (which modify the severity of sickle cell disease). We also embark on computational projects related to polygenic traits and population genetics. Our lab collaborates with the Broad Institute in many of these areas. Recently, our main focus has been to use genome-wide association data at millions of variants across the genome to identify new loci associated with obesity and height. We have successfully identified many novel associations between common genetic variants and both height and obesity. 

We plan to search for additional loci and to characterize further the loci we have helped to discover using genetic, computational and functional approaches. We are using next-generation sequencing technology to more fully characterize the effects of common and rare variants at these loci. To read more about our work, visit our lab website. 


Joel Hirschhorn is the Concordia Professor of Pediatrics and a Professor of Genetics at Harvard Medical School and Children's Hospital, Boston, where he directs the Center for Basic and Translational Obesity Research. He is also a Senior Associate Member and co-Director of the Metabolism Initiative at the Broad Institute. 

He received his AB summa cum laude in Biochemistry from Harvard College and his MD and PhD in genetics from Harvard Medical School. He subsequently completed an internship and residency in pediatrics, and a fellowship in endocrinology at Children's Hospital Boston. As a postdoctoral fellow with Eric Lander at the Whitehead Institute/MIT Center for Genome Research, he developed and implemented tools and methods to perform and interpret genetic association studies including genotyping technologies and analytic methods. 

He started his own laboratory at Children's Hospital Boston in 2001. In 2011, Dr. Hirschhorn was awarded the American Pediatric Society’s Norman J. Siegel New Member Outstanding Science Award and the Society for Pediatrics Research E. Mead Johnson Award.


Publications powered by Harvard Catalyst Profiles

  1. Correction: The american pediatric society and society for pediatric research joint statement against racism and social injustice. Pediatr Res. 2021 Aug 13. View abstract
  2. Genes with specificity for expression in the round cell layer of the growth plate are enriched in genomewide association study (GWAS) of human height. J Bone Miner Res. 2021 Aug 03. View abstract
  3. Assessment of differentially methylated loci in individuals with end-stage kidney disease attributed to diabetic kidney disease: an exploratory study. Clin Epigenetics. 2021 05 01; 13(1):99. View abstract
  4. Racial and Ethnic Disparities in the Investigation and Treatment of Growth Hormone Deficiency. J Pediatr. 2021 Sep; 236:238-245. View abstract
  5. Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. Am J Hum Genet. 2021 04 01; 108(4):564-582. View abstract
  6. The comparative effect of exposure to various risk factors on the risk of hyperuricaemia: diet has a weak causal effect. Arthritis Res Ther. 2021 03 04; 23(1):75. View abstract
  7. Response to Letter to the Editor: "A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness". J Clin Endocrinol Metab. 2021 01 01; 106(1):e409-e410. View abstract
  8. A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness. J Clin Endocrinol Metab. 2020 10 01; 105(10). View abstract
  9. Genome-wide association study identifies 48 common genetic variants associated with handedness. Nat Hum Behav. 2021 01; 5(1):59-70. View abstract
  10. Potential causal role of l-glutamine in sickle cell disease painful crises: A Mendelian randomization analysis. Blood Cells Mol Dis. 2021 02; 86:102504. View abstract
  11. The american pediatric society and society for pediatric research joint statement against racism and social injustice. Pediatr Res. 2020 Sep 03. View abstract
  12. Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology. Hum Mol Genet. 2020 08 29; 29(15):2625-2636. View abstract
  13. Integrating untargeted metabolomics, genetically informed causal inference, and pathway enrichment to define the obesity metabolome. Int J Obes (Lond). 2020 07; 44(7):1596-1606. View abstract
  14. Hepatic NADH reductive stress underlies common variation in metabolic traits. Nature. 2020 07; 583(7814):122-126. View abstract
  15. A positively selected FBN1 missense variant reduces height in Peruvian individuals. Nature. 2020 06; 582(7811):234-239. View abstract
  16. Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations. Nat Commun. 2020 03 19; 11(1):1467. View abstract
  17. Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genet Med. 2020 Feb; 22(2):449. View abstract
  18. Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels. Horm Res Paediatr. 2019; 92(3):186-195. View abstract
  19. Using metabolite profiling to construct and validate a metabolite risk score for predicting future weight gain. PLoS One. 2019; 14(9):e0222445. View abstract
  20. Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen. J Am Soc Nephrol. 2019 10; 30(10):2000-2016. View abstract
  21. The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genet Med. 2020 02; 22(2):371-380. View abstract
  22. Blood Leukocyte DNA Methylation Predicts Risk of Future Myocardial Infarction and Coronary Heart Disease. Circulation. 2019 08 20; 140(8):645-657. View abstract
  23. Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity. J Clin Endocrinol Metab. 2019 07 01; 104(7):2961-2970. View abstract
  24. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nat Genet. 2019 Jul; 51(7):1191-1192. View abstract
  25. The Consortium of Metabolomics Studies (COMETS): Metabolomics in 47 Prospective Cohort Studies. Am J Epidemiol. 2019 06 01; 188(6):991-1012. View abstract
  26. Benchmarker: An Unbiased, Association-Data-Driven Strategy to Evaluate Gene Prioritization Algorithms. Am J Hum Genet. 2019 06 06; 104(6):1025-1039. View abstract
  27. Mendelian randomisation analyses find pulmonary factors mediate the effect of height on coronary artery disease. Commun Biol. 2019; 2:119. View abstract
  28. Mendelian randomisation analyses find pulmonary factors mediate the effect of height on coronary artery disease. Commun Biol. 2019 Mar 27; 2(1):119. View abstract
  29. Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies. Elife. 2019 03 21; 8. View abstract
  30. Interrogation of human hematopoiesis at single-cell and single-variant resolution. Nat Genet. 2019 04; 51(4):683-693. View abstract
  31. Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. Nat Genet. 2019 03; 51(3):452-469. View abstract
  32. PAIRUP-MS: Pathway analysis and imputation to relate unknowns in profiles from mass spectrometry-based metabolite data. PLoS Comput Biol. 2019 01; 15(1):e1006734. View abstract
  33. Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. Hum Mol Genet. 2019 01 01; 28(1):166-174. View abstract
  34. Meta-analysis of genome-wide association studies for height and body mass index in ~700000 individuals of European ancestry. Hum Mol Genet. 2018 10 15; 27(20):3641-3649. View abstract
  35. Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data. Am J Hum Genet. 2018 10 04; 103(4):522-534. View abstract
  36. Insights and Implications of Genome-Wide Association Studies of Height. J Clin Endocrinol Metab. 2018 09 01; 103(9):3155-3168. View abstract
  37. Disruption of the Igf2 gene alters hepatic lipid homeostasis and gene expression in the newborn mouse. Am J Physiol Endocrinol Metab. 2018 11 01; 315(5):E735-E744. View abstract
  38. GWAS for BMI: a treasure trove of fundamental insights into the genetic basis of obesity. Int J Obes (Lond). 2018 08; 42(8):1524-1531. View abstract
  39. Fluid Balance Is Associated with Clinical Outcomes and Extravascular Lung Water in Children with Acute Asthma Exacerbation. Am J Respir Crit Care Med. 2018 05 01; 197(9):1128-1135. View abstract
  40. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nat Genet. 2018 05; 50(5):765-766. View abstract
  41. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nat Genet. 2018 05; 50(5):766-767. View abstract
  42. A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes. Diabetes. 2018 07; 67(7):1414-1427. View abstract
  43. Measuring coverage and accuracy of whole-exome sequencing in clinical context. Genet Med. 2018 12; 20(12):1617-1626. View abstract
  44. A CLK3-HMGA2 Alternative Splicing Axis Impacts Human Hematopoietic Stem Cell Molecular Identity throughout Development. Cell Stem Cell. 2018 04 05; 22(4):575-588.e7. View abstract
  45. Gene-Environment Interactions Associated with the Severity of Acute Asthma Exacerbation in Children. Am J Respir Crit Care Med. 2018 03 01; 197(5):545-547. View abstract
  46. Genetic Evidence That Carbohydrate-Stimulated Insulin Secretion Leads to Obesity. Clin Chem. 2018 01; 64(1):192-200. View abstract
  47. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nat Genet. 2018 01; 50(1):26-41. View abstract
  48. Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks. Nat Genet. 2018 01; 50(1):42-53. View abstract
  49. Epigenetic profiling of growth plate chondrocytes sheds insight into regulatory genetic variation influencing height. Elife. 2017 12 05; 6. View abstract
  50. Exome-wide association study of plasma lipids in >300,000 individuals. Nat Genet. 2017 Dec; 49(12):1758-1766. View abstract
  51. CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. Nat Commun. 2017 09 29; 8(1):744. View abstract
  52. Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. PLoS Genet. 2017 Aug; 13(8):e1006972. View abstract
  53. Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. PLoS Genet. 2017 Apr; 13(4):e1006528. View abstract
  54. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. Nat Commun. 2017 04 26; 8:14977. View abstract
  55. 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. PLoS Genet. 2017 Apr; 13(4):e1006719. View abstract
  56. Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. J Clin Invest. 2017 May 01; 127(5):1798-1812. View abstract
  57. Reply. J Allergy Clin Immunol. 2017 05; 139(5):1717-1718. View abstract
  58. Shared genetic variants suggest common pathways in allergy and autoimmune diseases. J Allergy Clin Immunol. 2017 Sep; 140(3):771-781. View abstract
  59. Rare and low-frequency coding variants alter human adult height. Nature. 2017 02 09; 542(7640):186-190. View abstract
  60. Variation in the clinical and genetic evaluation of undervirilized boys with bifid scrotum and hypospadias. J Pediatr Urol. 2017 Jun; 13(3):293.e1-293.e6. View abstract
  61. A Conversation with Kurt and Rochelle Hirschhorn. Annu Rev Genomics Hum Genet. 2017 08 31; 18:31-44. View abstract
  62. Metabolomic profiles as reliable biomarkers of dietary composition. Am J Clin Nutr. 2017 03; 105(3):547-554. View abstract
  63. Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms. Proc Natl Acad Sci U S A. 2017 01 17; 114(3):E327-E336. View abstract
  64. Omalizumab Is Associated with Reduced Acute Severity of Rhinovirus-triggered Asthma Exacerbation. Am J Respir Crit Care Med. 2016 12 15; 194(12):1552-1555. View abstract
  65. A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape. Nat Commun. 2016 11 23; 7:13357. View abstract
  66. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nat Genet. 2017 01; 49(1):27-35. View abstract
  67. A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. Horm Res Paediatr. 2017; 87(3):191-195. View abstract
  68. 52 Genetic Loci Influencing Myocardial Mass. J Am Coll Cardiol. 2016 09 27; 68(13):1435-1448. View abstract
  69. The Genetic Landscape of Renal Complications in Type 1 Diabetes. J Am Soc Nephrol. 2017 02; 28(2):557-574. View abstract
  70. The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. Nat Genet. 2016 10; 48(10):1171-1184. View abstract
  71. Across-cohort QC analyses of GWAS summary statistics from complex traits. Eur J Hum Genet. 2016 01; 25(1):137-146. View abstract
  72. Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing. Horm Res Paediatr. 2017; 87(4):264-270. View abstract
  73. Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders. Am J Hum Genet. 2016 09 01; 99(3):527-539. View abstract
  74. Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. PLoS Genet. 2016 06; 12(6):e1006166. View abstract
  75. Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. Am J Hum Genet. 2016 Jul 07; 99(1):8-21. View abstract
  76. Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. Am J Hum Genet. 2016 Jul 07; 99(1):40-55. View abstract
  77. Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. Am J Hum Genet. 2016 Jul 07; 99(1):22-39. View abstract
  78. Rhinovirus and serum IgE are associated with acute asthma exacerbation severity in children. J Allergy Clin Immunol. 2016 11; 138(5):1467-1471.e9. View abstract
  79. Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank. BMJ. 2016 Mar 08; 352:i582. View abstract
  80. Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram. Hum Mol Genet. 2016 05 15; 25(10):2093-2103. View abstract
  81. Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels. Nat Genet. 2016 Apr; 48(4):359-66. View abstract
  82. Testing the role of predicted gene knockouts in human anthropometric trait variation. Hum Mol Genet. 2016 05 15; 25(10):2082-2092. View abstract
  83. New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk. Nat Commun. 2016 Feb 01; 7:10495. View abstract
  84. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. Nat Commun. 2016 Jan 21; 7:10023. View abstract
  85. Comprehensive analysis of schizophrenia-associated loci highlights ion channel pathways and biologically plausible candidate causal genes. Hum Mol Genet. 2016 Mar 15; 25(6):1247-54. View abstract
  86. Impact of an Electronic Template on Documentation of Obesity in a Primary Care Clinic. Clin Pediatr (Phila). 2016 Oct; 55(12):1152-9. View abstract
  87. Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. Hum Mol Genet. 2016 Jan 15; 25(2):389-403. View abstract
  88. Small island, big genetic discoveries. Nat Genet. 2015 Nov; 47(11):1224-5. View abstract
  89. Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells. Cell Stem Cell. 2016 Jan 07; 18(1):73-78. View abstract
  90. The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. PLoS Genet. 2015 Oct; 11(10):e1005378. View abstract
  91. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. BMC Genomics. 2015 Sep 16; 16:701. View abstract
  92. Gene-based meta-analysis of genome-wide association studies implicates new loci involved in obesity. Hum Mol Genet. 2015 Dec 01; 24(23):6849-60. View abstract
  93. Population genetic differentiation of height and body mass index across Europe. Nat Genet. 2015 Nov; 47(11):1357-62. View abstract
  94. Genetic Evidence for a Causal Role of Obesity in Diabetic Kidney Disease. Diabetes. 2015 Dec; 64(12):4238-46. View abstract
  95. Directional dominance on stature and cognition in diverse human populations. Nature. 2015 Jul 23; 523(7561):459-462. View abstract
  96. Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity. Nat Genet. 2015 Aug; 47(8):921-5. View abstract
  97. Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development. Am J Hum Genet. 2015 May 07; 96(5):695-708. View abstract
  98. 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. Hum Mol Genet. 2015 Jun 15; 24(12):3582-94. View abstract
  99. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab. 2015 May; 100(5):1723-30. View abstract
  100. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. Hum Mutat. 2015 Apr; 36(4):474-81. View abstract
  101. New genetic loci link adipose and insulin biology to body fat distribution. Nature. 2015 Feb 12; 518(7538):187-196. View abstract
  102. Genetic studies of body mass index yield new insights for obesity biology. Nature. 2015 Feb 12; 518(7538):197-206. View abstract
  103. 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. J Pediatr Gastroenterol Nutr. 2015 Feb; 60(2):182-91. View abstract
  104. A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 Apr; 100(4):E646-54. View abstract
  105. Biological interpretation of genome-wide association studies using predicted gene functions. Nat Commun. 2015 Jan 19; 6:5890. View abstract
  106. Gene expression analysis identifies global gene dosage sensitivity in cancer. Nat Genet. 2015 Feb; 47(2):115-25. View abstract
  107. A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype. Horm Res Paediatr. 2014; 82(5):344-52. View abstract
  108. A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. Am J Hum Genet. 2014 Nov 06; 95(5):509-20. View abstract
  109. SNPsnap: a Web-based tool for identification and annotation of matched SNPs. Bioinformatics. 2015 Feb 01; 31(3):418-20. View abstract
  110. Defining the role of common variation in the genomic and biological architecture of adult human height. Nat Genet. 2014 Nov; 46(11):1173-86. View abstract
  111. A novel common variant in DCST2 is associated with length in early life and height in adulthood. Hum Mol Genet. 2015 Feb 15; 24(4):1155-68. View abstract
  112. Genome-wide association analyses identify variants in developmental genes associated with hypospadias. Nat Genet. 2014 Sep; 46(9):957-63. View abstract
  113. Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index. PLoS Genet. 2014 Jul; 10(7):e1004508. View abstract
  114. Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet. 2014 Jul; 10(7):e1004494. View abstract
  115. Fast and accurate imputation of summary statistics enhances evidence of functional enrichment. Bioinformatics. 2014 Oct 15; 30(20):2906-14. View abstract
  116. Whole exome sequencing to identify genetic causes of short stature. Horm Res Paediatr. 2014; 82(1):44-52. View abstract
  117. Genetic evaluation of short stature. J Clin Endocrinol Metab. 2014 Sep; 99(9):3080-92. View abstract
  118. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014 Apr 24; 508(7497):469-76. View abstract
  119. Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland. Am J Hum Genet. 2014 May 01; 94(5):710-20. View abstract
  120. Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. J Clin Endocrinol Metab. 2014 Aug; 99(8):E1510-8. View abstract
  121. Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3. J Clin Endocrinol Metab. 2014 Jun; 99(6):E1097-103. View abstract
  122. An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases. Am J Hum Genet. 2014 Mar 06; 94(3):437-52. View abstract
  123. Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect. Hum Mol Genet. 2014 Jun 01; 23(11):2880-7. View abstract
  124. Increased burden of cardiovascular disease in carriers of APOL1 genetic variants. Circ Res. 2014 Feb 28; 114(5):845-50. View abstract
  125. A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency. J Clin Endocrinol Metab. 2014 Jan; 99(1):E153-9. View abstract
  126. Mining the human phenome using allelic scores that index biological intermediates. PLoS Genet. 2013 Oct; 9(10):e1003919. View abstract
  127. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. Am J Hum Genet. 2013 Nov 07; 93(5):798-811. View abstract
  128. Discovery and refinement of loci associated with lipid levels. Nat Genet. 2013 Nov; 45(11):1274-1283. View abstract
  129. Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nat Genet. 2013 Nov; 45(11):1380-5. View abstract
  130. Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet. 2013 Nov; 45(11):1345-52. View abstract
  131. Chromosome 2q31.1 associates with ESRD in women with type 1 diabetes. J Am Soc Nephrol. 2013 Oct; 24(10):1537-43. View abstract
  132. Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. . 2013 Oct; 161A(10):2519-27. View abstract
  133. Meta-analysis of gene-level associations for rare variants based on single-variant statistics. Am J Hum Genet. 2013 Aug 08; 93(2):236-48. View abstract
  134. Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity. Science. 2013 Jul 19; 341(6143):275-8. View abstract
  135. Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. Nat Genet. 2013 Aug; 45(8):902-906. View abstract
  136. Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature. J Clin Endocrinol Metab. 2013 Aug; 98(8):E1428-37. View abstract
  137. Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet. 2013 Jun; 9(6):e1003500. View abstract
  138. Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med. 2013 Jun 27; 368(26):2467-75. View abstract
  139. The power of meta-analysis in genome-wide association studies. Annu Rev Genomics Hum Genet. 2013; 14:441-65. View abstract
  140. Replication and fine mapping of asthma-associated loci in individuals of African ancestry. Hum Genet. 2013 Sep; 132(9):1039-47. View abstract
  141. Genome-wide association study of age at menarche in African-American women. Hum Mol Genet. 2013 Aug 15; 22(16):3329-46. View abstract
  142. A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. Nat Genet. 2013 Jun; 45(6):690-6. View abstract
  143. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet. 2013 May; 45(5):501-12. View abstract
  144. Association of adiposity genetic variants with menarche timing in 92,105 women of European descent. Am J Epidemiol. 2013 Aug 01; 178(3):451-60. View abstract
  145. Improved ancestry inference using weights from external reference panels. Bioinformatics. 2013 Jun 01; 29(11):1399-406. View abstract
  146. Correction: Genome-Wide Association Studies of Asthma in Population-Based Cohorts Confirm Known and Suggested Loci and Identify an Additional Association near HLA. PLoS One. 2013; 8(3). View abstract
  147. 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. Clin Gastroenterol Hepatol. 2013 Sep; 11(9):1183-1190.e2. View abstract
  148. Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype. Clin Genet. 2013 Sep; 84(3):213-22. View abstract
  149. New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nat Genet. 2013 Jan; 45(1):76-82. View abstract
  150. Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA. PLoS One. 2012; 7(9):e44008. View abstract
  151. New susceptibility loci associated with kidney disease in type 1 diabetes. PLoS Genet. 2012 Sep; 8(9):e1002921. View abstract
  152. FTO genotype is associated with phenotypic variability of body mass index. Nature. 2012 Oct 11; 490(7419):267-72. View abstract
  153. Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder. J Pediatr. 2013 Jan; 162(1):202-4.e1. View abstract
  154. Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. Am J Hum Genet. 2012 Sep 07; 91(3):513-9. View abstract
  155. Absence of functional LIN28B mutations in a large cohort of patients with idiopathic central precocious puberty. Horm Res Paediatr. 2012; 78(3):144-50. View abstract
  156. Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. J Clin Endocrinol Metab. 2012 Nov; 97(11):E2140-51. View abstract
  157. Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height. Hum Mol Genet. 2012 Dec 01; 21(23):5193-201. View abstract
  158. Evidence of widespread selection on standing variation in Europe at height-associated SNPs. Nat Genet. 2012 Sep; 44(9):1015-9. View abstract
  159. The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet. 2012; 8(8):e1002793. View abstract
  160. Candidate genes for obesity-susceptibility show enriched association within a large genome-wide association study for BMI. Hum Mol Genet. 2012 Oct 15; 21(20):4537-42. View abstract
  161. Association testing of previously reported variants in a large case-control meta-analysis of diabetic nephropathy. Diabetes. 2012 Aug; 61(8):2187-94. View abstract
  162. Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms. Genetics. 2012 Sep; 192(1):253-66. View abstract
  163. A genome-wide association meta-analysis identifies new childhood obesity loci. Nat Genet. 2012 May; 44(5):526-31. View abstract
  164. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat Genet. 2012 Mar 18; 44(4):369-75, S1-3. View abstract
  165. Gencrypt: one-way cryptographic hashes to detect overlapping individuals across samples. Bioinformatics. 2012 Mar 15; 28(6):886-8. View abstract
  166. Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals. PLoS Genet. 2011 Dec; 7(12):e1002439. View abstract
  167. 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations. Eur J Hum Genet. 2012 May; 20(5):534-9. View abstract
  168. Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions. Am J Hum Genet. 2011 Dec 09; 89(6):751-9. View abstract
  169. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. J Clin Endocrinol Metab. 2012 Feb; 97(2):E268-74. View abstract
  170. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. PLoS Genet. 2011 Oct; 7(10):e1002298. View abstract
  171. Genetic variants of TSLP and asthma in an admixed urban population. PLoS One. 2011; 6(9):e25099. View abstract
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