Current Environment: Production

Medical Services

Specialties

Programs & 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

  1. Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism. J Clin Endocrinol Metab. 2024 Dec 18; 110(1):e61-e67. View Abstract

  2. Associations between phenotypes of childhood and adolescent obesity and incident hypertension in young adulthood. Int J Obes (Lond). 2024 Dec 16. View Abstract

  3. Blood methylation biomarkers are associated with diabetic kidney disease progression in type 1 diabetes. medRxiv. 2024 Nov 29. View Abstract

  4. Functional genomics of human skeletal development and the patterning of height heritability. Cell. 2025 Jan 09; 188(1):15-32.e24. View Abstract

  5. A Novel Role for FERM Domain-Containing Protein 3 in CKD. Kidney360. 2024 Dec 01; 5(12):1799-1812. View Abstract

  6. Non-canonical Wnt signaling triggered by WNT2B drives adrenal aldosterone production. bioRxiv. 2024 Aug 24. View Abstract

  7. An integrative framework to prioritize genes in more than 500 loci associated with body mass index. Am J Hum Genet. 2024 06 06; 111(6):1035-1046. View Abstract

  8. Associations Between Phenotypes of Childhood and Adolescent Obesity and Incident Hypertension in Young Adulthood. Res Sq. 2024 Mar 21. View Abstract

  9. Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nat Med. 2024 Feb; 30(2):480-487. View Abstract

  10. Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome. J Clin Endocrinol Metab. 2024 Jan 18; 109(2):380-388. View Abstract

  11. Inferring compound heterozygosity from large-scale exome sequencing data. Nat Genet. 2024 Jan; 56(1):152-161. View Abstract

  12. Phenotyping children and adolescents with obesity using behavioral, psychological, and familial data. Obesity (Silver Spring). 2023 12; 31(12):3016-3024. View Abstract

  13. Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty. J Clin Endocrinol Metab. 2023 11 17; 108(12):e1580-e1587. View Abstract

  14. Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization. Wellcome Open Res. 2023; 8:483. View Abstract

  15. Identification and analysis of individuals who deviate from their genetically-predicted phenotype. PLoS Genet. 2023 09; 19(9):e1010934. View Abstract

  16. Inferring compound heterozygosity from large-scale exome sequencing data. bioRxiv. 2023 Aug 21. View Abstract

  17. Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases. Nat Genet. 2023 08; 55(8):1267-1276. View Abstract

  18. Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations. medRxiv. 2023 Jun 05. View Abstract

  19. Author Correction: The power of genetic diversity in genome-wide association studies of lipids. Nature. 2023 Jun; 618(7965):E19-E20. View Abstract

  20. Genetics of skeletal proportions in two different populations. bioRxiv. 2023 May 30. View Abstract

  21. Corrigendum: Genetic heritability as a tool to evaluate the precision of 24-hour recall dietary questionnaire variables in UK Biobank. Front Genet. 2023; 14:1202158. View Abstract

  22. Genome-wide CRISPR screening of chondrocyte maturation newly implicates genes in skeletal growth and height-associated GWAS loci. Cell Genom. 2023 May 10; 3(5):100299. View Abstract

  23. Identification and analysis of individuals who deviate from their genetically-predicted phenotype. bioRxiv. 2023 Feb 10. View Abstract

  24. Genetic heritability as a tool to evaluate the precision of 24-hour recall dietary questionnaire variables in UK Biobank. Front Genet. 2022; 13:1070511. View Abstract

  25. Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. Genome Biol. 2022 12 27; 23(1):268. View Abstract

  26. Epigenome-wide meta-analysis identifies DNA methylation biomarkers associated with diabetic kidney disease. Nat Commun. 2022 12 22; 13(1):7891. View Abstract

  27. A saturated map of common genetic variants associated with human height. Nature. 2022 10; 610(7933):704-712. View Abstract

  28. Post-translational control of beige fat biogenesis by PRDM16 stabilization. Nature. 2022 09; 609(7925):151-158. View Abstract

  29. A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. Am J Hum Genet. 2022 08 04; 109(8):1366-1387. View Abstract

  30. Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms. J Med Genet. 2022 12; 59(12):1171-1178. View Abstract

  31. Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease. Diabetologia. 2022 09; 65(9):1495-1509. View Abstract

  32. Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder. Nat Commun. 2022 06 10; 13(1):3243. View Abstract

  33. Evidence From Men for Ovary-independent Effects of Genetic Risk Factors for Polycystic Ovary Syndrome. J Clin Endocrinol Metab. 2022 03 24; 107(4):e1577-e1587. View Abstract

  34. Correction: The american pediatric society and society for pediatric research joint statement against racism and social injustice. Pediatr Res. 2022 Jan; 91(1):264. View Abstract

  35. The power of genetic diversity in genome-wide association studies of lipids. Nature. 2021 12; 600(7890):675-679. View Abstract

  36. Growth Hormone Stimulation Testing Patterns Contribute to Sex Differences in Pediatric Growth Hormone Treatment. Horm Res Paediatr. 2021; 94(9-10):353-363. View Abstract

  37. 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 12; 36(12):2300-2308. View Abstract

  38. 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

  39. Racial and Ethnic Disparities in the Investigation and Treatment of Growth Hormone Deficiency. J Pediatr. 2021 Sep; 236:238-245. View Abstract

  40. 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

  41. 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

  42. 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

  43. A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness. J Clin Endocrinol Metab. 2020 10 01; 105(10). View Abstract

  44. Genome-wide association study identifies 48 common genetic variants associated with handedness. Nat Hum Behav. 2021 01; 5(1):59-70. View Abstract

  45. 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

  46. The american pediatric society and society for pediatric research joint statement against racism and social injustice. Pediatr Res. 2022 01; 91(1):72. View Abstract

  47. 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

  48. 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

  49. Hepatic NADH reductive stress underlies common variation in metabolic traits. Nature. 2020 07; 583(7814):122-126. View Abstract

  50. A positively selected FBN1 missense variant reduces height in Peruvian individuals. Nature. 2020 06; 582(7811):234-239. View Abstract

  51. Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations. Nat Commun. 2020 03 19; 11(1):1467. View Abstract

  52. Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genet Med. 2020 Feb; 22(2):449. View Abstract

  53. 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

  54. Using metabolite profiling to construct and validate a metabolite risk score for predicting future weight gain. PLoS One. 2019; 14(9):e0222445. View Abstract

  55. 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

  56. The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genet Med. 2020 02; 22(2):371-380. View Abstract

  57. Blood Leukocyte DNA Methylation Predicts Risk of Future Myocardial Infarction and Coronary Heart Disease. Circulation. 2019 08 20; 140(8):645-657. View Abstract

  58. 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

  59. 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

  60. The Consortium of Metabolomics Studies (COMETS): Metabolomics in 47 Prospective Cohort Studies. Am J Epidemiol. 2019 06 01; 188(6):991-1012. View Abstract

  61. 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

  62. Mendelian randomisation analyses find pulmonary factors mediate the effect of height on coronary artery disease. Commun Biol. 2019; 2:119. View Abstract

  63. 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

  64. Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies. Elife. 2019 03 21; 8. View Abstract

  65. Interrogation of human hematopoiesis at single-cell and single-variant resolution. Nat Genet. 2019 04; 51(4):683-693. View Abstract

  66. 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

  67. 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

  68. 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

  69. 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

  70. 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

  71. Insights and Implications of Genome-Wide Association Studies of Height. J Clin Endocrinol Metab. 2018 09 01; 103(9):3155-3168. View Abstract

  72. 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

  73. 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

  74. 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

  75. 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

  76. 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

  77. A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes. Diabetes. 2018 07; 67(7):1414-1427. View Abstract

  78. Measuring coverage and accuracy of whole-exome sequencing in clinical context. Genet Med. 2018 12; 20(12):1617-1626. View Abstract

  79. 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

  80. 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

  81. Genetic Evidence That Carbohydrate-Stimulated Insulin Secretion Leads to Obesity. Clin Chem. 2018 01; 64(1):192-200. View Abstract

  82. 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

  83. 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

  84. Epigenetic profiling of growth plate chondrocytes sheds insight into regulatory genetic variation influencing height. Elife. 2017 12 05; 6. View Abstract

  85. Exome-wide association study of plasma lipids in >300,000 individuals. Nat Genet. 2017 Dec; 49(12):1758-1766. View Abstract

  86. 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

  87. Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. PLoS Genet. 2017 Aug; 13(8):e1006972. View Abstract

  88. Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. PLoS Genet. 2017 Apr; 13(4):e1006528. View Abstract

  89. 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

  90. 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

  91. 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

  92. Reply. J Allergy Clin Immunol. 2017 05; 139(5):1717-1718. View Abstract

  93. Shared genetic variants suggest common pathways in allergy and autoimmune diseases. J Allergy Clin Immunol. 2017 Sep; 140(3):771-781. View Abstract

  94. Rare and low-frequency coding variants alter human adult height. Nature. 2017 02 09; 542(7640):186-190. View Abstract

  95. 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

  96. A Conversation with Kurt and Rochelle Hirschhorn. Annu Rev Genomics Hum Genet. 2017 08 31; 18:31-44. View Abstract

  97. Metabolomic profiles as reliable biomarkers of dietary composition. Am J Clin Nutr. 2017 03; 105(3):547-554. View Abstract

  98. 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

  99. 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

  100. A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape. Nat Commun. 2016 11 23; 7:13357. View Abstract

  101. 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

  102. 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

  103. 52 Genetic Loci Influencing Myocardial Mass. J Am Coll Cardiol. 2016 09 27; 68(13):1435-1448. View Abstract

  104. The Genetic Landscape of Renal Complications in Type 1 Diabetes. J Am Soc Nephrol. 2017 02; 28(2):557-574. View Abstract

  105. 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

  106. Across-cohort QC analyses of GWAS summary statistics from complex traits. Eur J Hum Genet. 2016 01; 25(1):137-146. View Abstract

  107. 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

  108. Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders. Am J Hum Genet. 2016 09 01; 99(3):527-539. View Abstract

  109. 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

  110. 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

  111. Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. Am J Hum Genet. 2016 Jul 07; 99(1):8-21. View Abstract

  112. 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

  113. 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

  114. Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank. BMJ. 2016 Mar 08; 352:i582. View Abstract

  115. 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

  116. Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels. Nat Genet. 2016 Apr; 48(4):359-66. View Abstract

  117. Testing the role of predicted gene knockouts in human anthropometric trait variation. Hum Mol Genet. 2016 05 15; 25(10):2082-2092. View Abstract

  118. New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk. Nat Commun. 2016 Feb 01; 7:10495. View Abstract

  119. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. Nat Commun. 2016 Jan 21; 7:10023. View Abstract

  120. 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

  121. 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

  122. 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

  123. Small island, big genetic discoveries. Nat Genet. 2015 Nov; 47(11):1224-5. View Abstract

  124. 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

  125. 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

  126. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. BMC Genomics. 2015 Sep 16; 16:701. View Abstract

  127. 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

  128. Population genetic differentiation of height and body mass index across Europe. Nat Genet. 2015 Nov; 47(11):1357-62. View Abstract

  129. Genetic Evidence for a Causal Role of Obesity in Diabetic Kidney Disease. Diabetes. 2015 Dec; 64(12):4238-46. View Abstract

  130. Directional dominance on stature and cognition in diverse human populations. Nature. 2015 Jul 23; 523(7561):459-462. View Abstract

  131. 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

  132. 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

  133. 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

  134. 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

  135. 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

  136. Genetic studies of body mass index yield new insights for obesity biology. Nature. 2015 Feb 12; 518(7538):197-206. View Abstract

  137. New genetic loci link adipose and insulin biology to body fat distribution. Nature. 2015 Feb 12; 518(7538):187-196. View Abstract

  138. 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

  139. 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

  140. Biological interpretation of genome-wide association studies using predicted gene functions. Nat Commun. 2015 Jan 19; 6:5890. View Abstract

  141. Gene expression analysis identifies global gene dosage sensitivity in cancer. Nat Genet. 2015 Feb; 47(2):115-25. View Abstract

  142. A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype. Horm Res Paediatr. 2014; 82(5):344-52. View Abstract

  143. 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

  144. SNPsnap: a Web-based tool for identification and annotation of matched SNPs. Bioinformatics. 2015 Feb 01; 31(3):418-20. View Abstract

  145. 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

  146. 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

  147. Genome-wide association analyses identify variants in developmental genes associated with hypospadias. Nat Genet. 2014 Sep; 46(9):957-63. View Abstract

  148. Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet. 2014 Jul; 10(7):e1004494. View Abstract

  149. 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

  150. Fast and accurate imputation of summary statistics enhances evidence of functional enrichment. Bioinformatics. 2014 Oct 15; 30(20):2906-14. View Abstract

  151. Whole exome sequencing to identify genetic causes of short stature. Horm Res Paediatr. 2014; 82(1):44-52. View Abstract

  152. Genetic evaluation of short stature. J Clin Endocrinol Metab. 2014 Sep; 99(9):3080-92. View Abstract

  153. 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

  154. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014 Apr 24; 508(7497):469-76. View Abstract

  155. 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

  156. 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

  157. 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

  158. 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

  159. Increased burden of cardiovascular disease in carriers of APOL1 genetic variants. Circ Res. 2014 Feb 28; 114(5):845-50. View Abstract

  160. 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

  161. Mining the human phenome using allelic scores that index biological intermediates. PLoS Genet. 2013 Oct; 9(10):e1003919. View Abstract

  162. 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

  163. 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

  164. Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet. 2013 Nov; 45(11):1345-52. View Abstract

  165. Discovery and refinement of loci associated with lipid levels. Nat Genet. 2013 Nov; 45(11):1274-1283. View Abstract

  166. Chromosome 2q31.1 associates with ESRD in women with type 1 diabetes. J Am Soc Nephrol. 2013 Oct; 24(10):1537-43. View Abstract

  167. Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. Am J Med Genet A. 2013 Oct; 161A(10):2519-27. View Abstract

  168. 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

  169. 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

  170. Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. Nat Genet. 2013 Aug; 45(8):902-906. View Abstract

  171. 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

  172. 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

  173. Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med. 2013 Jun 27; 368(26):2467-75. View Abstract

  174. The power of meta-analysis in genome-wide association studies. Annu Rev Genomics Hum Genet. 2013; 14:441-65. View Abstract

  175. Replication and fine mapping of asthma-associated loci in individuals of African ancestry. Hum Genet. 2013 Sep; 132(9):1039-47. View Abstract

  176. Genome-wide association study of age at menarche in African-American women. Hum Mol Genet. 2013 Aug 15; 22(16):3329-46. View Abstract

  177. 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

  178. 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

  179. 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

  180. Improved ancestry inference using weights from external reference panels. Bioinformatics. 2013 Jun 01; 29(11):1399-406. View Abstract

  181. 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

  182. 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

  183. 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

  184. 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

  185. 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

  186. New susceptibility loci associated with kidney disease in type 1 diabetes. PLoS Genet. 2012 Sep; 8(9):e1002921. View Abstract

  187. FTO genotype is associated with phenotypic variability of body mass index. Nature. 2012 Oct 11; 490(7419):267-72. View Abstract

  188. 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

  189. 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

  190. 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

  191. 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

  192. 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

  193. Evidence of widespread selection on standing variation in Europe at height-associated SNPs. Nat Genet. 2012 Sep; 44(9):1015-9. View Abstract

  194. The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet. 2012; 8(8):e1002793. View Abstract

  195. 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

  196. 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

  197. 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

  198. A genome-wide association meta-analysis identifies new childhood obesity loci. Nat Genet. 2012 May; 44(5):526-31. View Abstract

  199. 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

  200. Gencrypt: one-way cryptographic hashes to detect overlapping individuals across samples. Bioinformatics. 2012 Mar 15; 28(6):886-8. View Abstract

  201. 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

  202. 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

  203. 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

  204. 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

  205. 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

  206. Genetic variants of TSLP and asthma in an admixed urban population. PLoS One. 2011; 6(9):e25099. View Abstract

  207. Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. Lancet. 2011 Sep 10; 378(9795):1006-14. View Abstract

  208. Genome-wide comparison of African-ancestry populations from CARe and other cohorts reveals signals of natural selection. Am J Hum Genet. 2011 Sep 09; 89(3):368-81. View Abstract

  209. The landscape of recombination in African Americans. Nature. 2011 Jul 20; 476(7359):170-5. View Abstract

  210. Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nat Genet. 2011 Jun 26; 43(8):753-60. View Abstract

  211. The history of African gene flow into Southern Europeans, Levantines, and Jews. PLoS Genet. 2011 Apr; 7(4):e1001373. View Abstract

  212. Enhanced statistical tests for GWAS in admixed populations: assessment using African Americans from CARe and a Breast Cancer Consortium. PLoS Genet. 2011 Apr; 7(4):e1001371. View Abstract

  213. Genome-wide association studies in pediatric endocrinology. Horm Res Paediatr. 2011; 75(5):322-8. View Abstract

  214. The efficacy of detecting variants with small effects on the Affymetrix 6.0 platform using pooled DNA. Hum Genet. 2011 Nov; 130(5):607-21. View Abstract

  215. Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium. Hum Mol Genet. 2011 Jun 01; 20(11):2285-95. View Abstract

  216. Genomic inflation factors under polygenic inheritance. Eur J Hum Genet. 2011 Jul; 19(7):807-12. View Abstract

  217. Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits. PLoS Genet. 2011 Mar; 7(3):e1001324. View Abstract

  218. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. PLoS Genet. 2011 Feb 10; 7(2):e1001300. View Abstract

  219. Genome-wide association studies: results from the first few years and potential implications for clinical medicine. Annu Rev Med. 2011; 62:11-24. View Abstract

  220. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. Am J Hum Genet. 2011 Jan 07; 88(1):6-18. View Abstract

  221. Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nat Genet. 2010 Dec; 42(12):1049-51. View Abstract

  222. Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. J Am Coll Cardiol. 2010 Nov 02; 56(19):1552-63. View Abstract

  223. Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. Pediatrics. 2010 Dec; 126(6):e1594-8. View Abstract

  224. Modifier genes in Mendelian disorders: the example of hemoglobin disorders. Ann N Y Acad Sci. 2010 Dec; 1214:47-56. View Abstract

  225. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet. 2010 Nov; 42(11):949-60. View Abstract

  226. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet. 2010 Nov; 42(11):937-48. View Abstract

  227. Interrogating local population structure for fine mapping in genome-wide association studies. Bioinformatics. 2010 Dec 01; 26(23):2961-8. View Abstract

  228. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature. 2010 Oct 14; 467(7317):832-8. View Abstract

  229. Does a short breastfeeding period protect from FTO-induced adiposity in children? Int J Pediatr Obes. 2011 Jun; 6(2-2):e326-35. View Abstract

  230. Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study. Ann Hum Genet. 2010 Nov; 74(6):489-97. View Abstract

  231. Association of common DNA sequence variants at 33 genetic loci with blood lipids in individuals of African ancestry from Jamaica. Hum Genet. 2010 Nov; 128(5):557-61. View Abstract

  232. PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease. Hepatology. 2010 Sep; 52(3):904-12. View Abstract

  233. Fatty liver is associated with dyslipidemia and dysglycemia independent of visceral fat: the Framingham Heart Study. Hepatology. 2010 Jun; 51(6):1979-87. View Abstract

  234. Lin28a transgenic mice manifest size and puberty phenotypes identified in human genetic association studies. Nat Genet. 2010 Jul; 42(7):626-30. View Abstract

  235. An age-dependent diet-modified effect of the PPAR? Pro12Ala polymorphism in children. Metabolism. 2011 Apr; 60(4):467-73. View Abstract

  236. Fine mapping of the association with obesity at the FTO locus in African-derived populations. Hum Mol Genet. 2010 Jul 15; 19(14):2907-16. View Abstract

  237. Candidate gene association resource (CARe): design, methods, and proof of concept. Circ Cardiovasc Genet. 2010 Jun; 3(3):267-75. View Abstract

  238. Genome-wide association of anthropometric traits in African- and African-derived populations. Hum Mol Genet. 2010 Jul 01; 19(13):2725-38. View Abstract

  239. Distinct variants at LIN28B influence growth in height from birth to adulthood. Am J Hum Genet. 2010 May 14; 86(5):773-82. View Abstract

  240. Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nat Genet. 2010 May; 42(5):430-5. View Abstract

  241. Rapid assessment of genetic ancestry in populations of unknown origin by genome-wide genotyping of pooled samples. PLoS Genet. 2010 Mar 05; 6(3):e1000866. View Abstract

  242. Genetic determinants of pubertal timing in the general population. Mol Cell Endocrinol. 2010 Aug 05; 324(1-2):21-9. View Abstract

  243. Inborn variation in metabolism. Nat Genet. 2010 Feb; 42(2):97-8. View Abstract

  244. Meta-analysis of the INSIG2 association with obesity including 74,345 individuals: does heterogeneity of estimates relate to study design? PLoS Genet. 2009 Oct; 5(10):e1000694. View Abstract

  245. CYP19A1 genetic variation in relation to prostate cancer risk and circulating sex hormone concentrations in men from the Breast and Prostate Cancer Cohort Consortium. Cancer Epidemiol Biomarkers Prev. 2009 Oct; 18(10):2734-44. View Abstract

  246. Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet. 2009 Jun; 5(6):e1000508. View Abstract

  247. NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. PLoS Genet. 2009 Jun; 5(6):e1000539. View Abstract

  248. Common body mass index-associated variants confer risk of extreme obesity. Hum Mol Genet. 2009 Sep 15; 18(18):3502-7. View Abstract

  249. Progress in genome-wide association studies of human height. Horm Res. 2009 Apr; 71 Suppl 2:5-13. View Abstract

  250. Genomewide association studies--illuminating biologic pathways. N Engl J Med. 2009 Apr 23; 360(17):1699-701. View Abstract

  251. Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure. Nat Genet. 2009 Mar; 41(3):348-53. View Abstract

  252. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet. 2009 Mar; 41(3):334-41. View Abstract

  253. What controls the timing of puberty? An update on progress from genetic investigation. Curr Opin Endocrinol Diabetes Obes. 2009 Feb; 16(1):16-24. View Abstract

  254. Use of weighted reference panels based on empirical estimates of ancestry for capturing untyped variation. Hum Genet. 2009 Apr; 125(3):295-303. View Abstract

  255. Peroxisome proliferator-activated receptor-gamma (PPARgamma) Pro12Ala polymorphism and risk for pediatric obesity. Clin Chem Lab Med. 2009; 47(9):1047-50. View Abstract

  256. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet. 2009 Jan; 41(1):25-34. View Abstract

  257. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science. 2008 Dec 19; 322(5909):1839-42. View Abstract

  258. Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One. 2008; 3(10):e3583. View Abstract

  259. Ultraconserved elements: analyses of dosage sensitivity, motifs and boundaries. Genetics. 2008 Dec; 180(4):2277-93. View Abstract

  260. Genome-wide association studies: past, present and future. Hum Mol Genet. 2008 Oct 15; 17(R2):R100-1. View Abstract

  261. Genome-wide association studies: potential next steps on a genetic journey. Hum Mol Genet. 2008 Oct 15; 17(R2):R156-65. View Abstract

  262. Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche. J Clin Endocrinol Metab. 2008 Nov; 93(11):4290-8. View Abstract

  263. Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes. 2008 Nov; 57(11):3112-21. View Abstract

  264. DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci U S A. 2008 Aug 19; 105(33):11869-74. View Abstract

  265. Liver fat is reproducibly measured using computed tomography in the Framingham Heart Study. J Gastroenterol Hepatol. 2008 Jun; 23(6):894-9. View Abstract

  266. Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet. 2008 Jun; 40(6):768-75. View Abstract

  267. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet. 2008 May; 9(5):356-69. View Abstract

  268. Bona fide genetic associations with bone mineral density. N Engl J Med. 2008 May 29; 358(22):2403-5. View Abstract

  269. Identification of ten loci associated with height highlights new biological pathways in human growth. Nat Genet. 2008 May; 40(5):584-91. View Abstract

  270. On the replication of genetic associations: timing can be everything! Am J Hum Genet. 2008 Apr; 82(4):849-58. View Abstract

  271. Polymorphisms associated with cholesterol and risk of cardiovascular events. N Engl J Med. 2008 Mar 20; 358(12):1240-9. View Abstract

  272. A survey of allelic imbalance in F1 mice. Genome Res. 2008 Apr; 18(4):555-63. View Abstract

  273. Comprehensive evaluation of ESR2 variation and ovarian cancer risk. Cancer Epidemiol Biomarkers Prev. 2008 Feb; 17(2):393-6. View Abstract

  274. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci U S A. 2008 Feb 05; 105(5):1620-5. View Abstract

  275. Haplotypes of the estrogen receptor beta gene and breast cancer risk. Int J Cancer. 2008 Jan 15; 122(2):387-92. View Abstract

  276. Common variants in the GDF5-UQCC region are associated with variation in human height. Nat Genet. 2008 Feb; 40(2):198-203. View Abstract

  277. The ENPP1 K121Q polymorphism is associated with type 2 diabetes in European populations: evidence from an updated meta-analysis in 42,042 subjects. Diabetes. 2008 Apr; 57(4):1125-30. View Abstract

  278. Lactose and lactase--who is lactose intolerant and why? J Pediatr Gastroenterol Nutr. 2007 Dec; 45 Suppl 2:S131-7. View Abstract

  279. 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. BMC Med Genet. 2007 Dec 01; 8:72. View Abstract

  280. Discerning the ancestry of European Americans in genetic association studies. PLoS Genet. 2008 Jan; 4(1):e236. View Abstract

  281. CYP17 genetic variation and risk of breast and prostate cancer from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). Cancer Epidemiol Biomarkers Prev. 2007 Nov; 16(11):2237-46. View Abstract

  282. Sequence variants of estrogen receptor beta and risk of prostate cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium. Cancer Epidemiol Biomarkers Prev. 2007 Oct; 16(10):1973-81. View Abstract

  283. A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat Genet. 2007 Oct; 39(10):1245-50. View Abstract

  284. Common genetic variation in KCNH2 is associated with QT interval duration: the Framingham Heart Study. Circulation. 2007 Sep 04; 116(10):1128-36. View Abstract

  285. Replicating genotype-phenotype associations. Nature. 2007 Jun 07; 447(7145):655-60. View Abstract

  286. Heritability, linkage, and genetic associations of exercise treadmill test responses. Circulation. 2007 Jun 12; 115(23):2917-24. View Abstract

  287. Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation. Hum Genet. 2007 Sep; 122(2):129-39. View Abstract

  288. Genetic model testing and statistical power in population-based association studies of quantitative traits. Genet Epidemiol. 2007 May; 31(4):358-62. View Abstract

  289. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 2007 Jun 01; 316(5829):1331-6. View Abstract

  290. Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetes. Diabetologia. 2007 Jun; 50(6):1209-17. View Abstract

  291. Vascular stiffness and genetic variation at the endothelial nitric oxide synthase locus: the Framingham Heart study. Hypertension. 2007 Jun; 49(6):1285-90. View Abstract

  292. The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts. PLoS Genet. 2007 Apr 27; 3(4):e61. View Abstract

  293. Investigation of the estrogen receptor-alpha gene with type 2 diabetes and/or nephropathy in African-American and European-American populations. Diabetes. 2007 Mar; 56(3):675-84. View Abstract

  294. Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes. 2007 Mar; 56(3):685-93. View Abstract

  295. Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women. Cancer Res. 2007 Mar 01; 67(5):1893-7. View Abstract

  296. 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. Diabetes. 2007 May; 56(5):1460-7. View Abstract

  297. Clinical and genetic correlates of aldosterone-to-renin ratio and relations to blood pressure in a community sample. Hypertension. 2007 Apr; 49(4):846-56. View Abstract

  298. A systematic assessment of common genetic variation in CYP11A and risk of breast cancer. Cancer Res. 2006 Dec 15; 66(24):12019-25. View Abstract

  299. The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people. Diabetes. 2006 Dec; 55(12):3620-4. View Abstract

  300. Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity. Diabetes. 2006 Nov; 55(11):3180-4. View Abstract

  301. Transferability of tag SNPs in genetic association studies in multiple populations. Nat Genet. 2006 Nov; 38(11):1298-303. View Abstract

  302. Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals. Diabetes. 2006 Oct; 55(10):2890-5. View Abstract

  303. Haplotype-based association studies of IGFBP1 and IGFBP3 with prostate and breast cancer risk: the multiethnic cohort. Cancer Epidemiol Biomarkers Prev. 2006 Oct; 15(10):1993-7. View Abstract

  304. Phenotypic variation in constitutional delay of growth and puberty: relationship to specific leptin and leptin receptor gene polymorphisms. Eur J Endocrinol. 2006 Jul; 155(1):121-6. View Abstract

  305. Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation. 2006 Jun 13; 113(23):2697-705. View Abstract

  306. Comprehensive association testing of common mitochondrial DNA variation in metabolic disease. Am J Hum Genet. 2006 Jul; 79(1):54-61. View Abstract

  307. Phenotype-genotype association grid: a convenient method for summarizing multiple association analyses. BMC Genet. 2006 May 22; 7:30. View Abstract

  308. A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet. 2006 Jun; 38(6):644-51. View Abstract

  309. A common genetic variant is associated with adult and childhood obesity. Science. 2006 Apr 14; 312(5771):279-83. View Abstract

  310. Common genetic variation in five thrombosis genes and relations to plasma hemostatic protein level and cardiovascular disease risk. Arterioscler Thromb Vasc Biol. 2006 Jun; 26(6):1405-12. View Abstract

  311. Contribution of clinical correlates and 13 C-reactive protein gene polymorphisms to interindividual variability in serum C-reactive protein level. Circulation. 2006 Mar 21; 113(11):1415-23. View Abstract

  312. Haplotype structures and large-scale association testing of the 5' AMP-activated protein kinase genes PRKAA2, PRKAB1, and PRKAB2 [corrected] with type 2 diabetes. Diabetes. 2006 Mar; 55(3):849-55. View Abstract

  313. Haplotype analysis of the HSD17B1 gene and risk of breast cancer: a comprehensive approach to multicenter analyses of prospective cohort studies. Cancer Res. 2006 Feb 15; 66(4):2468-75. View Abstract

  314. Common genetic variation in IGF1 and prostate cancer risk in the Multiethnic Cohort. J Natl Cancer Inst. 2006 Jan 18; 98(2):123-34. View Abstract

  315. Igf-I genetic variation and breast cancer: the multiethnic cohort. Cancer Epidemiol Biomarkers Prev. 2006 Jan; 15(1):172-4. View Abstract

  316. High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people. Diabetes. 2006 Jan; 55(1):128-35. View Abstract

  317. Conserved noncoding sequences are selectively constrained and not mutation cold spots. Nat Genet. 2006 Feb; 38(2):223-7. View Abstract

  318. A candidate gene approach to searching for low-penetrance breast and prostate cancer genes. Nat Rev Cancer. 2005 12; 5(12):977-85. View Abstract

  319. Genetic variation in the HSD17B1 gene and risk of prostate cancer. PLoS Genet. 2005 Nov; 1(5):e68. View Abstract

  320. Comprehensive survey of common genetic variation at the plasminogen activator inhibitor-1 locus and relations to circulating plasminogen activator inhibitor-1 levels. Circulation. 2005 Sep 20; 112(12):1728-35. View Abstract

  321. Common genetic variation at the endothelial nitric oxide synthase locus and relations to brachial artery vasodilator function in the community. Circulation. 2005 Sep 06; 112(10):1419-27. View Abstract

  322. CCL2 polymorphisms are associated with serum monocyte chemoattractant protein-1 levels and myocardial infarction in the Framingham Heart Study. Circulation. 2005 Aug 23; 112(8):1113-20. View Abstract

  323. Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes. Diabetes. 2005 Aug; 54(8):2336-42. View Abstract

  324. Demonstrating stratification in a European American population. Nat Genet. 2005 Aug; 37(8):868-72. View Abstract

  325. Genetics of common forms of obesity: a brief overview. Am J Clin Nutr. 2005 07; 82(1 Suppl):215S-217S. View Abstract

  326. Genetic association studies of complex traits: design and analysis issues. Mutat Res. 2005 Jun 03; 573(1-2):54-69. View Abstract

  327. Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people. Diabetes. 2005 Jun; 54(6):1884-91. View Abstract

  328. Genetic approaches to studying common diseases and complex traits. Pediatr Res. 2005 May; 57(5 Pt 2):74R-77R. View Abstract

  329. MEF2A sequence variants and coronary artery disease: a change of heart? J Clin Invest. 2005 Apr; 115(4):831-3. View Abstract

  330. Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people. Diabetes. 2005 Mar; 54(3):886-92. View Abstract

  331. Genome-wide association studies for common diseases and complex traits. Nat Rev Genet. 2005 Feb; 6(2):95-108. View Abstract

  332. Genetic and genomic approaches to studying stature and pubertal timing. Pediatr Endocrinol Rev. 2005 Feb; 2 Suppl 3:351-4. View Abstract

  333. Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis. J Natl Cancer Inst. 2005 Jan 05; 97(1):51-9. View Abstract

  334. Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes. Diabetes. 2004 Dec; 53(12):3313-8. View Abstract

  335. In genetic control of disease, does 'race' matter? Nat Genet. 2004 Dec; 36(12):1243-4. View Abstract

  336. Systematic evaluation of genetic variation at the androgen receptor locus and risk of prostate cancer in a multiethnic cohort study. Am J Hum Genet. 2005 Jan; 76(1):82-90. View Abstract

  337. Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: investigation of role in pubertal timing. J Clin Endocrinol Metab. 2005 Feb; 90(2):1091-9. View Abstract

  338. Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort. Hum Mol Genet. 2004 Oct 15; 13(20):2431-41. View Abstract

  339. Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes. 2004 May; 53(5):1360-8. View Abstract

  340. Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet. 2004 Jun; 74(6):1111-20. View Abstract

  341. Maternal activating mutation of the calcium-sensing receptor: implications for calcium metabolism in the neonate. J Pediatr Endocrinol Metab. 2004 Apr; 17(4):673-7. View Abstract

  342. Assessing the impact of population stratification on genetic association studies. Nat Genet. 2004 Apr; 36(4):388-93. View Abstract

  343. Genetic approaches to stature, pubertal timing, and other complex traits. Mol Genet Metab. 2003 Sep-Oct; 80(1-2):1-10. View Abstract

  344. A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort. Hum Mol Genet. 2003 Oct 15; 12(20):2679-92. View Abstract

  345. PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet. 2003 Jul; 34(3):267-73. View Abstract

  346. Genetic epidemiology of type 1 diabetes. Pediatr Diabetes. 2003 Jun; 4(2):87-100. View Abstract

  347. Changing genes; losing lactase. Gut. 2003 May; 52(5):617-9. View Abstract

  348. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet. 2003 Feb; 33(2):177-82. View Abstract

  349. Choosing haplotype-tagging SNPS based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study. Hum Hered. 2003; 55(1):27-36. View Abstract

  350. The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits. Annu Rev Genomics Hum Genet. 2003; 4:257-91. View Abstract

  351. Modeling and E-M estimation of haplotype-specific relative risks from genotype data for a case-control study of unrelated individuals. Hum Hered. 2003; 55(4):179-90. View Abstract

  352. Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns. J Clin Endocrinol Metab. 2002 Dec; 87(12):5581-6. View Abstract

  353. Detection of regulatory variation in mouse genes. Nat Genet. 2002 Nov; 32(3):432-7. View Abstract

  354. Once and again-issues surrounding replication in genetic association studies. J Clin Endocrinol Metab. 2002 Oct; 87(10):4438-41. View Abstract

  355. 5' flanking variants of resistin are associated with obesity. Diabetes. 2002 May; 51(5):1629-34. View Abstract

  356. A comprehensive review of genetic association studies. Genet Med. 2002 Mar-Apr; 4(2):45-61. View Abstract

  357. Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. Am J Hum Genet. 2001 Jul; 69(1):106-16. View Abstract

  358. SBE-TAGS: an array-based method for efficient single-nucleotide polymorphism genotyping. Proc Natl Acad Sci U S A. 2000 Oct 24; 97(22):12164-9. View Abstract

  359. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet. 2000 Sep; 26(1):76-80. View Abstract

  360. Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse. Nat Genet. 2000 Apr; 24(4):381-6. View Abstract

  361. Upsetting the balance: VGF and the regulation of body weight. Neuron. 1999 Jul; 23(3):415-7. View Abstract

  362. A new class of histone H2A mutations in Saccharomyces cerevisiae causes specific transcriptional defects in vivo. Mol Cell Biol. 1995 Apr; 15(4):1999-2009. View Abstract

  363. Evidence that SNF2/SWI2 and SNF5 activate transcription in yeast by altering chromatin structure. Genes Dev. 1992 Dec; 6(12A):2288-98. View Abstract

  364. SPT3 is required for normal levels of a-factor and alpha-factor expression in Saccharomyces cerevisiae. Mol Cell Biol. 1988 Feb; 8(2):822-7. View Abstract
BESbswy