Joel N. Hirschhorn - Publications

Harvard University, Cambridge, MA, United States 
Genetics, Epidemiology

208 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any innacuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2016 van der Harst P, van Setten J, Verweij N, Vogler G, Franke L, Maurano MT, Wang X, Mateo Leach I, Eijgelsheim M, Sotoodehnia N, Hayward C, Sorice R, Meirelles O, Lyytikäinen LP, Polašek O, ... ... Hirschhorn JN, et al. 52 Genetic Loci Influencing Myocardial Mass. Journal of the American College of Cardiology. 68: 1435-48. PMID 27659466 DOI: 10.1016/j.jacc.2016.07.729  0.36
2016 Swartz JM, Ciarlo R, Guo MH, Abrha A, Diamond DA, Chan YM, Hirschhorn JN. Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing. Hormone Research in Paediatrics. PMID 27553487 DOI: 10.1159/000448754  0.36
2016 Chen GB, Lee SH, Robinson MR, Trzaskowski M, Zhu ZX, Winkler TW, Day FR, Croteau-Chonka DC, Wood AR, Locke AE, Kutalik Z, Loos RJ, Frayling TM, Hirschhorn JN, Yang J, et al. Across-cohort QC analyses of GWAS summary statistics from complex traits. European Journal of Human Genetics : Ejhg. PMID 27552965 DOI: 10.1038/ejhg.2016.106  0.36
2016 Tajuddin SM, Schick UM, Eicher JD, Chami N, Giri A, Brody JA, Hill WD, Kacprowski T, Li J, Lyytikäinen LP, Manichaikul A, Mihailov E, O'Donoghue ML, Pankratz N, Pazoki R, ... ... Hirschhorn JN, et al. Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. American Journal of Human Genetics. PMID 27346689 DOI: 10.1016/j.ajhg.2016.05.003  0.36
2016 Chami N, Chen MH, Slater AJ, Eicher JD, Evangelou E, Tajuddin SM, Love-Gregory L, Kacprowski T, Schick UM, Nomura A, Giri A, Lessard S, Brody JA, Schurmann C, Pankratz N, ... ... Hirschhorn JN, et al. Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. American Journal of Human Genetics. PMID 27346685 DOI: 10.1016/j.ajhg.2016.05.007  0.36
2016 Lessard S, Manning AK, Low-Kam C, Auer PL, Giri A, Graff M, Schurmann C, Yaghootkar H, Luan J, Esko T, Karaderi T, ... ... Hirschhorn JN, et al. Testing the Role of Predicted Gene Knockouts in Human Anthropometric Trait Variation. Human Molecular Genetics. PMID 26908616 DOI: 10.1093/hmg/ddw055  0.36
2016 Pers TH, Timshel P, Ripke S, Lent S, Sullivan PF, O'Donovan MC, Franke L, Hirschhorn JN. Comprehensive analysis of schizophrenia-associated loci highlights ion channel pathways and biologically plausible candidate causal genes. Human Molecular Genetics. PMID 26755824 DOI: 10.1093/hmg/ddw007  0.36
2016 Tyrrell J, Jones SE, Beaumont R, Astley CM, Lovell R, Yaghootkar H, Tuke M, Ruth KS, Freathy RM, Hirschhorn JN, Wood AR, Murray A, Weedon MN, Frayling TM. Height, body mass index, and socioeconomic status: Mendelian randomisation study in UK Biobank Bmj (Online). 352. DOI: 10.1136/bmj.i582  0.36
2015 Thaker VV, Lee F, Bottino CJ, Perry CL, Holm IA, Hirschhorn JN, Osganian SK. Impact of an Electronic Template on Documentation of Obesity in a Primary Care Clinic. Clinical Pediatrics. PMID 26676994 DOI: 10.1177/0009922815621331  0.36
2015 Lettre G, Hirschhorn JN. Small island, big genetic discoveries. Nature Genetics. 47: 1224-5. PMID 26506900 DOI: 10.1038/ng.3426  0.36
2015 Robinson MR, Hemani G, Medina-Gomez C, Mezzavilla M, Esko T, Shakhbazov K, Powell JE, Vinkhuyzen A, Berndt SI, Gustafsson S, Justice AE, Kahali B, Locke AE, Pers TH, Vedantam S, ... ... Hirschhorn JN, et al. Population genetic differentiation of height and body mass index across Europe. Nature Genetics. PMID 26366552 DOI: 10.1038/ng.3401  0.36
2015 Todd JN, Dahlström EH, Salem RM, Sandholm N, Forsblom C, McKnight AJ, Maxwell AP, Brennan E, Sadlier D, Godson C, Groop PH, Hirschhorn JN, Florez JC. Genetic Evidence for a Causal Role of Obesity in Diabetic Kidney Disease. Diabetes. PMID 26307587 DOI: 10.2337/db15-0254  0.36
2015 Usher CL, Handsaker RE, Esko T, Tuke MA, Weedon MN, Hastie AR, Cao H, Moon JE, Kashin S, Fuchsberger C, Metspalu A, Pato CN, Pato MT, McCarthy MI, Boehnke M, ... ... Hirschhorn JN, et al. Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity. Nature Genetics. PMID 26098870 DOI: 10.1038/ng.3340  0.36
2015 Chan Y, Salem RM, Hsu YH, McMahon G, Pers TH, Vedantam S, Esko T, Guo MH, Lim ET, Franke L, Smith GD, Strachan DP, Hirschhorn JN. Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development. American Journal of Human Genetics. 96: 695-708. PMID 25865494 DOI: 10.1016/j.ajhg.2015.02.018  0.36
2015 Nead KT, Li A, Wehner MR, Neupane B, Gustafsson S, Butterworth A, Engert JC, Davis AD, Hegele RA, Miller R, den Hoed M, Khaw KT, Kilpeläinen TO, Wareham N, Edwards TL, ... ... Hirschhorn JN, et al. 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. Human Molecular Genetics. 24: 3582-94. PMID 25784503 DOI: 10.1093/hmg/ddv097  0.36
2015 Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. The Journal of Clinical Endocrinology and Metabolism. 100: 1723-30. PMID 25781356 DOI: 10.1210/jc.2014-4215  0.36
2015 Wang SR, Jacobsen CM, Carmichael H, Edmund AB, Robinson JW, Olney RC, Miller TC, Moon JE, Mericq V, Potter LR, Warman ML, Hirschhorn JN, Dauber A. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. Human Mutation. 36: 474-81. PMID 25703509 DOI: 10.1002/humu.22773  0.36
2015 Zhu J, Choa RE, Guo MH, Plummer L, Buck C, Palmert MR, Hirschhorn JN, Seminara SB, Chan YM. A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism. The Journal of Clinical Endocrinology and Metabolism. 100: E646-54. PMID 25636053 DOI: 10.1210/jc.2015-1080  0.36
2015 Baffour-Awuah NY, Fleet S, Montgomery RK, Baker SS, Butler JL, Campbell C, Tischfield S, Mitchell PD, Allende-Richter S, Moon JE, Fishman L, Bousvaros A, Fox V, Kuokkanen M, Grand RJ, ... Hirschhorn JN, et al. 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. Journal of Pediatric Gastroenterology and Nutrition. 60: 182-91. PMID 25625576 DOI: 10.1097/MPG.0000000000000595  0.36
2015 Pers TH, Karjalainen JM, Chan Y, Westra HJ, Wood AR, Yang J, Lui JC, Vedantam S, Gustafsson S, Esko T, Frayling T, Speliotes EK, Boehnke M, Raychaudhuri S, ... ... Hirschhorn JN, et al. Biological interpretation of genome-wide association studies using predicted gene functions. Nature Communications. 6: 5890. PMID 25597830 DOI: 10.1038/ncomms6890  0.36
2015 Fehrmann RS, Karjalainen JM, Krajewska M, Westra HJ, Maloney D, Simeonov A, Pers TH, Hirschhorn JN, Jansen RC, Schultes EA, van Haagen HH, de Vries EG, te Meerman GJ, Wijmenga C, van Vugt MA, et al. Gene expression analysis identifies global gene dosage sensitivity in cancer. Nature Genetics. 47: 115-25. PMID 25581432 DOI: 10.1038/ng.3173  0.36
2015 Pers TH, Timshel P, Hirschhorn JN. SNPsnap: a Web-based tool for identification and annotation of matched SNPs. Bioinformatics (Oxford, England). 31: 418-20. PMID 25316677 DOI: 10.1093/bioinformatics/btu655  0.36
2014 Lim ET, Liu YP, Chan Y, Tiinamaija T, Käräjämäki A, Madsen E, Altshuler DM, Raychaudhuri S, Groop L, Flannick J, Hirschhorn JN, Katsanis N, Daly MJ. A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. American Journal of Human Genetics. 95: 509-20. PMID 25439097 DOI: 10.1016/j.ajhg.2014.09.015  0.36
2014 Swartz JM, Akinci A, Andrew SF, Si?irci A, Hirschhorn JN, Rosenfeld RG, Dauber A, Hwa V. A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype. Hormone Research in PæDiatrics. 82: 344-52. PMID 25376329 DOI: 10.1159/000368192  0.36
2014 Geller F, Feenstra B, Carstensen L, Pers TH, van Rooij IA, Körberg IB, Choudhry S, Karjalainen JM, Schnack TH, Hollegaard MV, Feitz WF, Roeleveld N, Hougaard DM, Hirschhorn JN, Franke L, et al. Genome-wide association analyses identify variants in developmental genes associated with hypospadias. Nature Genetics. 46: 957-63. PMID 25108383 DOI: 10.1038/ng.3063  0.36
2014 Lim ET, Würtz P, Havulinna AS, Palta P, Tukiainen T, Rehnström K, Esko T, Mägi R, Inouye M, Lappalainen T, Chan Y, Salem RM, Lek M, Flannick J, Sim X, ... ... Hirschhorn JN, et al. Distribution and medical impact of loss-of-function variants in the Finnish founder population. Plos Genetics. 10: e1004494. PMID 25078778 DOI: 10.1371/journal.pgen.1004494  0.36
2014 Guo MH, Shen Y, Walvoord EC, Miller TC, Moon JE, Hirschhorn JN, Dauber A. Whole exome sequencing to identify genetic causes of short stature. Hormone Research in PæDiatrics. 82: 44-52. PMID 24970356 DOI: 10.1159/000360857  0.36
2014 Dauber A, Rosenfeld RG, Hirschhorn JN. Genetic evaluation of short stature. The Journal of Clinical Endocrinology and Metabolism. 99: 3080-92. PMID 24915122 DOI: 10.1210/jc.2014-1506  0.36
2014 Wang SR, Agarwala V, Flannick J, Chiang CW, Altshuler D, Hirschhorn JN. Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland. American Journal of Human Genetics. 94: 710-20. PMID 24768551 DOI: 10.1016/j.ajhg.2014.03.019  0.36
2014 Nilsson O, Guo MH, Dunbar N, Popovic J, Flynn D, Jacobsen C, Lui JC, Hirschhorn JN, Baron J, Dauber A. Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. The Journal of Clinical Endocrinology and Metabolism. 99: E1510-8. PMID 24762113 DOI: 10.1210/jc.2014-1332  0.36
2014 MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, ... ... Hirschhorn JN, et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 508: 469-76. PMID 24759409 DOI: 10.1038/nature13127  0.36
2014 Macedo DB, Abreu AP, Reis AC, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LF, Teles MG, Carroll RS, Junior GG, Filho GG, Gucev Z, Arnhold IJ, de Castro M, ... ... Hirschhorn JN, et al. Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3. The Journal of Clinical Endocrinology and Metabolism. 99: E1097-103. PMID 24628548 DOI: 10.1210/jc.2013-3126  0.36
2014 Chan Y, Lim ET, Sandholm N, Wang SR, McKnight AJ, Ripke S, Daly MJ, Neale BM, Salem RM, Hirschhorn JN. An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases. American Journal of Human Genetics. 94: 437-52. PMID 24607388 DOI: 10.1016/j.ajhg.2014.02.006  0.36
2014 Dauber A, Ercan A, Lee J, James P, Jacobs PP, Ashline DJ, Wang SR, Miller T, Hirschhorn JN, Nigrovic PA, Sackstein R. Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect. Human Molecular Genetics. 23: 2880-7. PMID 24403049 DOI: 10.1093/hmg/ddu001  0.36
2014 Ito K, Bick AG, Flannick J, Friedman DJ, Genovese G, Parfenov MG, Depalma SR, Gupta N, Gabriel SB, Taylor HA, Fox ER, Newton-Cheh C, Kathiresan S, Hirschhorn JN, Altshuler DM, et al. Increased burden of cardiovascular disease in carriers of APOL1 genetic variants. Circulation Research. 114: 845-50. PMID 24379297 DOI: 10.1161/CIRCRESAHA.114.302347  0.36
2014 Batey L, Moon JE, Yu Y, Wu B, Hirschhorn JN, Shen Y, Dauber A. A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency. The Journal of Clinical Endocrinology and Metabolism. 99: E153-9. PMID 24243634 DOI: 10.1210/jc.2013-3106  0.36
2013 Dauber A, Golzio C, Guenot C, Jodelka FM, Kibaek M, Kjaergaard S, Leheup B, Martinet D, Nowaczyk MJ, Rosenfeld JA, Zeesman S, Zunich J, Beckmann JS, Hirschhorn JN, Hastings ML, et al. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. American Journal of Human Genetics. 93: 798-811. PMID 24140112 DOI: 10.1016/j.ajhg.2013.09.010  0.36
2013 Flannick J, Beer NL, Bick AG, Agarwala V, Molnes J, Gupta N, Burtt NP, Florez JC, Meigs JB, Taylor H, Lyssenko V, Irgens H, Fox E, Burslem F, Johansson S, ... ... Hirschhorn JN, et al. Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nature Genetics. 45: 1380-5. PMID 24097065 DOI: 10.1038/ng.2794  0.36
2013 Sandholm N, McKnight AJ, Salem RM, Brennan EP, Forsblom C, Harjutsalo V, Mäkinen VP, McKay GJ, Sadlier DM, Williams WW, Martin F, Panduru NM, Tarnow L, Tuomilehto J, Tryggvason K, ... ... Hirschhorn JN, et al. Chromosome 2q31.1 associates with ESRD in women with type 1 diabetes. Journal of the American Society of Nephrology : Jasn. 24: 1537-43. PMID 24029427 DOI: 10.1681/ASN.2012111122  0.36
2013 Guo MH, Stoler J, Lui J, Nilsson O, Bianchi DW, Hirschhorn JN, Dauber A. Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. American Journal of Medical Genetics. Part A. 161: 2519-27. PMID 23956117 DOI: 10.1002/ajmg.a.36128  0.36
2013 Asai M, Ramachandrappa S, Joachim M, Shen Y, Zhang R, Nuthalapati N, Ramanathan V, Strochlic DE, Ferket P, Linhart K, Ho C, Novoselova TV, Garg S, RidderstrÃ¥le M, Marcus C, ... Hirschhorn JN, et al. Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity. Science (New York, N.Y.). 341: 275-8. PMID 23869016 DOI: 10.1126/science.1233000  0.36
2013 Bønnelykke K, Matheson MC, Pers TH, Granell R, Strachan DP, Alves AC, Linneberg A, Curtin JA, Warrington NM, Standl M, Kerkhof M, Jonsdottir I, Bukvic BK, Kaakinen M, Sleimann P, ... ... Hirschhorn JN, et al. Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. Nature Genetics. 45: 902-6. PMID 23817571 DOI: 10.1038/ng.2694  0.36
2013 Wang SR, Carmichael H, Andrew SF, Miller TC, Moon JE, Derr MA, Hwa V, Hirschhorn JN, Dauber A. Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature. The Journal of Clinical Endocrinology and Metabolism. 98: E1428-37. PMID 23771920 DOI: 10.1210/jc.2013-1534  0.36
2013 Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, ... ... Hirschhorn JN, et al. Central precocious puberty caused by mutations in the imprinted gene MKRN3. The New England Journal of Medicine. 368: 2467-75. PMID 23738509 DOI: 10.1056/NEJMoa1302160  0.36
2013 Panagiotou OA, Willer CJ, Hirschhorn JN, Ioannidis JP. The power of meta-analysis in genome-wide association studies. Annual Review of Genomics and Human Genetics. 14: 441-65. PMID 23724904 DOI: 10.1146/annurev-genom-091212-153520  0.36
2013 Kantor DB, Palmer CD, Young TR, Meng Y, Gajdos ZK, Lyon H, Price AL, Pollack S, London SJ, Loehr LR, Smith LJ, Kumar R, Jacobs DR, Petrini MF, O'Connor GT, ... ... Hirschhorn JN, et al. Replication and fine mapping of asthma-associated loci in individuals of African ancestry. Human Genetics. 132: 1039-47. PMID 23666277 DOI: 10.1007/s00439-013-1310-7  0.36
2013 Fernández-Rhodes L, Demerath EW, Cousminer DL, Tao R, Dreyfus JG, Esko T, Smith AV, Gudnason V, Harris TB, Launer L, McArdle PF, Yerges-Armstrong LM, Elks CE, Strachan DP, Kutalik Z, ... ... Hirschhorn JN, et al. Association of adiposity genetic variants with menarche timing in 92,105 women of European descent. American Journal of Epidemiology. 178: 451-60. PMID 23558354 DOI: 10.1093/aje/kws473  0.36
2013 Chen CY, Pollack S, Hunter DJ, Hirschhorn JN, Kraft P, Price AL. Improved ancestry inference using weights from external reference panels. Bioinformatics (Oxford, England). 29: 1399-406. PMID 23539302 DOI: 10.1093/bioinformatics/btt144  0.36
2013 Hernaez R, McLean J, Lazo M, Brancati FL, Hirschhorn JN, Borecki IB, Harris TB, Nguyen T, Kamel IR, Bonekamp S, Eberhardt MS, Clark JM, Kao WH, Speliotes EK. 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. Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association. 11: 1183-1190.e2. PMID 23416328 DOI: 10.1016/j.cgh.2013.02.011  0.36
2013 Dauber A, Stoler J, Hechter E, Safer J, Hirschhorn JN. Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder. The Journal of Pediatrics. 162: 202-4.e1. PMID 22974575 DOI: 10.1016/j.jpeds.2012.07.055  0.36
2013 Ramasamy A, Kuokkanen M, Vedantam S, Gajdos ZK, Alves AC, Lyon HN, Ferreira MAR, Strachan DP, Zhao JH, Abramson MJ, Brown MA, Coin L, Dharmage SC, Duffy DL, Haahtela T, ... ... Hirschhorn JN, et al. 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) Plos One. 8. DOI: 10.1371/annotation/9630862b-4676-4b82-9869-8d8fbb2a2e65  0.36
2012 Ramasamy A, Kuokkanen M, Vedantam S, Gajdos ZK, Couto Alves A, Lyon HN, Ferreira MA, Strachan DP, Zhao JH, Abramson MJ, Brown MA, Coin L, Dharmage SC, Duffy DL, Haahtela T, ... ... Hirschhorn JN, et al. Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA. Plos One. 7: e44008. PMID 23028483 DOI: 10.1371/journal.pone.0044008  0.36
2012 Silveira-Neto AP, Leal LF, Emerman AB, Henderson KD, Piskounova E, Henderson BE, Gregory RI, Silveira LF, Hirschhorn JN, Nguyen TT, Beneduzzi D, Tusset C, Reis AC, Brito VN, Mendonca BB, et al. Absence of functional LIN28B mutations in a large cohort of patients with idiopathic central precocious puberty. Hormone Research in PæDiatrics. 78: 144-50. PMID 22964795 DOI: 10.1159/00034221272229  0.36
2012 Bick AG, Flannick J, Ito K, Cheng S, Vasan RS, Parfenov MG, Herman DS, DePalma SR, Gupta N, Gabriel SB, Funke BH, Rehm HL, Benjamin EJ, Aragam J, Taylor HA, ... ... Hirschhorn JN, et al. Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. American Journal of Human Genetics. 91: 513-9. PMID 22958901 DOI: 10.1016/j.ajhg.2012.07.017  0.36
2012 Dauber A, Lafranchi SH, Maliga Z, Lui JC, Moon JE, McDeed C, Henke K, Zonana J, Kingman GA, Pers TH, Baron J, Rosenfeld RG, Hirschhorn JN, Harris MP, Hwa V. Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. The Journal of Clinical Endocrinology and Metabolism. 97: E2140-51. PMID 22933543 DOI: 10.1210/jc.2012-2150  0.36
2012 Lui JC, Nilsson O, Chan Y, Palmer CD, Andrade AC, Hirschhorn JN, Baron J. Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height. Human Molecular Genetics. 21: 5193-201. PMID 22914739 DOI: 10.1093/hmg/dds347  0.36
2012 Turchin MC, Chiang CW, Palmer CD, Sankararaman S, Reich D, Hirschhorn JN. Evidence of widespread selection on standing variation in Europe at height-associated SNPs. Nature Genetics. 44: 1015-9. PMID 22902787 DOI: 10.1038/ng.2368  0.36
2012 Voight BF, Kang HM, Ding J, Palmer CD, Sidore C, Chines PS, Burtt NP, Fuchsberger C, Li Y, Erdmann J, Frayling TM, Heid IM, Jackson AU, Johnson T, Kilpeläinen TO, ... ... Hirschhorn JN, et al. The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. Plos Genetics. 8: e1002793. PMID 22876189 DOI: 10.1371/journal.pgen.1002793  0.36
2012 Vimaleswaran KS, Tachmazidou I, Zhao JH, Hirschhorn JN, Dudbridge F, Loos RJ. Candidate genes for obesity-susceptibility show enriched association within a large genome-wide association study for BMI. Human Molecular Genetics. 21: 4537-42. PMID 22791748 DOI: 10.1093/hmg/dds283  0.36
2012 Williams WW, Salem RM, McKnight AJ, Sandholm N, Forsblom C, Taylor A, Guiducci C, McAteer JB, McKay GJ, Isakova T, Brennan EP, Sadlier DM, Palmer C, Söderlund J, Fagerholm E, ... ... Hirschhorn JN, et al. Association testing of previously reported variants in a large case-control meta-analysis of diabetic nephropathy. Diabetes. 61: 2187-94. PMID 22721967 DOI: 10.2337/db11-0751  0.36
2012 Chiang CW, Liu CT, Lettre G, Lange LA, Jorgensen NW, Keating BJ, Vedantam S, Nock NL, Franceschini N, Reiner AP, Demerath EW, Boerwinkle E, Rotter JI, Wilson JG, North KE, ... ... Hirschhorn JN, et al. Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms. Genetics. 192: 253-66. PMID 22714408 DOI: 10.1534/genetics.112.141945  0.36
2012 Bradfield JP, Taal HR, Timpson NJ, Scherag A, Lecoeur C, Warrington NM, Hypponen E, Holst C, Valcarcel B, Thiering E, Salem RM, Schumacher FR, Cousminer DL, Sleiman PM, Zhao J, ... ... Hirschhorn JN, et al. A genome-wide association meta-analysis identifies new childhood obesity loci. Nature Genetics. 44: 526-31. PMID 22484627 DOI: 10.1038/ng.2247  0.36
2012 Yang J, Ferreira T, Morris AP, Medland SE, Madden PA, Heath AC, Martin NG, Montgomery GW, Weedon MN, Loos RJ, Frayling TM, McCarthy MI, Hirschhorn JN, et al. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nature Genetics. 44: 369-75, S1-3. PMID 22426310 DOI: 10.1038/ng.2213  0.36
2012 Turchin MC, Hirschhorn JN. Gencrypt: One-way cryptographic hashes to detect overlapping individuals across samples Bioinformatics. 28: 886-888. PMID 22302573 DOI: 10.1093/bioinformatics/bts045  0.36
2012 Panagiotou OA, Ioannidis JPA, Hirschhorn JN, Abecasis GR, Frayling TM, McCarthy MI, Lindgren CM, Beaty TH, Eriksson N, Polychronakos C, Kathirensan S, Plenge RM, Spritz R, Payami H, Martin ER, et al. What should the genome-wide significance threshold be? Empirical replication of borderline genetic associations International Journal of Epidemiology. 41: 273-286. PMID 22253303 DOI: 10.1093/ije/dyr178  0.36
2012 Dauber A, Nguyen TT, Sochett E, Cole DE, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. The Journal of Clinical Endocrinology and Metabolism. 97: E268-74. PMID 22112808 DOI: 10.1210/jc.2011-1972  0.36
2011 Chan Y, Holmen OL, Dauber A, Vatten L, Havulinna AS, Skorpen F, Kvaløy K, Silander K, Nguyen TT, Willer C, Boehnke M, Perola M, Palotie A, Salomaa V, Hveem K, ... ... Hirschhorn JN, et al. Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals. Plos Genetics. 7: e1002439. PMID 22242009 DOI: 10.1371/journal.pgen.1002439  0.36
2011 Dauber A, Yu Y, Turchin MC, Chiang CW, Meng YA, Demerath EW, Patel SR, Rich SS, Rotter JI, Schreiner PJ, Wilson JG, Shen Y, Wu BL, Hirschhorn JN. Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions. American Journal of Human Genetics. 89: 751-9. PMID 22118881 DOI: 10.1016/j.ajhg.2011.10.014  0.36
2011 N'Diaye A, Chen GK, Palmer CD, Ge B, Tayo B, Mathias RA, Ding J, Nalls MA, Adeyemo A, Adoue V, Ambrosone CB, Atwood L, Bandera EV, Becker LC, Berndt SI, ... ... Hirschhorn JN, et al. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. Plos Genetics. 7: e1002298. PMID 21998595 DOI: 10.1371/journal.pgen.1002298  0.36
2011 Liu M, Rogers L, Cheng Q, Shao Y, Fernandez-Beros ME, Hirschhorn JN, Lyon HN, Gajdos ZK, Vedantam S, Gregersen P, Seldin MF, Bleck B, Ramasamy A, Hartikainen AL, Jarvelin MR, et al. Genetic variants of TSLP and asthma in an admixed urban population. Plos One. 6: e25099. PMID 21966427 DOI: 10.1371/journal.pone.0025099  0.36
2011 Ferreira MA, Matheson MC, Duffy DL, Marks GB, Hui J, Le Souëf P, Danoy P, Baltic S, Nyholt DR, Jenkins M, Hayden C, Willemsen G, Ang W, Kuokkanen M, Beilby J, ... ... Hirschhorn JN, et al. Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. Lancet. 378: 1006-14. PMID 21907864 DOI: 10.1016/S0140-6736(11)60874-X  0.36
2011 Hinch AG, Tandon A, Patterson N, Song Y, Rohland N, Palmer CD, Chen GK, Wang K, Buxbaum SG, Akylbekova EL, Aldrich MC, Ambrosone CB, Amos C, Bandera EV, Berndt SI, ... ... Hirschhorn JN, et al. The landscape of recombination in African Americans. Nature. 476: 170-5. PMID 21775986 DOI: 10.1038/nature10336  0.36
2011 Pasaniuc B, Zaitlen N, Lettre G, Chen GK, Tandon A, Kao WH, Ruczinski I, Fornage M, Siscovick DS, Zhu X, Larkin E, Lange LA, Cupples LA, Yang Q, Akylbekova EL, ... ... Hirschhorn JN, et al. Enhanced statistical tests for GWAS in admixed populations: assessment using African Americans from CARe and a Breast Cancer Consortium. Plos Genetics. 7: e1001371. PMID 21541012 DOI: 10.1371/journal.pgen.1001371  0.36
2011 Moorjani P, Patterson N, Hirschhorn JN, Keinan A, Hao L, Atzmon G, Burns E, Ostrer H, Price AL, Reich D. The history of African gene flow into Southern Europeans, Levantines, and Jews. Plos Genetics. 7: e1001373. PMID 21533020 DOI: 10.1371/journal.pgen.1001373  0.36
2011 Dauber A, Hirschhorn JN. Genome-wide association studies in pediatric endocrinology. Hormone Research in PæDiatrics. 75: 322-8. PMID 21464565 DOI: 10.1159/000326684  0.36
2011 Chiang CW, Gajdos ZK, Korn JM, Butler JL, Hackett R, Guiducci C, Nguyen TT, Wilks R, Forrester T, Henderson KD, Le Marchand L, Henderson BE, Haiman CA, Cooper RS, Lyon HN, ... ... Hirschhorn JN, et al. The efficacy of detecting variants with small effects on the Affymetrix 6.0 platform using pooled DNA. Human Genetics. 130: 607-21. PMID 21424828 DOI: 10.1007/s00439-011-0974-0  0.36
2011 Speliotes EK, Yerges-Armstrong LM, Wu J, Hernaez R, Kim LJ, Palmer CD, Gudnason V, Eiriksdottir G, Garcia ME, Launer LJ, Nalls MA, Clark JM, Mitchell BD, Shuldiner AR, Butler JL, ... ... Hirschhorn JN, et al. Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits. Plos Genetics. 7: e1001324. PMID 21423719 DOI: 10.1371/journal.pgen.1001324  0.36
2011 Zhu X, Young JH, Fox E, Keating BJ, Franceschini N, Kang S, Tayo B, Adeyemo A, Sun YV, Li Y, Morrison A, Newton-Cheh C, Liu K, Ganesh SK, Kutlar A, ... ... Hirschhorn JN, et al. Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium. Human Molecular Genetics. 20: 2285-95. PMID 21422096 DOI: 10.1093/hmg/ddr113  0.36
2011 Yang J, Weedon MN, Purcell S, Lettre G, Estrada K, Willer CJ, Smith AV, Ingelsson E, O'Connell JR, Mangino M, Mägi R, Madden PA, Heath AC, Nyholt DR, Martin NG, ... ... Hirschhorn JN, et al. Genomic inflation factors under polygenic inheritance. European Journal of Human Genetics : Ejhg. 19: 807-12. PMID 21407268 DOI: 10.1038/ejhg.2011.39  0.36
2011 Lettre G, Palmer CD, Young T, Ejebe KG, Allayee H, Benjamin EJ, Bennett F, Bowden DW, Chakravarti A, Dreisbach A, Farlow DN, Folsom AR, Fornage M, Forrester T, Fox E, ... ... Hirschhorn JN, et al. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. Plos Genetics. 7: e1001300. PMID 21347282 DOI: 10.1371/journal.pgen.1001300  0.36
2011 Hirschhorn JN, Gajdos ZK. Genome-wide association studies: results from the first few years and potential implications for clinical medicine. Annual Review of Medicine. 62: 11-24. PMID 21226609 DOI: 10.1146/  0.36
2011 Dedoussis GV, Yannakoulia M, Timpson NJ, Manios Y, Kanoni S, Scott RA, Papoutsakis C, Deloukas P, Pitsiladis YP, Davey-Smith G, Hirschhorn JN, Lyon HN. Does a short breastfeeding period protect from FTO-induced adiposity in children? International Journal of Pediatric Obesity : Ijpo : An Official Journal of the International Association For the Study of Obesity. 6: e326-35. PMID 20863147 DOI: 10.3109/17477166.2010.490269  0.36
2011 Dedoussis GV, Manios Y, Kourlaba G, Kanoni S, Lagou V, Butler J, Papoutsakis C, Scott RA, Yannakoulia M, Pitsiladis YP, Hirschhorn JN, Lyon HN. An age-dependent diet-modified effect of the PPARγ Pro12Ala polymorphism in children. Metabolism: Clinical and Experimental. 60: 467-73. PMID 20580778 DOI: 10.1016/j.metabol.2010.04.007  0.36
2010 Galarneau G, Palmer CD, Sankaran VG, Orkin SH, Hirschhorn JN, Lettre G. Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation Nature Genetics. 42: 1049-1051. PMID 21057501 DOI: 10.1038/ng.707  0.36
2010 Dauber A, Hirschhorn JN, Picker J, Maher TA, Milunsky A. Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. Pediatrics. 126: e1594-8. PMID 21041284 DOI: 10.1542/peds.2010-0164  0.36
2010 Sankaran VG, Lettre G, Orkin SH, Hirschhorn JN. Modifier genes in Mendelian disorders: the example of hemoglobin disorders. Annals of the New York Academy of Sciences. 1214: 47-56. PMID 21039591 DOI: 10.1111/j.1749-6632.2010.05821.x  0.36
2010 Speliotes EK, Butler JL, Palmer CD, Voight BF, Hirschhorn JN. PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease. Hepatology (Baltimore, Md.). 52: 904-12. PMID 20648472 DOI: 10.1002/hep.23768  0.36
2010 Zhu H, Shah S, Shyh-Chang N, Shinoda G, Einhorn WS, Viswanathan SR, Takeuchi A, Grasemann C, Rinn JL, Lopez MF, Hirschhorn JN, Palmert MR, Daley GQ. Lin28a transgenic mice manifest size and puberty phenotypes identified in human genetic association studies. Nature Genetics. 42: 626-30. PMID 20512147 DOI: 10.1038/ng.593  0.36
2010 Hassanein MT, Lyon HN, Nguyen TT, Akylbekova EL, Waters K, Lettre G, Tayo B, Forrester T, Sarpong DF, Stram DO, Butler JL, Wilks R, Liu J, Le Marchand L, Kolonel LN, ... ... Hirschhorn JN, et al. Fine mapping of the association with obesity at the FTO locus in African-derived populations. Human Molecular Genetics. 19: 2907-16. PMID 20430937 DOI: 10.1093/hmg/ddq178  0.36
2010 Musunuru K, Lettre G, Young T, Farlow DN, Pirruccello JP, Ejebe KG, Keating BJ, Yang Q, Chen MH, Lapchyk N, Crenshaw A, Ziaugra L, Rachupka A, Benjamin EJ, Cupples LA, ... ... Hirschhorn JN, et al. Candidate gene association resource (CARe): design, methods, and proof of concept. Circulation. Cardiovascular Genetics. 3: 267-75. PMID 20400780 DOI: 10.1161/CIRCGENETICS.109.882696  0.36
2010 Kang SJ, Chiang CW, Palmer CD, Tayo BO, Lettre G, Butler JL, Hackett R, Adeyemo AA, Guiducci C, Berzins I, Nguyen TT, Feng T, Luke A, Shriner D, Ardlie K, ... ... Hirschhorn JN, et al. Genome-wide association of anthropometric traits in African- and African-derived populations. Human Molecular Genetics. 19: 2725-38. PMID 20400458 DOI: 10.1093/hmg/ddq154  0.36
2010 Widén E, Ripatti S, Cousminer DL, Surakka I, Lappalainen T, Järvelin MR, Eriksson JG, Raitakari O, Salomaa V, Sovio U, Hartikainen AL, Pouta A, McCarthy MI, Osmond C, Kajantie E, ... ... Hirschhorn JN, et al. Distinct variants at LIN28B influence growth in height from birth to adulthood. American Journal of Human Genetics. 86: 773-82. PMID 20398887 DOI: 10.1016/j.ajhg.2010.03.010  0.36
2010 Freathy RM, Mook-Kanamori DO, Sovio U, Prokopenko I, Timpson NJ, Berry DJ, Warrington NM, Widen E, Hottenga JJ, Kaakinen M, Lange LA, Bradfield JP, Kerkhof M, Marsh JA, Mägi R, ... ... Hirschhorn JN, et al. Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nature Genetics. 42: 430-5. PMID 20372150 DOI: 10.1038/ng.567  0.36
2010 Speliotes EK, Massaro JM, Hoffmann U, Vasan RS, Meigs JB, Sahani DV, Hirschhorn JN, O'Donnell CJ, Fox CS. Fatty liver is associated with dyslipidemia and dysglycemia independent of visceral fat: the Framingham Heart Study. Hepatology (Baltimore, Md.). 51: 1979-87. PMID 20336705 DOI: 10.1002/hep.23593  0.36
2010 Chiang CW, Gajdos ZK, Korn JM, Kuruvilla FG, Butler JL, Hackett R, Guiducci C, Nguyen TT, Wilks R, Forrester T, Haiman CA, Henderson KD, Le Marchand L, Henderson BE, Palmert MR, ... ... Hirschhorn JN, et al. Rapid assessment of genetic ancestry in populations of unknown origin by genome-wide genotyping of pooled samples. Plos Genetics. 6: e1000866. PMID 20221249 DOI: 10.1371/journal.pgen.1000866  0.36
2010 Gajdos ZK, Henderson KD, Hirschhorn JN, Palmert MR. Genetic determinants of pubertal timing in the general population. Molecular and Cellular Endocrinology. 324: 21-9. PMID 20144687 DOI: 10.1016/j.mce.2010.01.038  0.36
2010 Mootha VK, Hirschhorn JN. Inborn variation in metabolism. Nature Genetics. 42: 97-8. PMID 20104246 DOI: 10.1038/ng0210-97  0.36
2010 Cotsapas C, Speliotes EK, Hatoum IJ, Greenawalt DM, Dobrin R, Lum PY, Suver C, Chudin E, Kemp D, Reitman M, Voight BF, Neale BM, Schadt EE, Hirschhorn JN, Kaplan LM, et al. Corrigendum to Common body mass index-associated variants confer risk of extreme obesity [Human Molecular Genetics, 2009; 18;18, 3502-3507, 10.1093/hmg/ddp292] Human Molecular Genetics. 19: 3690-3691. DOI: 10.1093/hmg/ddq287  0.36
2009 Heid IM, Huth C, Loos RJ, Kronenberg F, Adamkova V, Anand SS, Ardlie K, Biebermann H, Bjerregaard P, Boeing H, Bouchard C, Ciullo M, Cooper JA, Corella D, Dina C, ... ... Hirschhorn JN, et al. Meta-analysis of the INSIG2 association with obesity including 74,345 individuals: does heterogeneity of estimates relate to study design? Plos Genetics. 5: e1000694. PMID 19851442 DOI: 10.1371/journal.pgen.1000694  0.36
2009 Travis RC, Schumacher F, Hirschhorn JN, Kraft P, Allen NE, Albanes D, Berglund G, Berndt SI, Boeing H, Bueno-de-Mesquita HB, Calle EE, Chanock S, Dunning AM, Hayes R, Feigelson HS, et al. 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 Epidemiology, Biomarkers & Prevention : a Publication of the American Association For Cancer Research, Cosponsored by the American Society of Preventive Oncology. 18: 2734-44. PMID 19789370 DOI: 10.1158/1055-9965.EPI-09-0496  0.36
2009 Dedoussis GV, Vidra N, Butler J, Papoutsakis C, Yannakoulia M, Hirschhorn JN, Lyon HN. Peroxisome proliferator-activated receptor-γ (PPARγ) Pro12Ala polymorphism and risk for pediatric obesity Clinical Chemistry and Laboratory Medicine. 47: 1047-1050. PMID 19634985 DOI: 10.1515/CCLM.2009.242  0.36
2009 Cotsapas C, Speliotes EK, Hatoum IJ, Greenawalt DM, Dobrin R, Lum PY, Suver C, Chudin E, Kemp D, Reitman M, Voight BF, Neale BM, Schadt EE, Hirschhorn JN, Kaplan LM, et al. Common body mass index-associated variants confer risk of extreme obesity. Human Molecular Genetics. 18: 3502-7. PMID 19553259 DOI: 10.1093/hmg/ddp292  0.36
2009 Hirschhorn JN, Lettre G. Progress in genome-wide association studies of human height Hormone Research. 71: 5-13. PMID 19407491 DOI: 10.1159/000192430  0.36
2009 Hirschhorn JN. Genomewide association studies - Illuminating biologic pathways New England Journal of Medicine. 360: 1699-1701. PMID 19369661 DOI: 10.1056/NEJMp0808934  0.36
2009 Newton-Cheh C, Larson MG, Vasan RS, Levy D, Bloch KD, Surti A, Guiducci C, Kathiresan S, Benjamin EJ, Struck J, Morgenthaler NG, Bergmann A, Blankenberg S, Kee F, Nilsson P, ... ... Hirschhorn JN, et al. Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure. Nature Genetics. 41: 348-53. PMID 19219041 DOI: 10.1038/ng.328  0.36
2009 Egyud MR, Gajdos ZK, Butler JL, Tischfield S, Le Marchand L, Kolonel LN, Haiman CA, Henderson BE, Hirschhorn JN. Use of weighted reference panels based on empirical estimates of ancestry for capturing untyped variation. Human Genetics. 125: 295-303. PMID 19184111 DOI: 10.1007/s00439-009-0627-8  0.36
2009 Gajdos ZK, Hirschhorn JN, Palmert MR. What controls the timing of puberty? An update on progress from genetic investigation. Current Opinion in Endocrinology, Diabetes, and Obesity. 16: 16-24. PMID 19104234 DOI: 10.1097/MED.0b013e328320253c  0.36
2008 Sankaran VG, Menne TF, Xu J, Akie TE, Lettre G, Van Handel B, Mikkola HK, Hirschhorn JN, Cantor AB, Orkin SH. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science (New York, N.Y.). 322: 1839-42. PMID 19056937 DOI: 10.1126/science.1165409  0.36
2008 Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, Galver L, Barrett JC, Grant SF, Farlow DN, Chandrupatla HR, Hansen M, Ajmal S, Papanicolaou GJ, Guo Y, ... ... Hirschhorn JN, et al. Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. Plos One. 3: e3583. PMID 18974833 DOI: 10.1371/journal.pone.0003583  0.36
2008 Chiang CW, Derti A, Schwartz D, Chou MF, Hirschhorn JN, Wu CT. Ultraconserved elements: analyses of dosage sensitivity, motifs and boundaries. Genetics. 180: 2277-93. PMID 18957701 DOI: 10.1534/genetics.108.096537  0.36
2008 McCarthy MI, Hirschhorn JN. Genome-wide association studies: Potential next steps on a genetic journey Human Molecular Genetics. 17. PMID 18852205 DOI: 10.1093/hmg/ddn289  0.36
2008 McCarthy MI, Hirschhorn JN. Editorial: Genome-wide association studies: Past, present and future Human Molecular Genetics. 17. PMID 18852196 DOI: 10.1093/hmg/ddn298  0.36
2008 Gajdos ZK, Butler JL, Henderson KD, He C, Supelak PJ, Egyud M, Price A, Reich D, Clayton PE, Le Marchand L, Hunter DJ, Henderson BE, Palmert MR, Hirschhorn JN. Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche. The Journal of Clinical Endocrinology and Metabolism. 93: 4290-8. PMID 18728166 DOI: 10.1210/jc.2008-0981  0.36
2008 Orho-Melander M, Melander O, Guiducci C, Perez-Martinez P, Corella D, Roos C, Tewhey R, Rieder MJ, Hall J, Abecasis G, Tai ES, Welch C, Arnett DK, Lyssenko V, Lindholm E, ... ... Hirschhorn JN, et al. 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. 57: 3112-21. PMID 18678614 DOI: 10.2337/db08-0516  0.36
2008 Lettre G, Sankaran VG, Bezerra MA, Araújo AS, Uda M, Sanna S, Cao A, Schlessinger D, Costa FF, Hirschhorn JN, Orkin SH. DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proceedings of the National Academy of Sciences of the United States of America. 105: 11869-74. PMID 18667698 DOI: 10.1073/pnas.0804799105  0.36
2008 Speliotes EK, Massaro JM, Hoffmann U, Foster MC, Sahani DV, Hirschhorn JN, O'Donnell CJ, Fox CS. Liver fat is reproducibly measured using computed tomography in the Framingham Heart Study. Journal of Gastroenterology and Hepatology. 23: 894-9. PMID 18565021 DOI: 10.1111/j.1440-1746.2008.05420.x  0.36
2008 Hirschhorn JN, Gennari L. Bona fide genetic associations with bone mineral density New England Journal of Medicine. 358: 2403-2405. PMID 18445778 DOI: 10.1056/NEJMe0803046  0.36
2008 McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JPA, Hirschhorn JN. Genome-wide association studies for complex traits: Consensus, uncertainty and challenges Nature Reviews Genetics. 9: 356-369. PMID 18398418 DOI: 10.1038/nrg2344  0.36
2008 Lettre G, Jackson AU, Gieger C, Schumacher FR, Berndt SI, Sanna S, Eyheramendy S, Voight BF, Butler JL, Guiducci C, Illig T, Hackett R, Heid IM, Jacobs KB, Lyssenko V, ... ... Hirschhorn JN, et al. Identification of ten loci associated with height highlights new biological pathways in human growth. Nature Genetics. 40: 584-91. PMID 18391950 DOI: 10.1038/ng.125  0.36
2008 Kathiresan S, Melander O, Anevski D, Guiducci C, Burtt NP, Roos C, Hirschhorn JN, Berglund G, Hedblad B, Groop L, Altshuler DM, Newton-Cheh C, Orho-Melander M. Polymorphisms associated with cholesterol and risk of cardiovascular events. The New England Journal of Medicine. 358: 1240-9. PMID 18354102 DOI: 10.1056/NEJMoa0706728  0.36
2008 Leigh Pearce C, Near AM, Butler JL, Van Den Berg D, Bretsky P, Conti DV, Stram DO, Pike MC, Hirschhorn JN, Wu AH. Comprehensive evaluation of ESR2 variation and ovarian cancer risk. Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association For Cancer Research, Cosponsored by the American Society of Preventive Oncology. 17: 393-6. PMID 18268123 DOI: 10.1158/1055-9965.EPI-07-2512  0.36
2008 Campbell CD, Kirby A, Nemesh J, Daly MJ, Hirschhorn JN. A survey of allelic imbalance in F1 mice. Genome Research. 18: 555-63. PMID 18256236 DOI: 10.1101/gr.068692.107  0.36
2008 Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, ... ... Hirschhorn JN, et al. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proceedings of the National Academy of Sciences of the United States of America. 105: 1620-5. PMID 18245381 DOI: 10.1073/pnas.0711566105  0.36
2008 Price AL, Butler J, Patterson N, Capelli C, Pascali VL, Scarnicci F, Ruiz-Linares A, Groop L, Saetta AA, Korkolopoulou P, Seligsohn U, Waliszewska A, Schirmer C, Ardlie K, Ramos A, ... ... Hirschhorn JN, et al. Discerning the ancestry of European Americans in genetic association studies. Plos Genetics. 4: e236. PMID 18208327 DOI: 10.1371/journal.pgen.0030236  0.36
2008 Sanna S, Jackson AU, Nagaraja R, Willer CJ, Chen WM, Bonnycastle LL, Shen H, Timpson N, Lettre G, Usala G, Chines PS, Stringham HM, Scott LJ, Dei M, Lai S, ... ... Hirschhorn JN, et al. Common variants in the GDF5-UQCC region are associated with variation in human height. Nature Genetics. 40: 198-203. PMID 18193045 DOI: 10.1038/ng.74  0.36
2008 McAteer JB, Prudente S, Bacci S, Lyon HN, Hirschhorn JN, Trischitta V, Florez JC. The ENPP1 K121Q polymorphism is associated with type 2 diabetes in European populations: evidence from an updated meta-analysis in 42,042 subjects. Diabetes. 57: 1125-30. PMID 18071025 DOI: 10.2337/db07-1336  0.36
2007 Montgomery RK, Krasinski SD, Hirschhorn JN, Grand RJ. Lactose and lactase - Who is lactose intolerant and why? Journal of Pediatric Gastroenterology and Nutrition. 45. PMID 18185074 DOI: 10.1097/MPG.0b013e31812e68f6  0.36
2007 Lee SA, Haiman CA, Burtt NP, Pooler LC, Cheng I, Kolonel LN, Pike MC, Altshuler D, Hirschhorn JN, Henderson BE, Stram DO. 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 Medical Genetics. 8: 72. PMID 18053149 DOI: 10.1186/1471-2350-8-72  0.36
2007 Setiawan VW, Schumacher FR, Haiman CA, Stram DO, Albanes D, Altshuler D, Berglund G, Buring J, Calle EE, Clavel-Chapelon F, Cox DG, Gaziano JM, Hankinson SE, Hayes RB, Henderson BE, ... Hirschhorn J, et al. CYP17 genetic variation and risk of breast and prostate cancer from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association For Cancer Research, Cosponsored by the American Society of Preventive Oncology. 16: 2237-46. PMID 18006912 DOI: 10.1158/1055-9965.EPI-07-0589  0.36
2007 Weedon MN, Lettre G, Freathy RM, Lindgren CM, Voight BF, Perry JR, Elliott KS, Hackett R, Guiducci C, Shields B, Zeggini E, Lango H, Lyssenko V, Timpson NJ, Burtt NP, ... ... Hirschhorn JN, et al. A common variant of HMGA2 is associated with adult and childhood height in the general population. Nature Genetics. 39: 1245-50. PMID 17767157 DOI: 10.1038/ng2121  0.36
2007 Newton-Cheh C, Guo CY, Larson MG, Musone SL, Surti A, Camargo AL, Drake JA, Benjamin EJ, Levy D, D'Agostino RB, Hirschhorn JN, O'donnell CJ. Common genetic variation in KCNH2 is associated with QT interval duration: the Framingham Heart Study. Circulation. 116: 1128-36. PMID 17709632 DOI: 10.1161/CIRCULATIONAHA.107.710780  0.36
2007 Chanock SJ, Manolio T, Boehnke M, Boerwinkle E, Hunter DJ, Thomas G, Hirschhorn JN, Abecasis G, Altshuler D, Bailey-Wilson JE, Brooks LD, Cardon LR, Daly M, Donnelly P, et al. Replicating genotype-phenotype associations. Nature. 447: 655-60. PMID 17554299 DOI: 10.1038/447655a  0.36
2007 Ingelsson E, Larson MG, Vasan RS, O'Donnell CJ, Yin X, Hirschhorn JN, Newton-Cheh C, Drake JA, Musone SL, Heard-Costa NL, Benjamin EJ, Levy D, Atwood LD, Wang TJ, Kathiresan S. Heritability, linkage, and genetic associations of exercise treadmill test responses. Circulation. 115: 2917-24. PMID 17548724 DOI: 10.1161/CIRCULATIONAHA.106.683821  0.36
2007 Lettre G, Butler JL, Ardlie KG, Hirschhorn JN. Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation Human Genetics. 122: 129-139. PMID 17546465 DOI: 10.1007/s00439-007-0385-4  0.36
2007 Lyon HN, Emilsson V, Hinney A, Heid IM, Lasky-Su J, Zhu X, Thorleifsson G, Gunnarsdottir S, Walters GB, Thorsteinsdottir U, Kong A, Gulcher J, Nguyen TT, Scherag A, Pfeufer A, ... ... Hirschhorn JN, et al. The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts. Plos Genetics. 3: e61. PMID 17465681 DOI: 10.1371/journal.pgen.0030061  0.36
2007 Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, Roix JJ, Kathiresan S, Hirschhorn JN, Daly MJ, Hughes TE, Groop L, Altshuler D, Almgren P, et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (New York, N.Y.). 316: 1331-6. PMID 17463246 DOI: 10.1126/science.1142358  0.36
2007 Florez JC, Sjögren M, Agapakis CM, Burtt NP, Almgren P, Lindblad U, Berglund G, Tuomi T, Gaudet D, Daly MJ, Ardlie KG, Hirschhorn JN, Altshuler D, Groop L. Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetes. Diabetologia. 50: 1209-17. PMID 17443311 DOI: 10.1007/s00125-007-0657-5  0.36
2007 Mitchell GF, Guo CY, Kathiresan S, Vasan RS, Larson MG, Vita JA, Keyes MJ, Vyas M, Newton-Cheh C, Musone SL, Camargo AL, Drake JA, Levy D, O'Donnell CJ, Hirschhorn JN, et al. Vascular stiffness and genetic variation at the endothelial nitric oxide synthase locus: the Framingham Heart study. Hypertension. 49: 1285-90. PMID 17404185 DOI: 10.1161/HYPERTENSIONAHA.106.085266  0.36
2007 Lettre G, Lange C, Hirschhorn JN. Genetic model testing and statistical power in population-based association studies of quantitative traits Genetic Epidemiology. 31: 358-362. PMID 17352422 DOI: 10.1002/gepi.20217  0.36
2007 Winckler W, Weedon MN, Graham RR, McCarroll SA, Purcell S, Almgren P, Tuomi T, Gaudet D, Boström KB, Walker M, Hitman G, Hattersley AT, McCarthy MI, Ardlie KG, Hirschhorn JN, et al. Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes. 56: 685-93. PMID 17327436 DOI: 10.2337/db06-0202  0.36
2007 Gallagher CJ, Keene KL, Mychaleckyj JC, Langefeld CD, Hirschhorn JN, Henderson BE, Gordon CJ, Freedman BI, Rich SS, Bowden DW, Sale MM. Investigation of the estrogen receptor-alpha gene with type 2 diabetes and/or nephropathy in African-American and European-American populations. Diabetes. 56: 675-84. PMID 17327435 DOI: 10.2337/db06-0303  0.36
2007 Campbell CD, Lyon HN, Nemesh J, Drake JA, Tuomi T, Gaudet D, Zhu X, Cooper RS, Ardlie KG, Groop LC, Hirschhorn JN. 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. 56: 1460-7. PMID 17325259 DOI: 10.2337/db06-1051  0.36
2007 Haiman CA, Dossus L, Setiawan VW, Stram DO, Dunning AM, Thomas G, Thun MJ, Albanes D, Altshuler D, Ardanaz E, Boeing H, Buring J, Burtt N, Calle EE, Chanock S, ... ... Hirschhorn JN, et al. Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women. Cancer Research. 67: 1893-7. PMID 17325027 DOI: 10.1158/0008-5472.CAN-06-4123  0.36
2007 Newton-Cheh C, Guo CY, Gona P, Larson MG, Benjamin EJ, Wang TJ, Kathiresan S, O'Donnell CJ, Musone SL, Camargo AL, Drake JA, Levy D, Hirschhorn JN, Vasan RS. Clinical and genetic correlates of aldosterone-to-renin ratio and relations to blood pressure in a community sample. Hypertension. 49: 846-56. PMID 17296870 DOI: 10.1161/01.HYP.0000258554.87444.91  0.36
2006 Florez JC, Saxena R, Winckler W, Burtt NP, Almgren P, Bengtsson Boström K, Tuomi T, Gaudet D, Ardlie KG, Daly MJ, Altshuler D, Hirschhorn JN, Groop L. The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people. Diabetes. 55: 3620-4. PMID 17130512 DOI: 10.2337/db06-0867  0.36
2006 Lyon HN, Florez JC, Bersaglieri T, Saxena R, Winckler W, Almgren P, Lindblad U, Tuomi T, Gaudet D, Zhu X, Cooper R, Ardlie KG, Daly MJ, Altshuler D, Groop L, ... Hirschhorn JN, et al. Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity. Diabetes. 55: 3180-4. PMID 17065359 DOI: 10.2337/db06-0407  0.36
2006 de Bakker PI, Burtt NP, Graham RR, Guiducci C, Yelensky R, Drake JA, Bersaglieri T, Penney KL, Butler J, Young S, Onofrio RC, Lyon HN, Stram DO, Haiman CA, Freedman ML, ... ... Hirschhorn JN, et al. Transferability of tag SNPs in genetic association studies in multiple populations. Nature Genetics. 38: 1298-303. PMID 17057720 DOI: 10.1038/ng1899  0.36
2006 Saxena R, Gianniny L, Burtt NP, Lyssenko V, Giuducci C, Sjögren M, Florez JC, Almgren P, Isomaa B, Orho-Melander M, Lindblad U, Daly MJ, Tuomi T, Hirschhorn JN, Ardlie KG, et al. Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals. Diabetes. 55: 2890-5. PMID 17003358 DOI: 10.2337/db06-0381  0.36
2006 Banerjee I, Trueman JA, Hall CM, Price DA, Patel L, Whatmore AJ, Hirschhorn JN, Read AP, Palmert MR, Clayton PE. Phenotypic variation in constitutional delay of growth and puberty: relationship to specific leptin and leptin receptor gene polymorphisms. European Journal of Endocrinology / European Federation of Endocrine Societies. 155: 121-6. PMID 16793957 DOI: 10.1530/eje.1.02184  0.36
2006 Saxena R, de Bakker PI, Singer K, Mootha V, Burtt N, Hirschhorn JN, Gaudet D, Isomaa B, Daly MJ, Groop L, Ardlie KG, Altshuler D. Comprehensive association testing of common mitochondrial DNA variation in metabolic disease. American Journal of Human Genetics. 79: 54-61. PMID 16773565 DOI: 10.1086/504926  0.36
2006 Morita H, Larson MG, Barr SC, Vasan RS, O'Donnell CJ, Hirschhorn JN, Levy D, Corey D, Seidman CE, Seidman JG, Benjamin EJ. Single-gene mutations and increased left ventricular wall thickness in the community: The Framingham Heart Study Circulation. 113: 2697-2705. PMID 16754800 DOI: 10.1161/CIRCULATIONAHA.105.593558  0.36
2006 Levy D, DePalma SR, Benjamin EJ, O'Donnell CJ, Parise H, Hirschhorn JN, Vasan RS, Izumo S, Larson MG. Phenotype-genotype association grid: A convenient method for summarizing multiple association analyses Bmc Genetics. 7. PMID 16716207 DOI: 10.1186/1471-2156-7-30  0.36
2006 Arking DE, Pfeufer A, Post W, Kao WH, Newton-Cheh C, Ikeda M, West K, Kashuk C, Akyol M, Perz S, Jalilzadeh S, Illig T, Gieger C, Guo CY, Larson MG, ... ... Hirschhorn JN, et al. A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nature Genetics. 38: 644-51. PMID 16648850 DOI: 10.1038/ng1790  0.36
2006 Kathiresan S, Yang Q, Larson MG, Camargo AL, Tofler GH, Hirschhorn JN, Gabriel SB, O'Donnell CJ. Common genetic variation in five thrombosis genes and relations to plasma hemostatic protein level and cardiovascular disease risk Arteriosclerosis, Thrombosis, and Vascular Biology. 26: 1405-1412. PMID 16614319 DOI: 10.1161/01.ATV.0000222011.13026.25  0.36
2006 Herbert A, Gerry NP, McQueen MB, Heid IM, Pfeufer A, Illig T, Wichmann HE, Meitinger T, Hunter D, Hu FB, Colditz G, Hinney A, Hebebrand J, Koberwitz K, Zhu X, ... ... Hirschhorn JN, et al. A common genetic variant is associated with adult and childhood obesity. Science (New York, N.Y.). 312: 279-83. PMID 16614226 DOI: 10.1126/science.1124779  0.36
2006 Kathiresan S, Larson MG, Vasan RS, Guo CY, Gona P, Keaney JF, Wilson PW, Newton-Cheh C, Musone SL, Camargo AL, Drake JA, Levy D, O'Donnell CJ, Hirschhorn JN, Benjamin EJ. Contribution of clinical correlates and 13 C-reactive protein gene polymorphisms to interindividual variability in serum C-reactive protein level. Circulation. 113: 1415-23. PMID 16534007 DOI: 10.1161/CIRCULATIONAHA.105.591271  0.36
2006 Sun MW, Lee JY, de Bakker PI, Burtt NP, Almgren P, RÃ¥stam L, Tuomi T, Gaudet D, Daly MJ, Hirschhorn JN, Altshuler D, Groop L, Florez JC. 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. 55: 849-55. PMID 16505254  0.36
2006 Feigelson HS, Cox DG, Cann HM, Wacholder S, Kaaks R, Henderson BE, Albanes D, Altshuler D, Berglund G, Berrino F, Bingham S, Buring JE, Burtt NP, Calle EE, Chanock SJ, ... ... Hirschhorn JN, et al. Haplotype analysis of the HSD17B1 gene and risk of breast cancer: a comprehensive approach to multicenter analyses of prospective cohort studies. Cancer Research. 66: 2468-75. PMID 16489054 DOI: 10.1158/0008-5472.CAN-05-3574  0.36
2006 Drake JA, Bird C, Nemesh J, Thomas DJ, Newton-Cheh C, Reymond A, Excoffier L, Attar H, Antonarakis SE, Dermitzakis ET, Hirschhorn JN. Conserved noncoding sequences are selectively constrained and not mutation cold spots. Nature Genetics. 38: 223-7. PMID 16380714 DOI: 10.1038/ng1710  0.36
2006 Florez JC, Wiltshire S, Agapakis CM, Burtt NP, de Bakker PI, Almgren P, Bengtsson Boström K, Tuomi T, Gaudet D, Daly MJ, Hirschhorn JN, McCarthy MI, Altshuler D, Groop L. High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people. Diabetes. 55: 128-35. PMID 16380485 DOI: 10.2337/diabetes.55.1.128  0.36
2005 Hirschhorn JN. Genetic and genomic approaches to studying stature and pubertal timing Pediatric Endocrinology Reviews. 2: 351-354. PMID 16456504  0.36
2005 Kraft P, Pharoah P, Chanock SJ, Albanes D, Kolonel LN, Hayes RB, Altshuler D, Andriole G, Berg C, Boeing H, Burtt NP, Bueno-de-Mesquita B, Calle EE, Cann H, Canzian F, ... ... Hirschhorn JN, et al. Genetic variation in the HSD17B1 gene and risk of prostate cancer. Plos Genetics. 1: e68. PMID 16311626 DOI: 10.1371/journal.pgen.0010068  0.36
2005 Kathiresan S, Gabriel SB, Yang Q, Lochner AL, Larson MG, Levy D, Tofler GH, Hirschhorn JN, O'Donnell CJ. Comprehensive survey of common genetic variation at the plasminogen activator inhibitor-1 locus and relations to circulating plasminogen activator inhibitor-1 levels Circulation. 112: 1728-1735. PMID 16172282 DOI: 10.1161/CIRCULATIONAHA.105.547836  0.36
2005 Kathiresan S, Larson MG, Vasan RS, Guo CY, Vita JA, Mitchell GF, Keyes MJ, Newton-Cheh C, Musone SL, Lochner AL, Drake JA, Levy D, O'Donnell CJ, Hirschhorn JN, Benjamin EJ. Common genetic variation at the endothelial nitric oxide synthase locus and relations to brachial artery vasodilator function in the community. Circulation. 112: 1419-27. PMID 16129794 DOI: 10.1161/CIRCULATIONAHA.105.544619  0.36
2005 McDermott DH, Yang Q, Kathiresan S, Cupples LA, Massaro JM, Keaney JF, Larson MG, Vasan RS, Hirschhorn JN, O'Donnell CJ, Murphy PM, Benjamin EJ. CCL2 polymorphisms are associated with serum monocyte chemoattractant protein-1 levels and myocardial infarction in the Framingham Heart Study Circulation. 112: 1113-1120. PMID 16116069 DOI: 10.1161/CIRCULATIONAHA.105.543579  0.36
2005 Winckler W, Burtt NP, Holmkvist J, Cervin C, de Bakker PI, Sun M, Almgren P, Tuomi T, Gaudet D, Hudson TJ, Ardlie KG, Daly MJ, Hirschhorn JN, Altshuler D, Groop L. Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes. Diabetes. 54: 2336-42. PMID 16046299 DOI: 10.2337/diabetes.54.8.2336  0.36
2005 Campbell CD, Ogburn EL, Lunetta KL, Lyon HN, Freedman ML, Groop LC, Altshuler D, Ardlie KG, Hirschhorn JN. Demonstrating stratification in a European American population. Nature Genetics. 37: 868-72. PMID 16041375 DOI: 10.1038/ng1607  0.36
2005 Lyon HN, Hirschhorn JN. Genetics of common forms of obesity: a brief overview The American Journal of Clinical Nutrition. 82. PMID 16002823  0.36
2005 Wang Q, Rao S, Topol EJ, Weng L, Cohen J, McPherson R, Pennacchio LA, Altshuler D, Hirschhorn JN. Miscues on the "lack of MEF2A mutations" in coronary artery disease (multiple letters) Journal of Clinical Investigation. 115: 1399-1401. PMID 15931371 DOI: 10.1172/JCI25475  0.36
2005 Florez JC, Agapakis CM, Burtt NP, Sun M, Almgren P, RÃ¥stam L, Tuomi T, Gaudet D, Hudson TJ, Daly MJ, Ardlie KG, Hirschhorn JN, Groop L, Altshuler D. Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people. Diabetes. 54: 1884-91. PMID 15919813 DOI: 10.2337/diabetes.54.6.1884  0.36
2005 Altshuler D, Hirschhorn JN. MEF2A sequence variants and coronary artery disease: a change of heart? The Journal of Clinical Investigation. 115: 831-3. PMID 15841171 DOI: 10.1172/JCI24715  0.36
2005 Newton-Cheh C, Hirschhorn JN. Genetic association studies of complex traits: Design and analysis issues Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis. 573: 54-69. PMID 15829237 DOI: 10.1016/j.mrfmmm.2005.01.006  0.36
2005 Hirschhorn JN. Genetic approaches to studying common diseases and complex traits Pediatric Research. 57. PMID 15817501  0.36
2005 Winckler W, Graham RR, de Bakker PI, Sun M, Almgren P, Tuomi T, Gaudet D, Hudson TJ, Ardlie KG, Daly MJ, Hirschhorn JN, Groop L, Altshuler D. Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people. Diabetes. 54: 886-92. PMID 15734869 DOI: 10.2337/diabetes.54.3.886  0.36
2005 Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits Nature Reviews Genetics. 6: 95-108. PMID 15716906 DOI: 10.1038/nrg1521  0.36
2005 Pearce CL, Hirschhorn JN, Wu AH, Burtt NP, Stram DO, Young S, Kolonel LN, Henderson BE, Altshuler D, Pike MC. Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis. Journal of the National Cancer Institute. 97: 51-9. PMID 15632380 DOI: 10.1093/jnci/dji007  0.36
2005 Freedman ML, Pearce CL, Penney KL, Hirschhorn JN, Kolonel LN, Henderson BE, Altshuler D. Systematic evaluation of genetic variation at the androgen receptor locus and risk of prostate cancer in a multiethnic cohort study. American Journal of Human Genetics. 76: 82-90. PMID 15570555 DOI: 10.1086/427224  0.36
2005 Sedlmeyer IL, Pearce CL, Trueman JA, Butler JL, Bersaglieri T, Read AP, Clayton PE, Kolonel LN, Henderson BE, Hirschhorn JN, Palmert MR. Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: investigation of role in pubertal timing. The Journal of Clinical Endocrinology and Metabolism. 90: 1091-9. PMID 15546906 DOI: 10.1210/jc.2004-0649  0.36
2004 Goldstein DB, Hirschhorn JN. In genetic control of disease, does 'race' matter? Nature Genetics. 36: 1243-1244. PMID 15565101 DOI: 10.1038/ng1204-1243  0.36
2004 Florez JC, Sjögren M, Burtt N, Orho-Melander M, Schayer S, Sun M, Almgren P, Lindblad U, Tuomi T, Gaudet D, Hudson TJ, Daly MJ, Ardlie KG, Hirschhorn JN, Altshuler D, et al. Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes. Diabetes. 53: 3313-8. PMID 15561965 DOI: 10.2337/diabetes.53.12.3313  0.36
2004 Freedman ML, Penney KL, Stram DO, Le Marchand L, Hirschhorn JN, Kolonel LN, Altshuler D, Henderson BE, Haiman CA. Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort. Human Molecular Genetics. 13: 2431-41. PMID 15317758 DOI: 10.1093/hmg/ddh270  0.36
2004 Bersaglieri T, Sabeti PC, Patterson N, Vanderploeg T, Schaffner SF, Drake JA, Rhodes M, Reich DE, Hirschhorn JN. Genetic signatures of strong recent positive selection at the lactase gene. American Journal of Human Genetics. 74: 1111-20. PMID 15114531 DOI: 10.1086/421051  0.36
2004 Florez JC, Burtt N, de Bakker PI, Almgren P, Tuomi T, Holmkvist J, Gaudet D, Hudson TJ, Schaffner SF, Daly MJ, Hirschhorn JN, Groop L, Altshuler D. Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes. 53: 1360-8. PMID 15111507 DOI: 10.2337/diabetes.53.5.1360  0.36
2004 Freedman ML, Reich D, Penney KL, McDonald GJ, Mignault AA, Patterson N, Gabriel SB, Topol EJ, Smoller JW, Pato CN, Pato MT, Petryshen TL, Kolonel LN, Lander ES, Sklar P, ... ... Hirschhorn JN, et al. Assessing the impact of population stratification on genetic association studies. Nature Genetics. 36: 388-93. PMID 15052270 DOI: 10.1038/ng1333  0.36
2004 Nathan BM, Hirschhorn JN, Palmert MR. Strategies for studying complex genetic traits Endocrinologist. 14: 346-352. DOI: 10.1097/01.ten.0000146242.75018.a9  0.36
2004 Damian D, Gorfine M, Mootha VK, Daly MJ, Patterson N, Hirschhorn JN, Groop LC, Altshuler D. Statistical concerns about the GSEA procedure [1] (multiple letters) Nature Genetics. 36: 663.  0.36
2003 Hirschhorn JN. Genetic epidemiology of type 1 diabetes Pediatric Diabetes. 4: 87-100. PMID 14655265 DOI: 10.1034/j.1399-5448.2001.00013.x  0.36
2003 Palmert MR, Hirschhorn JN. Genetic approaches to stature, pubertal timing, and other complex traits. Molecular Genetics and Metabolism. 80: 1-10. PMID 14567953 DOI: 10.1016/S1096-7192(03)00107-0  0.36
2003 Stram DO, Leigh Pearce C, Bretsky P, Freedman M, Hirschhorn JN, Altshuler D, Kolonel LN, Henderson BE, Thomas DC. Modeling and E-M estimation of haplotype-specific relative risks from genotype data for a case-control study of unrelated individuals. Human Heredity. 55: 179-90. PMID 14566096 DOI: 10.1159/000073202  0.36
2003 Stram DO, Haiman CA, Hirschhorn JN, Altshuler D, Kolonel LN, Henderson BE, Pike MC. Choosing haplotype-tagging SNPS based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study. Human Heredity. 55: 27-36. PMID 12890923 DOI: 10.1159/000071807  0.36
2003 Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, Puigserver P, Carlsson E, RidderstrÃ¥le M, Laurila E, Houstis N, Daly MJ, Patterson N, Mesirov JP, Golub TR, ... ... Hirschhorn JN, et al. PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nature Genetics. 34: 267-73. PMID 12808457 DOI: 10.1038/ng1180  0.36
2003 Grand RJ, Montgomery RK, Chitkara DK, Hirschhorn JN. Changing genes; losing lactase Gut. 52: 617-619. PMID 12692040 DOI: 10.1136/gut.52.5.617  0.36
2003 Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nature Genetics. 33: 177-82. PMID 12524541 DOI: 10.1038/ng1071  0.36
2002 Sedlmeyer IL, Hirschhorn JN, Palmert MR. Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns. The Journal of Clinical Endocrinology and Metabolism. 87: 5581-6. PMID 12466356 DOI: 10.1210/jc.2002-020862  0.36
2002 Cowles CR, Hirschhorn JN, Altshuler D, Lander ES. Detection of regulatory variation in mouse genes. Nature Genetics. 32: 432-7. PMID 12410233 DOI: 10.1038/ng992  0.36
2002 Hirschhorn JN, Altshuler D. Once and again-issues surrounding replication in genetic association studies. The Journal of Clinical Endocrinology and Metabolism. 87: 4438-41. PMID 12364414 DOI: 10.1210/jc.2002-021329  0.36
2002 Engert JC, Vohl MC, Williams SM, Lepage P, Loredo-Osti JC, Faith J, Doré C, Renaud Y, Burtt NP, Villeneuve A, Hirschhorn JN, Altshuler D, Groop LC, Després JP, Gaudet D, et al. 5' flanking variants of resistin are associated with obesity. Diabetes. 51: 1629-34. PMID 11978666  0.36
2002 Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K. A comprehensive review of genetic association studies Genetics in Medicine. 4: 45-61. DOI: 10.1097/00125817-200203000-00002  0.36
2001 Hirschhorn JN, Lindgren CM, Daly MJ, Kirby A, Schaffner SF, Burtt NP, Altshuler D, Parker A, Rioux JD, Platko J, Gaudet D, Hudson TJ, Groop LC, Lander ES. Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. American Journal of Human Genetics. 69: 106-16. PMID 11410839 DOI: 10.1086/321287  0.36
2001 Lindgren CM, Hirschhorn JN. The genetics of type 2 diabetes Endocrinologist. 11: 178-187.  0.36
2000 Hirschhorn JN, Sklar P, Lindblad-Toh K, Lim YM, Ruiz-Gutierrez M, Bolk S, Langhorst B, Schaffner S, Winchester E, Lander ES. SBE-TAGS: an array-based method for efficient single-nucleotide polymorphism genotyping. Proceedings of the National Academy of Sciences of the United States of America. 97: 12164-9. PMID 11035790 DOI: 10.1073/pnas.210394597  0.36
2000 Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, Nemesh J, Lane CR, Schaffner SF, Bolk S, Brewer C, Tuomi T, Gaudet D, Hudson TJ, Daly M, Groop L, et al. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nature Genetics. 26: 76-80. PMID 10973253 DOI: 10.1038/79216  0.36
2000 Lindblad-Toh K, Winchester E, Daly MJ, Wang DG, Hirschhorn JN, Laviolette JP, Ardlie K, Reich DE, Robinson E, Sklar P, Shah N, Thomas D, Fan JB, Gingeras T, Warrington J, et al. Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse. Nature Genetics. 24: 381-6. PMID 10742102 DOI: 10.1038/74215  0.36
1999 Altshuler D, Hirschhorn JN. Upsetting the balance: VGF and the regulation of body weight. Neuron. 23: 415-7. PMID 10433252 DOI: 10.1016/S0896-6273(00)80793-X  0.36
1999 Sklar P, Altshuler D, Cargill M, Hirschhorn JN. DNA microarrays for polymorphism detection and genotyping: Utility in the understanding of complex neuropsychiatric diseases Cns Spectrums. 4: 59-74.  0.36
1995 Hirschhorn JN, Bortvin AL, Ricupero-Hovasse SL, Winston F. A new class of histone H2A mutations in Saccharomyces cerevisiae causes specific transcriptional defects in vivo Molecular and Cellular Biology. 15: 1999-2009. PMID 7891695  0.36
1992 Hirschhorn JN, Brown SA, Clark CD, Winston F. Evidence that SNF2/SWI2 and SNF5 activate transcription in yeast by altering chromatin structure Genes and Development. 6: 2288-2298. PMID 1459453  0.36
1988 Hirschhorn JN, Winston F. SPT3 is required for normal levels of a-factor and alpha-factor expression in Saccharomyces cerevisiae Molecular and Cellular Biology. 8: 822-827. PMID 3127692  0.36
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