Joel Hirschhorn MD PhD

Joel Hirschhorn, MD, PhD

Director, Center for Basic and Translational Obesity Research

Concordia Professor of Pediatrics and Professor of Genetics

  • Contact: 617-919-2129

  • Fax: 617-730-0244

Medical Services

Departments

  • Endocrinology
  • Medicine

Programs

  • Endocrinology Program
To schedule an appointment: Call 617-919-2129

Experience and Education

Education

Medical School

Harvard Medical School, 1995

Boston, MA

Graduate School, PhD in Genetics

Harvard School of Arts and Sciences, 1995

Boston, MA

Pediatric Endocrinology Fellowship

Boston Children's Hospital, 2000

Boston, MA

Pediatric Internship

Boston Children's Hospital, 1996

Boston, MA

Pediatric Residency

Boston Children's Hospital, 1997

Boston, MA

Certifications

  • Pediatric Endocrinology

Research

Genomics and Complex Trait Genetics

Publications

Publications powered by Harvard Catalyst Profiles
  1. 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, Tanaka T, Arking DE, Ulivi S, Trompet S, Müller-Nurasyid M, Smith AV, Dörr M, Kerr KF, Magnani JW, Del Greco M F, Zhang W, Nolte IM, Silva CT, Padmanabhan S, Tragante V, Esko T, Abecasis GR, Adriaens ME, Andersen K, Barnett P, Bis JC, Bodmer R, Buckley BM, Campbell H, Cannon MV, Chakravarti A, Chen LY, Delitala A, Devereux RB, Doevendans PA, Dominiczak AF, Ferrucci L, Ford I, Gieger C, Harris TB, Haugen E, Heinig M, Hernandez DG, Hillege HL, Hirschhorn JN, Hofman A, Hubner N, Hwang SJ, Iorio A, Kähönen M, Kellis M, Kolcic I, Kooner IK, Kooner JS, Kors JA, Lakatta EG, Lage K, Launer LJ, Levy D, Lundby A, Macfarlane PW, May D, Meitinger T, Metspalu A, Nappo S, Naitza S, Neph S, Nord AS, Nutile T, Okin PM, Olsen JV, Oostra BA, Penninger JM, Pennacchio LA, Pers TH, Perz S, Peters A, Pinto YM, Pfeufer A, Pilia MG, Pramstaller PP, Prins BP, Raitakari OT, Raychaudhuri S, Rice KM, Rossin EJ, Rotter JI, Schafer S, Schlessinger D, Schmidt CO, Sehmi J, Silljé HH, Sinagra G, Sinner MF, Slowikowski K, Soliman EZ, Spector TD, Spiering W, Stamatoyannopoulos JA, Stolk RP, Strauch K, Tan ST, Tarasov KV, Trinh B, Uitterlinden AG, van den Boogaard M, van Duijn CM, van Gilst WH, Viikari JS, Visscher PM, Vitart V, Völker U, Waldenberger M, Weichenberger CX, Westra HJ, Wijmenga C, Wolffenbuttel BH, Yang J, Bezzina CR, Munroe PB, Snieder H, Wright AF, Rudan I, Boyer LA, Asselbergs FW, van Veldhuisen DJ, Stricker BH, Psaty BM, Ciullo M, Sanna S, Lehtimäki T, Wilson JF, Bandinelli S, Alonso A, Gasparini P, Jukema JW, Kääb S, Gudnason V, Felix SB, Heckbert SR, de Boer RA, Newton-Cheh C, Hicks AA, Chambers JC, Jamshidi Y, Visel A, Christoffels VM, Isaacs A, Samani NJ, de Bakker PI. 52 Genetic Loci Influencing Myocardial Mass. J Am Coll Cardiol. 2016 Sep 27; 68(13):1435-48.
  2. Guo MH, Dauber A, Lippincott MF, Chan YM, Salem RM, Hirschhorn JN. Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders. Am J Hum Genet. 2016 Sep 1; 99(3):527-39.
  3. 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, Yanek LR, Manichaikul A, Pazoki R, Mihailov E, Hill WD, Raffield LM, Burt A, Bartz TM, Becker DM, Becker LC, Boerwinkle E, Bork-Jensen J, Bottinger EP, O'Donoghue ML, Crosslin DR, de Denus S, Dubé MP, Elliott P, Engström G, Evans MK, Floyd JS, Fornage M, Gao H, Greinacher A, Gudnason V, Hansen T, Harris TB, Hayward C, Hernesniemi J, Highland HM, Hirschhorn JN, Hofman A, Irvin MR, Kähönen M, Lange E, Launer LJ, Lehtimäki T, Li J, Liewald DC, Linneberg A, Liu Y, Lu Y, Lyytikäinen LP, Mägi R, Mathias RA, Melander O, Metspalu A, Mononen N, Nalls MA, Nickerson DA, Nikus K, O'Donnell CJ, Orho-Melander M, Pedersen O, Petersmann A, Polfus L, Psaty BM, Raitakari OT, Raitoharju E, Richard M, Rice KM, Rivadeneira F, Rotter JI, Schmidt F, Smith AV, Starr JM, Taylor KD, Teumer A, Thuesen BH, Torstenson ES, Tracy RP, Tzoulaki I, Zakai NA, Vacchi-Suzzi C, van Duijn CM, van Rooij FJ, Cushman M, Deary IJ, Velez Edwards DR, Vergnaud AC, Wallentin L, Waterworth DM, White HD, Wilson JG, Zonderman AB, Kathiresan S, Grarup N, Esko T, Loos RJ, Lange LA, Faraday N, Abumrad NA, Edwards TL, Ganesh SK, Auer PL, Johnson AD, Reiner AP, Lettre G. Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. Am J Hum Genet. 2016 Jul 7; 99(1):8-21.
  4. Eicher JD, Chami N, Kacprowski T, Nomura A, Chen MH, Yanek LR, Tajuddin SM, Schick UM, Slater AJ, Pankratz N, Polfus L, Schurmann C, Giri A, Brody JA, Lange LA, Manichaikul A, Hill WD, Pazoki R, Elliot P, Evangelou E, Tzoulaki I, Gao H, Vergnaud AC, Mathias RA, Becker DM, Becker LC, Burt A, Crosslin DR, Lyytikäinen LP, Nikus K, Hernesniemi J, Kähönen M, Raitoharju E, Mononen N, Raitakari OT, Lehtimäki T, Cushman M, Zakai NA, Nickerson DA, Raffield LM, Quarells R, Willer CJ, Peloso GM, Abecasis GR, Liu DJ, Deloukas P, Samani NJ, Schunkert H, Erdmann J, Fornage M, Richard M, Tardif JC, Rioux JD, Dube MP, de Denus S, Lu Y, Bottinger EP, Loos RJ, Smith AV, Harris TB, Launer LJ, Gudnason V, Velez Edwards DR, Torstenson ES, Liu Y, Tracy RP, Rotter JI, Rich SS, Highland HM, Boerwinkle E, Li J, Lange E, Wilson JG, Mihailov E, Mägi R, Hirschhorn J, Metspalu A, Esko T, Vacchi-Suzzi C, Nalls MA, Zonderman AB, Evans MK, Engström G, Orho-Melander M, Melander O, O'Donoghue ML, Waterworth DM, Wallentin L, White HD, Floyd JS, Bartz TM, Rice KM, Psaty BM, Starr JM, Liewald DC, Hayward C, Deary IJ, Greinacher A, Völker U, Thiele T, Völzke H, van Rooij FJ, Uitterlinden AG, Franco OH, Dehghan A, Edwards TL, Ganesh SK, Kathiresan S, Faraday N, Auer PL, Reiner AP, Lettre G, Johnson AD. Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. Am J Hum Genet. 2016 Jul 7; 99(1):40-55.
  5. 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, Polfus LM, Smith AV, Schurmann C, Vacchi-Suzzi C, Waterworth DM, Evangelou E, Yanek LR, Burt A, Chen MH, van Rooij FJ, Floyd JS, Greinacher A, Harris TB, Highland HM, Lange LA, Liu Y, Mägi R, Nalls MA, Mathias RA, Nickerson DA, Nikus K, Starr JM, Tardif JC, Tzoulaki I, Velez Edwards DR, Wallentin L, Bartz TM, Becker LC, Denny JC, Raffield LM, Rioux JD, Friedrich N, Fornage M, Gao H, Hirschhorn JN, Liewald DC, Rich SS, Uitterlinden A, Bastarache L, Becker DM, Boerwinkle E, de Denus S, Bottinger EP, Hayward C, Hofman A, Homuth G, Lange E, Launer LJ, Lehtimäki T, Lu Y, Metspalu A, O'Donnell CJ, Quarells RC, Richard M, Torstenson ES, Taylor KD, Vergnaud AC, Zonderman AB, Crosslin DR, Deary IJ, Dörr M, Elliott P, Evans MK, Gudnason V, Kähönen M, Psaty BM, Rotter JI, Slater AJ, Dehghan A, White HD, Ganesh SK, Loos RJ, Esko T, Faraday N, Wilson JG, Cushman M, Johnson AD, Edwards TL, Zakai NA, Lettre G, Reiner AP, Auer PL. 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 7; 99(1):22-39.
  6. 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. 2016; 352:i582.
  7. Boettger LM, Salem RM, Handsaker RE, Peloso GM, Kathiresan S, Hirschhorn JN, McCarroll SA. Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels. Nat Genet. 2016 Apr; 48(4):359-66.
  8. Lu Y, Day FR, Gustafsson S, Buchkovich ML, Na J, Bataille V, Cousminer DL, Dastani Z, Drong AW, Esko T, Evans DM, Falchi M, Feitosa MF, Ferreira T, Hedman ÅK, Haring R, Hysi PG, Iles MM, Justice AE, Kanoni S, Lagou V, Li R, Li X, Locke A, Lu C, Mägi R, Perry JR, Pers TH, Qi Q, Sanna M, Schmidt EM, Scott WR, Shungin D, Teumer A, Vinkhuyzen AA, Walker RW, Westra HJ, Zhang M, Zhang W, Zhao JH, Zhu Z, Afzal U, Ahluwalia TS, Bakker SJ, Bellis C, Bonnefond A, Borodulin K, Buchman AS, Cederholm T, Choh AC, Choi HJ, Curran JE, de Groot LC, De Jager PL, Dhonukshe-Rutten RA, Enneman AW, Eury E, Evans DS, Forsen T, Friedrich N, Fumeron F, Garcia ME, Gärtner S, Han BG, Havulinna AS, Hayward C, Hernandez D, Hillege H, Ittermann T, Kent JW, Kolcic I, Laatikainen T, Lahti J, Mateo Leach I, Lee CG, Lee JY, Liu T, Liu Y, Lobbens S, Loh M, Lyytikäinen LP, Medina-Gomez C, Michaëlsson K, Nalls MA, Nielson CM, Oozageer L, Pascoe L, Paternoster L, Polašek O, Ripatti S, Sarzynski MA, Shin CS, Narancic NS, Spira D, Srikanth P, Steinhagen-Thiessen E, Sung YJ, Swart KM, Taittonen L, Tanaka T, Tikkanen E, van der Velde N, van Schoor NM, Verweij N, Wright AF, Yu L, Zmuda JM, Eklund N, Forrester T, Grarup N, Jackson AU, Kristiansson K, Kuulasmaa T, Kuusisto J, Lichtner P, Luan J, Mahajan A, Männistö S, Palmer CD, Ried JS, Scott RA, Stancáková A, Wagner PJ, Demirkan A, Döring A, Gudnason V, Kiel DP, Kühnel B, Mangino M, Mcknight B, Menni C, O'Connell JR, Oostra BA, Shuldiner AR, Song K, Vandenput L, van Duijn CM, Vollenweider P, White CC, Boehnke M, Boettcher Y, Cooper RS, Forouhi NG, Gieger C, Grallert H, Hingorani A, Jørgensen T, Jousilahti P, Kivimaki M, Kumari M, Laakso M, Langenberg C, Linneberg A, Luke A, Mckenzie CA, Palotie A, Pedersen O, Peters A, Strauch K, Tayo BO, Wareham NJ, Bennett DA, Bertram L, Blangero J, Blüher M, Bouchard C, Campbell H, Cho NH, Cummings SR, Czerwinski SA, Demuth I, Eckardt R, Eriksson JG, Ferrucci L, Franco OH, Froguel P, Gansevoort RT, Hansen T, Harris TB, Hastie N, Heliövaara M, Hofman A, Jordan JM, Jula A, Kähönen M, Kajantie E, Knekt PB, Koskinen S, Kovacs P, Lehtimäki T, Lind L, Liu Y, Orwoll ES, Osmond C, Perola M, Pérusse L, Raitakari OT, Rankinen T, Rao DC, Rice TK, Rivadeneira F, Rudan I, Salomaa V, Sørensen TI, Stumvoll M, Tönjes A, Towne B, Tranah GJ, Tremblay A, Uitterlinden AG, van der Harst P, Vartiainen E, Viikari JS, Vitart V, Vohl MC, Völzke H, Walker M, Wallaschofski H, Wild S, Wilson JF, Yengo L, Bishop DT, Borecki IB, Chambers JC, Cupples LA, Dehghan A, Deloukas P, Fatemifar G, Fox C, Furey TS, Franke L, Han J, Hunter DJ, Karjalainen J, Karpe F, Kaplan RC, Kooner JS, McCarthy MI, Murabito JM, Morris AP, Bishop JA, North KE, Ohlsson C, Ong KK, Prokopenko I, Richards JB, Schadt EE, Spector TD, Widén E, Willer CJ, Yang J, Ingelsson E, Mohlke KL, Hirschhorn JN, Pospisilik JA, Zillikens MC, Lindgren C, Kilpeläinen TO, Loos RJ. New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk. Nat Commun. 2016; 7:10495.
  9. Pattaro C, Teumer A, Gorski M, Chu AY, Li M, Mijatovic V, Garnaas M, Tin A, Sorice R, Li Y, Taliun D, Olden M, Foster M, Yang Q, Chen MH, Pers TH, Johnson AD, Ko YA, Fuchsberger C, Tayo B, Nalls M, Feitosa MF, Isaacs A, Dehghan A, d'Adamo P, Adeyemo A, Dieffenbach AK, Zonderman AB, Nolte IM, van der Most PJ, Wright AF, Shuldiner AR, Morrison AC, Hofman A, Smith AV, Dreisbach AW, Franke A, Uitterlinden AG, Metspalu A, Tonjes A, Lupo A, Robino A, Johansson Å, Demirkan A, Kollerits B, Freedman BI, Ponte B, Oostra BA, Paulweber B, Krämer BK, Mitchell BD, Buckley BM, Peralta CA, Hayward C, Helmer C, Rotimi CN, Shaffer CM, Müller C, Sala C, van Duijn CM, Saint-Pierre A, Ackermann D, Shriner D, Ruggiero D, Toniolo D, Lu Y, Cusi D, Czamara D, Ellinghaus D, Siscovick DS, Ruderfer D, Gieger C, Grallert H, Rochtchina E, Atkinson EJ, Holliday EG, Boerwinkle E, Salvi E, Bottinger EP, Murgia F, Rivadeneira F, Ernst F, Kronenberg F, Hu FB, Navis GJ, Curhan GC, Ehret GB, Homuth G, Coassin S, Thun GA, Pistis G, Gambaro G, Malerba G, Montgomery GW, Eiriksdottir G, Jacobs G, Li G, Wichmann HE, Campbell H, Schmidt H, Wallaschofski H, Völzke H, Brenner H, Kroemer HK, Kramer H, Lin H, Leach IM, Ford I, Guessous I, Rudan I, Prokopenko I, Borecki I, Heid IM, Kolcic I, Persico I, Jukema JW, Wilson JF, Felix JF, Divers J, Lambert JC, Stafford JM, Gaspoz JM, Smith JA, Faul JD, Wang JJ, Ding J, Hirschhorn JN, Attia J, Whitfield JB, Chalmers J, Viikari J, Coresh J, Denny JC, Karjalainen J, Fernandes JK, Endlich K, Butterbach K, Keene KL, Lohman K, Portas L, Launer LJ, Lyytikäinen LP, Yengo L, Franke L, Ferrucci L, Rose LM, Kedenko L, Rao M, Struchalin M, Kleber ME, Cavalieri M, Haun M, Cornelis MC, Ciullo M, Pirastu M, de Andrade M, McEvoy MA, Woodward M, Adam M, Cocca M, Nauck M, Imboden M, Waldenberger M, Pruijm M, Metzger M, Stumvoll M, Evans MK, Sale MM, Kähönen M, Boban M, Bochud M, Rheinberger M, Verweij N, Bouatia-Naji N, Martin NG, Hastie N, Probst-Hensch N, Soranzo N, Devuyst O, Raitakari O, Gottesman O, Franco OH, Polasek O, Gasparini P, Munroe PB, Ridker PM, Mitchell P, Muntner P, Meisinger C, Smit JH, Kovacs P, Wild PS, Froguel P, Rettig R, Mägi R, Biffar R, Schmidt R, Middelberg RP, Carroll RJ, Penninx BW, Scott RJ, Katz R, Sedaghat S, Wild SH, Kardia SL, Ulivi S, Hwang SJ, Enroth S, Kloiber S, Trompet S, Stengel B, Hancock SJ, Turner ST, Rosas SE, Stracke S, Harris TB, Zeller T, Zemunik T, Lehtimäki T, Illig T, Aspelund T, Nikopensius T, Esko T, Tanaka T, Gyllensten U, Völker U, Emilsson V, Vitart V, Aalto V, Gudnason V, Chouraki V, Chen WM, Igl W, März W, Koenig W, Lieb W, Loos RJ, Liu Y, Snieder H, Pramstaller PP, Parsa A, O'Connell JR, Susztak K, Hamet P, Tremblay J, de Boer IH, Böger CA, Goessling W, Chasman DI, Köttgen A, Kao WH, Fox CS. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. Nat Commun. 2016; 7:10023.
  10. 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. Hum Mol Genet. 2016 Mar 15; 25(6):1247-54.
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  12. 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. Clin Pediatr (Phila). 2016 Oct; 55(12):1152-9.
  13. Felix JF, Bradfield JP, Monnereau C, van der Valk RJ, Stergiakouli E, Chesi A, Gaillard R, Feenstra B, Thiering E, Kreiner-Møller E, Mahajan A, Pitkänen N, Joro R, Cavadino A, Huikari V, Franks S, Groen-Blokhuis MM, Cousminer DL, Marsh JA, Lehtimäki T, Curtin JA, Vioque J, Ahluwalia TS, Myhre R, Price TS, Vilor-Tejedor N, Yengo L, Grarup N, Ntalla I, Ang W, Atalay M, Bisgaard H, Blakemore AI, Bonnefond A, Carstensen L, Eriksson J, Flexeder C, Franke L, Geller F, Geserick M, Hartikainen AL, Haworth CM, Hirschhorn JN, Hofman A, Holm JC, Horikoshi M, Hottenga JJ, Huang J, Kadarmideen HN, Kähönen M, Kiess W, Lakka HM, Lakka TA, Lewin AM, Liang L, Lyytikäinen LP, Ma B, Magnus P, McCormack SE, McMahon G, Mentch FD, Middeldorp CM, Murray CS, Pahkala K, Pers TH, Pfäffle R, Postma DS, Power C, Simpson A, Sengpiel V, Tiesler CM, Torrent M, Uitterlinden AG, van Meurs JB, Vinding R, Waage J, Wardle J, Zeggini E, Zemel BS, Dedoussis GV, Pedersen O, Froguel P, Sunyer J, Plomin R, Jacobsson B, Hansen T, Gonzalez JR, Custovic A, Raitakari OT, Pennell CE, Widén E, Boomsma DI, Koppelman GH, Sebert S, Järvelin MR, Hyppönen E, McCarthy MI, Lindi V, Harri N, Körner A, Bønnelykke K, Heinrich J, Melbye M, Rivadeneira F, Hakonarson H, Ring SM, Smith GD, Sørensen TI, Timpson NJ, Grant SF, Jaddoe VW. Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. Hum Mol Genet. 2016 Jan 15; 25(2):389-403.
  14. Lettre G, Hirschhorn JN. Small island, big genetic discoveries. Nat Genet. 2015 Nov; 47(11):1224-5.
  15. Giani FC, Fiorini C, Wakabayashi A, Ludwig LS, Salem RM, Jobaliya CD, Regan SN, Ulirsch JC, Liang G, Steinberg-Shemer O, Guo MH, Esko T, Tong W, Brugnara C, Hirschhorn JN, Weiss MJ, Zon LI, Chou ST, French DL, Musunuru K, Sankaran VG. Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells. Cell Stem Cell. 2016 Jan 7; 18(1):73-8.
  16. Winkler TW, Justice AE, Graff M, Barata L, Feitosa MF, Chu S, Czajkowski J, Esko T, Fall T, Kilpeläinen TO, Lu Y, Mägi R, Mihailov E, Pers TH, Rüeger S, Teumer A, Ehret GB, Ferreira T, Heard-Costa NL, Karjalainen J, Lagou V, Mahajan A, Neinast MD, Prokopenko I, Simino J, Teslovich TM, Jansen R, Westra HJ, White CC, Absher D, Ahluwalia TS, Ahmad S, Albrecht E, Alves AC, Bragg-Gresham JL, de Craen AJ, Bis JC, Bonnefond A, Boucher G, Cadby G, Cheng YC, Chiang CW, Delgado G, Demirkan A, Dueker N, Eklund N, Eiriksdottir G, Eriksson J, Feenstra B, Fischer K, Frau F, Galesloot TE, Geller F, Goel A, Gorski M, Grammer TB, Gustafsson S, Haitjema S, Hottenga JJ, Huffman JE, Jackson AU, Jacobs KB, Johansson Å, Kaakinen M, Kleber ME, Lahti J, Mateo Leach I, Lehne B, Liu Y, Lo KS, Lorentzon M, Luan J, Madden PA, Mangino M, McKnight B, Medina-Gomez C, Monda KL, Montasser ME, Müller G, Müller-Nurasyid M, Nolte IM, Panoutsopoulou K, Pascoe L, Paternoster L, Rayner NW, Renström F, Rizzi F, Rose LM, Ryan KA, Salo P, Sanna S, Scharnagl H, Shi J, Smith AV, Southam L, Stancáková A, Steinthorsdottir V, Strawbridge RJ, Sung YJ, Tachmazidou I, Tanaka T, Thorleifsson G, Trompet S, Pervjakova N, Tyrer JP, Vandenput L, van der Laan SW, van der Velde N, van Setten J, van Vliet-Ostaptchouk JV, Verweij N, Vlachopoulou E, Waite LL, Wang SR, Wang Z, Wild SH, Willenborg C, Wilson JF, Wong A, Yang J, Yengo L, Yerges-Armstrong LM, Yu L, Zhang W, Zhao JH, Andersson EA, Bakker SJ, Baldassarre D, Banasik K, Barcella M, Barlassina C, Bellis C, Benaglio P, Blangero J, Blüher M, Bonnet F, Bonnycastle LL, Boyd HA, Bruinenberg M, Buchman AS, Campbell H, Chen YD, Chines PS, Claudi-Boehm S, Cole J, Collins FS, de Geus EJ, de Groot LC, Dimitriou M, Duan J, Enroth S, Eury E, Farmaki AE, Forouhi NG, Friedrich N, Gejman PV, Gigante B, Glorioso N, Go AS, Gottesman O, Gräßler J, Grallert H, Grarup N, Gu YM, Broer L, Ham AC, Hansen T, Harris TB, Hartman CA, Hassinen M, Hastie N, Hattersley AT, Heath AC, Henders AK, Hernandez D, Hillege H, Holmen O, Hovingh KG, Hui J, Husemoen LL, Hutri-Kähönen N, Hysi PG, Illig T, De Jager PL, Jalilzadeh S, Jørgensen T, Jukema JW, Juonala M, Kanoni S, Karaleftheri M, Khaw KT, Kinnunen L, Kittner SJ, Koenig W, Kolcic I, Kovacs P, Krarup NT, Kratzer W, Krüger J, Kuh D, Kumari M, Kyriakou T, Langenberg C, Lannfelt L, Lanzani C, Lotay V, Launer LJ, Leander K, Lindström J, Linneberg A, Liu YP, Lobbens S, Luben R, Lyssenko V, Männistö S, Magnusson PK, McArdle WL, Menni C, Merger S, Milani L, Montgomery GW, Morris AP, Narisu N, Nelis M, Ong KK, Palotie A, Pérusse L, Pichler I, Pilia MG, Pouta A, Rheinberger M, Ribel-Madsen R, Richards M, Rice KM, Rice TK, Rivolta C, Salomaa V, Sanders AR, Sarzynski MA, Scholtens S, Scott RA, Scott WR, Sebert S, Sengupta S, Sennblad B, Seufferlein T, Silveira A, Slagboom PE, Smit JH, Sparsø TH, Stirrups K, Stolk RP, Stringham HM, Swertz MA, Swift AJ, Syvänen AC, Tan ST, Thorand B, Tönjes A, Tremblay A, Tsafantakis E, van der Most PJ, Völker U, Vohl MC, Vonk JM, Waldenberger M, Walker RW, Wennauer R, Widén E, Willemsen G, Wilsgaard T, Wright AF, Zillikens MC, van Dijk SC, van Schoor NM, Asselbergs FW, de Bakker PI, Beckmann JS, Beilby J, Bennett DA, Bergman RN, Bergmann S, Böger CA, Boehm BO, Boerwinkle E, Boomsma DI, Bornstein SR, Bottinger EP, Bouchard C, Chambers JC, Chanock SJ, Chasman DI, Cucca F, Cusi D, Dedoussis G, Erdmann J, Eriksson JG, Evans DA, de Faire U, Farrall M, Ferrucci L, Ford I, Franke L, Franks PW, Froguel P, Gansevoort RT, Gieger C, Grönberg H, Gudnason V, Gyllensten U, Hall P, Hamsten A, van der Harst P, Hayward C, Heliövaara M, Hengstenberg C, Hicks AA, Hingorani A, Hofman A, Hu F, Huikuri HV, Hveem K, James AL, Jordan JM, Jula A, Kähönen M, Kajantie E, Kathiresan S, Kiemeney LA, Kivimaki M, Knekt PB, Koistinen HA, Kooner JS, Koskinen S, Kuusisto J, Maerz W, Martin NG, Laakso M, Lakka TA, Lehtimäki T, Lettre G, Levinson DF, Lind L, Lokki ML, Mäntyselkä P, Melbye M, Metspalu A, et al. 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.
  17. Yu Y, Yao R, Wang L, Fan Y, Huang X, Hirschhorn J, Dauber A, Shen Y. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. BMC Genomics. 2015; 16:701.
  18. Hägg S, Ganna A, Van Der Laan SW, Esko T, Pers TH, Locke AE, Berndt SI, Justice AE, Kahali B, Siemelink MA, Pasterkamp G, Strachan DP, Speliotes EK, North KE, Loos RJ, Hirschhorn JN, Pawitan Y, Ingelsson E. Gene-based meta-analysis of genome-wide association studies implicates new loci involved in obesity. Hum Mol Genet. 2015 Dec 1; 24(23):6849-60.
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  138. 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, Daly MJ. Common body mass index-associated variants confer risk of extreme obesity. Hum Mol Genet. 2009 Sep 15; 18(18):3502-7.
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  143. Gajdos ZK, Hirschhorn JN, Palmert MR. What controls the timing of puberty? An update on progress from genetic investigation. Curr Opin Endocrinol Diabetes Obes. 2009 Feb; 16(1):16-24.
  144. 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. Hum Genet. 2009 Apr; 125(3):295-303.
  145. Dedoussis GV, Vidra N, Butler J, Papoutsakis C, Yannakoulia M, Hirschhorn JN, Lyon HN. Peroxisome proliferator-activated receptor-gamma (PPARgamma) Pro12Ala polymorphism and risk for pediatric obesity. Clin Chem Lab Med. 2009; 47(9):1047-50.
  146. Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, Lettre G, Lim N, Lyon HN, McCarroll SA, Papadakis K, Qi L, Randall JC, Roccasecca RM, Sanna S, Scheet P, Weedon MN, Wheeler E, Zhao JH, Jacobs LC, Prokopenko I, Soranzo N, Tanaka T, Timpson NJ, Almgren P, Bennett A, Bergman RN, Bingham SA, Bonnycastle LL, Brown M, Burtt NP, Chines P, Coin L, Collins FS, Connell JM, Cooper C, Smith GD, Dennison EM, Deodhar P, Elliott P, Erdos MR, Estrada K, Evans DM, Gianniny L, Gieger C, Gillson CJ, Guiducci C, Hackett R, Hadley D, Hall AS, Havulinna AS, Hebebrand J, Hofman A, Isomaa B, Jacobs KB, Johnson T, Jousilahti P, Jovanovic Z, Khaw KT, Kraft P, Kuokkanen M, Kuusisto J, Laitinen J, Lakatta EG, Luan J, Luben RN, Mangino M, McArdle WL, Meitinger T, Mulas A, Munroe PB, Narisu N, Ness AR, Northstone K, O'Rahilly S, Purmann C, Rees MG, Ridderstråle M, Ring SM, Rivadeneira F, Ruokonen A, Sandhu MS, Saramies J, Scott LJ, Scuteri A, Silander K, Sims MA, Song K, Stephens J, Stevens S, Stringham HM, Tung YC, Valle TT, Van Duijn CM, Vimaleswaran KS, Vollenweider P, Waeber G, Wallace C, Watanabe RM, Waterworth DM, Watkins N, Witteman JC, Zeggini E, Zhai G, Zillikens MC, Altshuler D, Caulfield MJ, Chanock SJ, Farooqi IS, Ferrucci L, Guralnik JM, Hattersley AT, Hu FB, Jarvelin MR, Laakso M, Mooser V, Ong KK, Ouwehand WH, Salomaa V, Samani NJ, Spector TD, Tuomi T, Tuomilehto J, Uda M, Uitterlinden AG, Wareham NJ, Deloukas P, Frayling TM, Groop LC, Hayes RB, Hunter DJ, Mohlke KL, Peltonen L, Schlessinger D, Strachan DP, Wichmann HE, McCarthy MI, Boehnke M, Barroso I, Abecasis GR, Hirschhorn JN. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet. 2009 Jan; 41(1):25-34.
  147. 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. 2008 Dec 19; 322(5909):1839-42.
  148. 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, Li M, Derohannessian S, de Bakker PI, Bailey SD, Montpetit A, Edmondson AC, Taylor K, Gai X, Wang SS, Fornage M, Shaikh T, Groop L, Boehnke M, Hall AS, Hattersley AT, Frackelton E, Patterson N, Chiang CW, Kim CE, Fabsitz RR, Ouwehand W, Price AL, Munroe P, Caulfield M, Drake T, Boerwinkle E, Reich D, Whitehead AS, Cappola TP, Samani NJ, Lusis AJ, Schadt E, Wilson JG, Koenig W, McCarthy MI, Kathiresan S, Gabriel SB, Hakonarson H, Anand SS, Reilly M, Engert JC, Nickerson DA, Rader DJ, Hirschhorn JN, Fitzgerald GA. 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.
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  153. 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, Saxena R, de Bakker PI, Burtt N, Voight BF, Hirschhorn JN, Tucker KL, Hedner T, Tuomi T, Isomaa B, Eriksson KF, Taskinen MR, Wahlstrand B, Hughes TE, Parnell LD, Lai CQ, Berglund G, Peltonen L, Vartiainen E, Jousilahti P, Havulinna AS, Salomaa V, Nilsson P, Groop L, Altshuler D, Ordovas JM, Kathiresan S. 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.
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  155. 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. J Gastroenterol Hepatol. 2008 Jun; 23(6):894-9.
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  160. Lasky-Su J, Lyon HN, Emilsson V, Heid IM, Molony C, Raby BA, Lazarus R, Klanderman B, Soto-Quiros ME, Avila L, Silverman EK, Thorleifsson G, Thorsteinsdottir U, Kronenberg F, Vollmert C, Illig T, Fox CS, Levy D, Laird N, Ding X, McQueen MB, Butler J, Ardlie K, Papoutsakis C, Dedoussis G, O'Donnell CJ, Wichmann HE, Celedón JC, Schadt E, Hirschhorn J, Weiss ST, Stefansson K, Lange C. On the replication of genetic associations: timing can be everything! Am J Hum Genet. 2008 Apr; 82(4):849-58.
  161. 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. N Engl J Med. 2008 Mar 20; 358(12):1240-9.
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  163. 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 Epidemiol Biomarkers Prev. 2008 Feb; 17(2):393-6.
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  167. 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. 2008 Apr; 57(4):1125-30.
  168. 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 Med Genet. 2007; 8:72.
  169. Montgomery RK, Krasinski SD, Hirschhorn JN, Grand RJ. Lactose and lactase--who is lactose intolerant and why? J Pediatr Gastroenterol Nutr. 2007 Dec; 45 Suppl 2:S131-7.
  170. 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, Nemesh J, Arbeitman L, Goldstein DB, Reich D, Hirschhorn JN. Discerning the ancestry of European Americans in genetic association studies. PLoS Genet. 2008 Jan; 4(1):e236.
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  174. 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. 2007 Sep 4; 116(10):1128-36.
  175. 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, Fraumeni JF, Freimer NB, Gerhard DS, Gunter C, Guttmacher AE, Guyer MS, Harris EL, Hoh J, Hoover R, Kong CA, Merikangas KR, Morton CC, Palmer LJ, Phimister EG, Rice JP, Roberts J, Rotimi C, Tucker MA, Vogan KJ, Wacholder S, Wijsman EM, Winn DM, Collins FS. Replicating genotype-phenotype associations. Nature. 2007 Jun 7; 447(7145):655-60.
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  179. 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, Florez JC, Meyer J, Ardlie K, Bengtsson Boström K, Isomaa B, Lettre G, Lindblad U, Lyon HN, Melander O, Newton-Cheh C, Nilsson P, Orho-Melander M, Råstam L, Speliotes EK, Taskinen MR, Tuomi T, Guiducci C, Berglund A, Carlson J, Gianniny L, Hackett R, Hall L, Holmkvist J, Laurila E, Sjögren M, Sterner M, Surti A, Svensson M, Svensson M, Tewhey R, Blumenstiel B, Parkin M, Defelice M, Barry R, Brodeur W, Camarata J, Chia N, Fava M, Gibbons J, Handsaker B, Healy C, Nguyen K, Gates C, Sougnez C, Gage D, Nizzari M, Gabriel SB, Chirn GW, Ma Q, Parikh H, Richardson D, Ricke D, Purcell S. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 2007 Jun 1; 316(5829):1331-6.
  180. 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. 2007 Jun; 50(6):1209-17.
  181. 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, Benjamin EJ. Vascular stiffness and genetic variation at the endothelial nitric oxide synthase locus: the Framingham Heart study. Hypertension. 2007 Jun; 49(6):1285-90.
  182. 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, Meitinger T, Brönner G, Rief W, Soto-Quiros ME, Avila L, Klanderman B, Raby BA, Silverman EK, Weiss ST, Laird N, Ding X, Groop L, Tuomi T, Isomaa B, Bengtsson K, Butler JL, Cooper RS, Fox CS, O'Donnell CJ, Vollmert C, Celedón JC, Wichmann HE, Hebebrand J, Stefansson K, Lange C, Hirschhorn JN. 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.
  183. 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. 2007 Mar; 56(3):675-84.
  184. 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, Daly MJ, Frayling TM, Groop L, Altshuler D. 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.
  185. 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, Clavel-Chapelon F, Colditz GA, Cox DG, Feigelson HS, Hankinson SE, Hayes RB, Henderson BE, Hirschhorn JN, Hoover R, Hunter DJ, Kaaks R, Kolonel LN, Le Marchand L, Lenner P, Lund E, Panico S, Peeters PH, Pike MC, Riboli E, Tjonneland A, Travis R, Trichopoulos D, Wacholder S, Ziegler RG. Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women. Cancer Res. 2007 Mar 1; 67(5):1893-7.
  186. 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. 2007 May; 56(5):1460-7.
  187. 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. 2007 Apr; 49(4):846-56.
  188. Setiawan VW, Cheng I, Stram DO, Giorgi E, Pike MC, Van Den Berg D, Pooler L, Burtt NP, Le Marchand L, Altshuler D, Hirschhorn J, Henderson BE, Haiman CA. A systematic assessment of common genetic variation in CYP11A and risk of breast cancer. Cancer Res. 2006 Dec 15; 66(24):12019-25.
  189. 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. 2006 Dec; 55(12):3620-4.
  190. 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. Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity. Diabetes. 2006 Nov; 55(11):3180-4.
  191. 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, Zhu X, Cooper R, Groop L, Kolonel LN, Henderson BE, Daly MJ, Hirschhorn JN, Altshuler D. Transferability of tag SNPs in genetic association studies in multiple populations. Nat Genet. 2006 Nov; 38(11):1298-303.
  192. 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, Groop LC, Altshuler D. 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.
  193. Cheng I, Penney KL, Stram DO, Le Marchand L, Giorgi E, Haiman CA, Kolonel LN, Pike M, Hirschhorn J, Henderson BE, Freedman ML. 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.
  194. 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. Eur J Endocrinol. 2006 Jul; 155(1):121-6.
  195. 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. 2006 Jun 13; 113(23):2697-705.
  196. 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. Am J Hum Genet. 2006 Jul; 79(1):54-61.
  197. 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 Genet. 2006; 7:30.
  198. 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, Wichmann HE, Marbán E, O'Donnell CJ, Hirschhorn JN, Kääb S, Spooner PM, Meitinger T, Chakravarti A. A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet. 2006 Jun; 38(6):644-51.
  199. 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, Cooper R, Ardlie K, Lyon H, Hirschhorn JN, Laird NM, Lenburg ME, Lange C, Christman MF. A common genetic variant is associated with adult and childhood obesity. Science. 2006 Apr 14; 312(5771):279-83.
  200. 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. Arterioscler Thromb Vasc Biol. 2006 Jun; 26(6):1405-12.
  201. 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. 2006 Mar 21; 113(11):1415-23.
  202. Sun MW, Lee JY, de Bakker PI, Burtt NP, Almgren P, Råstam 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. 2006 Mar; 55(3):849-55.
  203. 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, Clavel-Chapelon F, Colditz G, Diver WR, Freedman ML, Haiman CA, Hankinson SE, Hayes RB, Hirschhorn JN, Hunter D, Kolonel LN, Kraft P, LeMarchand L, Linseisen J, Modi W, Navarro C, Peeters PH, Pike MC, Riboli E, Setiawan VW, Stram DO, Thomas G, Thun MJ, Tjonneland A, Trichopoulos D. 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.
  204. Cheng I, Stram DO, Penney KL, Pike M, Le Marchand L, Kolonel LN, Hirschhorn J, Altshuler D, Henderson BE, Freedman ML. Common genetic variation in IGF1 and prostate cancer risk in the Multiethnic Cohort. J Natl Cancer Inst. 2006 Jan 18; 98(2):123-34.
  205. Setiawan VW, Cheng I, Stram DO, Penney KL, Le Marchand L, Altshuler D, Kolonel LN, Hirschhorn J, Henderson BE, Freedman ML. Igf-I genetic variation and breast cancer: the multiethnic cohort. Cancer Epidemiol Biomarkers Prev. 2006 Jan; 15(1):172-4.
  206. 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. 2006 Jan; 55(1):128-35.
  207. 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. Nat Genet. 2006 Feb; 38(2):223-7.
  208. Hunter DJ, Riboli E, Haiman CA, Albanes D, Altshuler D, Chanock SJ, Haynes RB, Henderson BE, Kaaks R, Stram DO, Thomas G, Thun MJ, Blanché H, Buring JE, Burtt NP, Calle EE, Cann H, Canzian F, Chen YC, Colditz GA, Cox DG, Dunning AM, Feigelson HS, Freedman ML, Gaziano JM, Giovannucci E, Hankinson SE, Hirschhorn JN, Hoover RN, Key T, Kolonel LN, Kraft P, Le Marchand L, Liu S, Ma J, Melnick S, Pharaoh P, Pike MC, Rodriguez C, Setiawan VW, Stampfer MJ, Trapido E, Travis R, Virtamo J, Wacholder S, Willett WC. A candidate gene approach to searching for low-penetrance breast and prostate cancer genes. Nat Rev Cancer. 2005 Dec; 5(12):977-85.
  209. 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, Chen YC, Crawford DE, Dunning AM, Feigelson HS, Freedman ML, Gaziano JM, Giovannucci E, Gonzalez CA, Haiman CA, Hallmans G, Henderson BE, Hirschhorn JN, Hunter DJ, Kaaks R, Key T, Le Marchand L, Ma J, Overvad K, Palli D, Pike MC, Riboli E, Rodriguez C, Setiawan WV, Stampfer MJ, Stram DO, Thomas G, Thun MJ, Travis R, Trichopoulou A, Virtamo J, Wacholder S. Genetic variation in the HSD17B1 gene and risk of prostate cancer. PLoS Genet. 2005 Nov; 1(5):e68.
  210. 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. 2005 Sep 20; 112(12):1728-35.
  211. 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. 2005 Sep 6; 112(10):1419-27.
  212. 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. 2005 Aug 23; 112(8):1113-20.
  213. 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. 2005 Aug; 54(8):2336-42.
  214. 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. Nat Genet. 2005 Aug; 37(8):868-72.
  215. Lyon HN, Hirschhorn JN. Genetics of common forms of obesity: a brief overview. Am J Clin Nutr. 2005 Jul; 82(1 Suppl):215S-217S.
  216. Newton-Cheh C, Hirschhorn JN. Genetic association studies of complex traits: design and analysis issues. Mutat Res. 2005 Jun 3; 573(1-2):54-69.
  217. Florez JC, Agapakis CM, Burtt NP, Sun M, Almgren P, Råstam 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. 2005 Jun; 54(6):1884-91.
  218. Hirschhorn JN. Genetic approaches to studying common diseases and complex traits. Pediatr Res. 2005 May; 57(5 Pt 2):74R-77R.
  219. Altshuler D, Hirschhorn JN. MEF2A sequence variants and coronary artery disease: a change of heart? J Clin Invest. 2005 Apr; 115(4):831-3.
  220. 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. 2005 Mar; 54(3):886-92.
  221. Hirschhorn JN. Genetic and genomic approaches to studying stature and pubertal timing. Pediatr Endocrinol Rev. 2005 Feb; 2 Suppl 3:351-4.
  222. Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits. Nat Rev Genet. 2005 Feb; 6(2):95-108.
  223. 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. J Natl Cancer Inst. 2005 Jan 5; 97(1):51-9.
  224. 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, Groop L. 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.
  225. Goldstein DB, Hirschhorn JN. In genetic control of disease, does 'race' matter? Nat Genet. 2004 Dec; 36(12):1243-4.
  226. 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. Am J Hum Genet. 2005 Jan; 76(1):82-90.
  227. 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. J Clin Endocrinol Metab. 2005 Feb; 90(2):1091-9.
  228. 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. Hum Mol Genet. 2004 Oct 15; 13(20):2431-41.
  229. 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. 2004 May; 53(5):1360-8.
  230. 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. Am J Hum Genet. 2004 Jun; 74(6):1111-20.
  231. Pagan YL, Hirschhorn J, Yang B, D'Souza-Li L, Majzoub JA, Hendy GN. 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.
  232. 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, Henderson B, Hirschhorn JN, Altshuler D. Assessing the impact of population stratification on genetic association studies. Nat Genet. 2004 Apr; 36(4):388-93.
  233. Palmert MR, Hirschhorn JN. Genetic approaches to stature, pubertal timing, and other complex traits. Mol Genet Metab. 2003 Sep-Oct; 80(1-2):1-10.
  234. Haiman CA, Stram DO, Pike MC, Kolonel LN, Burtt NP, Altshuler D, Hirschhorn J, Henderson BE. A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort. Hum Mol Genet. 2003 Oct 15; 12(20):2679-92.
  235. Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, Puigserver P, Carlsson E, Ridderstråle M, Laurila E, Houstis N, Daly MJ, Patterson N, Mesirov JP, Golub TR, Tamayo P, Spiegelman B, Lander ES, Hirschhorn JN, Altshuler D, Groop LC. PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet. 2003 Jul; 34(3):267-73.
  236. Hirschhorn JN. Genetic epidemiology of type 1 diabetes. Pediatr Diabetes. 2003 Jun; 4(2):87-100.
  237. Grand RJ, Montgomery RK, Chitkara DK, Hirschhorn JN. Changing genes; losing lactase. Gut. 2003 May; 52(5):617-9.
  238. 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. Nat Genet. 2003 Feb; 33(2):177-82.
  239. 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. Hum Hered. 2003; 55(1):27-36.
  240. Florez JC, Hirschhorn J, Altshuler D. The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits. Annu Rev Genomics Hum Genet. 2003; 4:257-91.
  241. 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. Hum Hered. 2003; 55(4):179-90.
  242. Sedlmeyer IL, Hirschhorn JN, Palmert MR. 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.
  243. Cowles CR, Hirschhorn JN, Altshuler D, Lander ES. Detection of regulatory variation in mouse genes. Nat Genet. 2002 Nov; 32(3):432-7.
  244. Hirschhorn JN, Altshuler D. Once and again-issues surrounding replication in genetic association studies. J Clin Endocrinol Metab. 2002 Oct; 87(10):4438-41.
  245. 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, Hudson TJ. 5' flanking variants of resistin are associated with obesity. Diabetes. 2002 May; 51(5):1629-34.
  246. Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K. A comprehensive review of genetic association studies. Genet Med. 2002 Mar-Apr; 4(2):45-61.
  247. 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. Am J Hum Genet. 2001 Jul; 69(1):106-16.
  248. 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. Proc Natl Acad Sci U S A. 2000 Oct 24; 97(22):12164-9.
  249. 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, Lander ES. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet. 2000 Sep; 26(1):76-80.
  250. 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, Patil N, Hudson TJ, Lander ES. Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse. Nat Genet. 2000 Apr; 24(4):381-6.
  251. Altshuler D, Hirschhorn JN. Upsetting the balance: VGF and the regulation of body weight. Neuron. 1999 Jul; 23(3):415-7.
  252. 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. Mol Cell Biol. 1995 Apr; 15(4):1999-2009.
  253. Hirschhorn JN, Brown SA, Clark CD, Winston F. Evidence that SNF2/SWI2 and SNF5 activate transcription in yeast by altering chromatin structure. Genes Dev. 1992 Dec; 6(12A):2288-98.
  254. Hirschhorn JN, Winston F. 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.
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