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profileRicha Saxena, Ph.D.

TitleAssociate Professor of Anaesthesia
InstitutionMassachusetts General Hospital
DepartmentAnaesthesia
AddressMassachusetts General Hospital
Simches Research Ctr CPZN# 6720
185 Cambridge St
Boston MA 02114
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Collapse Research 
Collapse research activities and funding
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
R01DK107859     (SAXENA, RICHA)Jul 1, 2016 - May 31, 2021
NIH/NIDDK
Genetics of chronotype and impact on metabolic disease
Role: Principal Investigator

R01DK105072     (SAXENA, RICHA)Jun 1, 2016 - May 31, 2021
NIH/NIDDK
Impact of malatonin, food timing and receptor variant on type 2 diabetes risk
Role: Principal Investigator

R01DK102696     (SCHEER, FRANK A)Aug 19, 2015 - May 31, 2020
NIH/NIDDK
Melatonin and Receptor Gene Variant: Linking Circadian System and Type 2 Diabetes
Role: Principal Investigator

R21HL121728     (SAXENA, RICHA)Aug 1, 2014 - Apr 30, 2016
NIH/NHLBI
Discovery of genes for sleep traits
Role: Principal Investigator

R21DK089378     (SAXENA, RICHA)Sep 10, 2010 - Aug 31, 2012
NIH/NIDDK
Impact of MTNR1B and CRY2 variants on sleep circadian physiology and metabolism
Role: Principal Investigator

Collapse Bibliographic 
Collapse selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Cain SW, Chang AM, Vlasac I, Tare A, Anderson C, Czeisler CA, Saxena R. Circadian Rhythms in Plasma Brain-derived Neurotrophic Factor Differ in Men and Women. J Biol Rhythms. 2017 Feb; 32(1):75-82. PMID: 28326910.
    View in: PubMed
  2. Saxena R, Plenge RM, Bjonnes AC, Dashti HS, Okada Y, Gad El Haq W, Hammoudeh M, Al Emadi S, Masri BK, Halabi H, Badsha H, Uthman IW, Margolin L, Gupta N, Mahfoud ZR, Kapiri M, Dargham SR, Aranki G, Kazkaz LA, Arayssi T. A Multinational Arab Genome-Wide Association Study Identifies New Genetic Associations for Rheumatoid Arthritis. Arthritis Rheumatol. 2017 Jan 24. PMID: 28118524.
    View in: PubMed
  3. Pau CT, Mosbruger T, Saxena R, Welt CK. Phenotype and Tissue Expression as a Function of Genetic Risk in Polycystic Ovary Syndrome. PLoS One. 2017; 12(1):e0168870. PMID: 28068351.
    View in: PubMed
  4. Lane JM, Liang J, Vlasac I, Anderson SG, Bechtold DA, Bowden J, Emsley R, Gill S, Little MA, Luik AI, Loudon A, Scheer FA, Purcell SM, Kyle SD, Lawlor DA, Zhu X, Redline S, Ray DW, Rutter MK, Saxena R. Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits. Nat Genet. 2017 Feb; 49(2):274-281. PMID: 27992416.
    View in: PubMed
  5. Wang H, Cade BE, Chen H, Gleason KJ, Saxena R, Feng T, Larkin EK, Vasan RS, Lin H, Patel SR, Tracy RP, Liu Y, Gottlieb DJ, Below JE, Hanis CL, Petty LE, Sunyaev SR, Frazier-Wood AC, Rotter JI, Post W, Lin X, Redline S, Zhu X. Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level. Hum Mol Genet. 2016 Dec 01; 25(23):5244-5253. PMID: 27798093.
    View in: PubMed
  6. Cade BE, Chen H, Stilp AM, Gleason KJ, Sofer T, Ancoli-Israel S, Arens R, Bell GI, Below JE, Bjonnes AC, Chun S, Conomos MP, Evans DS, Johnson WC, Frazier-Wood AC, Lane JM, Larkin EK, Loredo JS, Post WS, Ramos AR, Rice K, Rotter JI, Shah NA, Stone KL, Taylor KD, Thornton TA, Tranah GJ, Wang C, Zee PC, Hanis CL, Sunyaev SR, Patel SR, Laurie CC, Zhu X, Saxena R, Lin X, Redline S. Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans. Am J Respir Crit Care Med. 2016 Oct 01; 194(7):886-897. PMID: 26977737.
    View in: PubMed
  7. Spracklen CN, Smith CJ, Saftlas AF, Triche EW, Bjonnes A, Keating BJ, Saxena R, Breheny PJ, Dewan AT, Robinson JG, Hoh J, Ryckman KK. Genetic predisposition to elevated levels of C-reactive protein is associated with a decreased risk for preeclampsia. Hypertens Pregnancy. 2017 Feb; 36(1):30-35. PMID: 27657194.
    View in: PubMed
  8. Bjonnes AC, Saxena R, Welt CK. Relationship between polycystic ovary syndrome and ancestry in European Americans. Fertil Steril. 2016 Dec; 106(7):1772-1777. PMID: 27666562.
    View in: PubMed
  9. Scott WR, Zhang W, Loh M, Tan ST, Lehne B, Afzal U, Peralta J, Saxena R, Ralhan S, Wander GS, Bozaoglu K, Sanghera DK, Elliott P, Scott J, Chambers JC, Kooner JS. Investigation of Genetic Variation Underlying Central Obesity amongst South Asians. PLoS One. 2016; 11(5):e0155478. PMID: 27195708; PMCID: PMC4873263.
  10. Eichler FS, Li J, Guo Y, Caruso PA, Bjonnes AC, Pan J, Booker JK, Lane JM, Tare A, Vlasac I, Hakonarson H, Gusella JF, Zhang J, Keating BJ, Saxena R. CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. Brain. 2016 Jun; 139(Pt 6):1666-72. PMID: 27190017; PMCID: PMC4892751 [Available on 06/01/17].
  11. Chang AM, Bjonnes AC, Aeschbach D, Buxton OM, Gooley JJ, Anderson C, Van Reen E, Cain SW, Czeisler CA, Duffy JF, Lockley SW, Shea SA, Scheer FA, Saxena R. Circadian gene variants influence sleep and the sleep electroencephalogram in humans. Chronobiol Int. 2016; 33(5):561-73. PMID: 27089043.
    View in: PubMed
  12. Liang J, Cade BE, Wang H, Chen H, Gleason KJ, Larkin EK, Saxena R, Lin X, Redline S, Zhu X. Comparison of Heritability Estimation and Linkage Analysis for Multiple Traits Using Principal Component Analyses. Genet Epidemiol. 2016 Apr; 40(3):222-32. PMID: 27027516.
    View in: PubMed
  13. Giorgi EE, Li Y, Caberto CP, Beckman KB, Lum-Jones A, Haiman CA, Le Marchand L, Stram DO, Saxena R, Cheng I. No Association between the Mitochondrial Genome and Prostate Cancer Risk: The Multiethnic Cohort. Cancer Epidemiol Biomarkers Prev. 2016 Jun; 25(6):1001-3. PMID: 27021046; PMCID: PMC4891274 [Available on 06/01/17].
  14. Lane JM, Vlasac I, Anderson SG, Kyle SD, Dixon WG, Bechtold DA, Gill S, Little MA, Luik A, Loudon A, Emsley R, Scheer FA, Lawlor DA, Redline S, Ray DW, Rutter MK, Saxena R. Genome-wide association analysis identifies novel loci for chronotype in 100,420 individuals from the UK Biobank. Nat Commun. 2016 Mar 09; 7:10889. PMID: 26955885; PMCID: PMC4786869.
  15. Lane JM, Chang AM, Bjonnes AC, Aeschbach D, Anderson C, Cade BE, Cain SW, Czeisler CA, Gharib SA, Gooley JJ, Gottlieb DJ, Grant SF, Klerman EB, Lauderdale DS, Lockley SW, Munch M, Patel S, Punjabi NM, Rajaratnam SM, Rueger M, St Hilaire MA, Santhi N, Scheuermaier K, Van Reen E, Zee PC, Shea SA, Duffy JF, Buxton OM, Redline S, Scheer FA, Saxena R. Impact of Common Diabetes Risk Variant in MTNR1B on Sleep, Circadian, and Melatonin Physiology. Diabetes. 2016 Jun; 65(6):1741-51. PMID: 26868293; PMCID: PMC4878414 [Available on 06/01/17].
  16. Imamura M, Takahashi A, Yamauchi T, Hara K, Yasuda K, Grarup N, Zhao W, Wang X, Huerta-Chagoya A, Hu C, Moon S, Long J, Kwak SH, Rasheed A, Saxena R, Ma RC, Okada Y, Iwata M, Hosoe J, Shojima N, Iwasaki M, Fujita H, Suzuki K, Danesh J, Jørgensen T, Jørgensen ME, Witte DR, Brandslund I, Christensen C, Hansen T, Mercader JM, Flannick J, Moreno-Macías H, Burtt NP, Zhang R, Kim YJ, Zheng W, Singh JR, Tam CH, Hirose H, Maegawa H, Ito C, Kaku K, Watada H, Tanaka Y, Tobe K, Kawamori R, Kubo M, Cho YS, Chan JC, Sanghera D, Frossard P, Park KS, Shu XO, Kim BJ, Florez JC, Tusié-Luna T, Jia W, Tai ES, Pedersen O, Saleheen D, Maeda S, Kadowaki T. Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes. Nat Commun. 2016 Jan 28; 7:10531. PMID: 26818947; PMCID: PMC4738362.
  17. Sapkota BR, Hopkins R, Bjonnes A, Ralhan S, Wander GS, Mehra NK, Singh JR, Blackett PR, Saxena R, Sanghera DK. Genome-wide association study of 25(OH) Vitamin D concentrations in Punjabi Sikhs: Results of the Asian Indian diabetic heart study. J Steroid Biochem Mol Biol. 2016 Apr; 158:149-56. PMID: 26704534; PMCID: PMC4769937 [Available on 04/01/17].
  18. Arble DM, Bass J, Behn CD, Butler MP, Challet E, Czeisler C, Depner CM, Elmquist J, Franken P, Grandner MA, Hanlon EC, Keene AC, Joyner MJ, Karatsoreos I, Kern PA, Klein S, Morris CJ, Pack AI, Panda S, Ptacek LJ, Punjabi NM, Sassone-Corsi P, Scheer FA, Saxena R, Seaquest ER, Thimgan MS, Van Cauter E, Wright KP. Impact of Sleep and Circadian Disruption on Energy Balance and Diabetes: A Summary of Workshop Discussions. Sleep. 2015 Dec 01; 38(12):1849-60. PMID: 26564131; PMCID: PMC4667373.
  19. Cade BE, Gottlieb DJ, Lauderdale DS, Bennett DA, Buchman AS, Buxbaum SG, De Jager PL, Evans DS, Fülöp T, Gharib SA, Johnson WC, Kim H, Larkin EK, Lee SK, Lim AS, Punjabi NM, Shin C, Stone KL, Tranah GJ, Weng J, Yaffe K, Zee PC, Patel SR, Zhu X, Redline S, Saxena R. Common variants in DRD2 are associated with sleep duration: the CARe consortium. Hum Mol Genet. 2016 Jan 01; 25(1):167-79. PMID: 26464489; PMCID: PMC4690488 [Available on 01/01/17].
  20. Day FR, Hinds DA, Tung JY, Stolk L, Styrkarsdottir U, Saxena R, Bjonnes A, Broer L, Dunger DB, Halldorsson BV, Lawlor DA, Laval G, Mathieson I, McCardle WL, Louwers Y, Meun C, Ring S, Scott RA, Sulem P, Uitterlinden AG, Wareham NJ, Thorsteinsdottir U, Welt C, Stefansson K, Laven JS, Ong KK, Perry JR. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. Nat Commun. 2015 Sep 29; 6:8464. PMID: 26416764; PMCID: PMC4598835.
  21. Kato N, Loh M, Takeuchi F, Verweij N, Wang X, Zhang W, Kelly TN, Saleheen D, Lehne B, Mateo Leach I, Drong AW, Abbott J, Wahl S, Tan ST, Scott WR, Campanella G, Chadeau-Hyam M, Afzal U, Ahluwalia TS, Bonder MJ, Chen P, Dehghan A, Edwards TL, Esko T, Go MJ, Harris SE, Hartiala J, Kasela S, Kasturiratne A, Khor CC, Kleber ME, Li H, Mok ZY, Nakatochi M, Sapari NS, Saxena R, Stewart AF, Stolk L, Tabara Y, Teh AL, Wu Y, Wu JY, Zhang Y, Aits I, Da Silva Couto Alves A, Das S, Dorajoo R, Hopewell JC, Kim YK, Koivula RW, Luan J, Lyytikäinen LP, Nguyen QN, Pereira MA, Postmus I, Raitakari OT, Scannell Bryan M, Scott RA, Sorice R, Tragante V, Traglia M, White J, Yamamoto K, Zhang Y, Adair LS, Ahmed A, Akiyama K, Asif R, Aung T, Barroso I, Bjonnes A, Braun TR, Cai H, Chang LC, Chen CH, Cheng CY, Chong YS, Collins R, Courtney R, Davies G, Delgado G, Do LD, Doevendans PA, Gansevoort RT, Gao YT, Grammer TB, Grarup N, Grewal J, Gu D, Wander GS, Hartikainen AL, Hazen SL, He J, Heng CK, Hixson JE, Hofman A, Hsu C, Huang W, Husemoen LL, Hwang JY, Ichihara S, Igase M, Isono M, Justesen JM, Katsuya T, Kibriya MG, Kim YJ, Kishimoto M, Koh WP, Kohara K, Kumari M, Kwek K, Lee NR, Lee J, Liao J, Lieb W, Liewald DC, Matsubara T, Matsushita Y, Meitinger T, Mihailov E, Milani L, Mills R, Mononen N, Müller-Nurasyid M, Nabika T, Nakashima E, Ng HK, Nikus K, Nutile T, Ohkubo T, Ohnaka K, Parish S, Paternoster L, Peng H, Peters A, Pham ST, Pinidiyapathirage MJ, Rahman M, Rakugi H, Rolandsson O, Rozario MA, Ruggiero D, Sala CF, Sarju R, Shimokawa K, Snieder H, Sparsø T, Spiering W, Starr JM, Stott DJ, Stram DO, Sugiyama T, Szymczak S, Tang WH, Tong L, Trompet S, Turjanmaa V, Ueshima H, Uitterlinden AG, Umemura S, Vaarasmaki M, van Dam RM, van Gilst WH, van Veldhuisen DJ, Viikari JS, Waldenberger M, Wang Y, Wang A, Wilson R, Wong TY, Xiang YB, Yamaguchi S, Ye X, Young RD, Young TL, Yuan JM, Zhou X, Asselbergs FW, Ciullo M, Clarke R, Deloukas P, Franke A, Franks PW, Franks S, Friedlander Y, Gross MD, Guo Z, Hansen T, Jarvelin MR, Jørgensen T, Jukema JW, Kähönen M, Kajio H, Kivimaki M, Lee JY, Lehtimäki T, Linneberg A, Miki T, Pedersen O, Samani NJ, Sørensen TI, Takayanagi R, Toniolo D, Ahsan H, Allayee H, Chen YT, Danesh J, Deary IJ, Franco OH, Franke L, Heijman BT, Holbrook JD, Isaacs A, Kim BJ, Lin X, Liu J, März W, Metspalu A, Mohlke KL, Sanghera DK, Shu XO, van Meurs JB, Vithana E, Wickremasinghe AR, Wijmenga C, Wolffenbuttel BH, Yokota M, Zheng W, Zhu D, Vineis P, Kyrtopoulos SA, Kleinjans JC, McCarthy MI, Soong R, Gieger C, Scott J, Teo YY, He J, Elliott P, Tai ES, van der Harst P, Kooner JS, Chambers JC. Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. Nat Genet. 2015 11; 47(11):1282-93. PMID: 26390057; PMCID: PMC4719169.
  22. Nikpay M, Goel A, Won HH, Hall LM, Willenborg C, Kanoni S, Saleheen D, Kyriakou T, Nelson CP, Hopewell JC, Webb TR, Zeng L, Dehghan A, Alver M, Armasu SM, Auro K, Bjonnes A, Chasman DI, Chen S, Ford I, Franceschini N, Gieger C, Grace C, Gustafsson S, Huang J, Hwang SJ, Kim YK, Kleber ME, Lau KW, Lu X, Lu Y, Lyytikäinen LP, Mihailov E, Morrison AC, Pervjakova N, Qu L, Rose LM, Salfati E, Saxena R, Scholz M, Smith AV, Tikkanen E, Uitterlinden A, Yang X, Zhang W, Zhao W, de Andrade M, de Vries PS, van Zuydam NR, Anand SS, Bertram L, Beutner F, Dedoussis G, Frossard P, Gauguier D, Goodall AH, Gottesman O, Haber M, Han BG, Huang J, Jalilzadeh S, Kessler T, König IR, Lannfelt L, Lieb W, Lind L, Lindgren CM, Lokki ML, Magnusson PK, Mallick NH, Mehra N, Meitinger T, Memon FU, Morris AP, Nieminen MS, Pedersen NL, Peters A, Rallidis LS, Rasheed A, Samuel M, Shah SH, Sinisalo J, Stirrups KE, Trompet S, Wang L, Zaman KS, Ardissino D, Boerwinkle E, Borecki IB, Bottinger EP, Buring JE, Chambers JC, Collins R, Cupples LA, Danesh J, Demuth I, Elosua R, Epstein SE, Esko T, Feitosa MF, Franco OH, Franzosi MG, Granger CB, Gu D, Gudnason V, Hall AS, Hamsten A, Harris TB, Hazen SL, Hengstenberg C, Hofman A, Ingelsson E, Iribarren C, Jukema JW, Karhunen PJ, Kim BJ, Kooner JS, Kullo IJ, Lehtimäki T, Loos RJ, Melander O, Metspalu A, März W, Palmer CN, Perola M, Quertermous T, Rader DJ, Ridker PM, Ripatti S, Roberts R, Salomaa V, Sanghera DK, Schwartz SM, Seedorf U, Stewart AF, Stott DJ, Thiery J, Zalloua PA, O'Donnell CJ, Reilly MP, Assimes TL, Thompson JR, Erdmann J, Clarke R, Watkins H, Kathiresan S, McPherson R, Deloukas P, Schunkert H, Samani NJ, Farrall M. A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. Nat Genet. 2015 Oct; 47(10):1121-30. PMID: 26343387; PMCID: PMC4589895.
  23. Li Y, Beckman KB, Caberto C, Kazma R, Lum-Jones A, Haiman CA, Le Marchand L, Stram DO, Saxena R, Cheng I. Association of Genes, Pathways, and Haplogroups of the Mitochondrial Genome with the Risk of Colorectal Cancer: The Multiethnic Cohort. PLoS One. 2015; 10(9):e0136796. PMID: 26340450; PMCID: PMC4560485.
  24. Garaulet M, Gómez-Abellán P, Rubio-Sastre P, Madrid JA, Saxena R, Scheer FA. Common type 2 diabetes risk variant in MTNR1B worsens the deleterious effect of melatonin on glucose tolerance in humans. Metabolism. 2015 Dec; 64(12):1650-7. PMID: 26440713; PMCID: PMC4856010 [Available on 12/01/16].
  25. Joshi PK, Esko T, Mattsson H, Eklund N, Gandin I, Nutile T, Jackson AU, Schurmann C, Smith AV, Zhang W, Okada Y, Stancáková A, Faul JD, Zhao W, Bartz TM, Concas MP, Franceschini N, Enroth S, Vitart V, Trompet S, Guo X, Chasman DI, O'Connel JR, Corre T, Nongmaithem SS, Chen Y, Mangino M, Ruggiero D, Traglia M, Farmaki AE, Kacprowski T, Bjonnes A, van der Spek A, Wu Y, Giri AK, Yanek LR, Wang L, Hofer E, Rietveld CA, McLeod O, Cornelis MC, Pattaro C, Verweij N, Baumbach C, Abdellaoui A, Warren HR, Vuckovic D, Mei H, Bouchard C, Perry JR, Cappellani S, Mirza SS, Benton MC, Broeckel U, Medland SE, Lind PA, Malerba G, Drong A, Yengo L, Bielak LF, Zhi D, van der Most PJ, Shriner D, Mägi R, Hemani G, Karaderi T, Wang Z, Liu T, Demuth I, Zhao JH, Meng W, Lataniotis L, van der Laan SW, Bradfield JP, Wood AR, Bonnefond A, Ahluwalia TS, Hall LM, Salvi E, Yazar S, Carstensen L, de Haan HG, Abney M, Afzal U, Allison MA, Amin N, Asselbergs FW, Bakker SJ, Barr RG, Baumeister SE, Benjamin DJ, Bergmann S, Boerwinkle E, Bottinger EP, Campbell A, Chakravarti A, Chan Y, Chanock SJ, Chen C, Chen YD, Collins FS, Connell J, Correa A, Cupples LA, Smith GD, Davies G, Dörr M, Ehret G, Ellis SB, Feenstra B, Feitosa MF, Ford I, Fox CS, Frayling TM, Friedrich N, Geller F, Scotland G, Gillham-Nasenya I, Gottesman O, Graff M, Grodstein F, Gu C, Haley C, Hammond CJ, Harris SE, Harris TB, Hastie ND, Heard-Costa NL, Heikkilä K, Hocking LJ, Homuth G, Hottenga JJ, Huang J, Huffman JE, Hysi PG, Ikram MA, Ingelsson E, Joensuu A, Johansson Å, Jousilahti P, Jukema JW, Kähönen M, Kamatani Y, Kanoni S, Kerr SM, Khan NM, Koellinger P, Koistinen HA, Kooner MK, Kubo M, Kuusisto J, Lahti J, Launer LJ, Lea RA, Lehne B, Lehtimäki T, Liewald DC, Lind L, Loh M, Lokki ML, London SJ, Loomis SJ, Loukola A, Lu Y, Lumley T, Lundqvist A, Männistö S, Marques-Vidal P, Masciullo C, Matchan A, Mathias RA, Matsuda K, Meigs JB, Meisinger C, Meitinger T, Menni C, Mentch FD, Mihailov E, Milani L, Montasser ME, Montgomery GW, Morrison A, Myers RH, Nadukuru R, Navarro P, Nelis M, Nieminen MS, Nolte IM, O'Connor GT, Ogunniyi A, Padmanabhan S, Palmas WR, Pankow JS, Patarcic I, Pavani F, Peyser PA, Pietilainen K, Poulter N, Prokopenko I, Ralhan S, Redmond P, Rich SS, Rissanen H, Robino A, Rose LM, Rose R, Sala C, Salako B, Salomaa V, Sarin AP, Saxena R, Schmidt H, Scott LJ, Scott WR, Sennblad B, Seshadri S, Sever P, Shrestha S, Smith BH, Smith JA, Soranzo N, Sotoodehnia N, Southam L, Stanton AV, Stathopoulou MG, Strauch K, Strawbridge RJ, Suderman MJ, Tandon N, Tang ST, Taylor KD, Tayo BO, Töglhofer AM, Tomaszewski M, Tšernikova N, Tuomilehto J, Uitterlinden AG, Vaidya D, van Hylckama Vlieg A, van Setten J, Vasankari T, Vedantam S, Vlachopoulou E, Vozzi D, Vuoksimaa E, Waldenberger M, Ware EB, Wentworth-Shields W, Whitfield JB, Wild S, Willemsen G, Yajnik CS, Yao J, Zaza G, Zhu X, Salem RM, Melbye M, Bisgaard H, Samani NJ, Cusi D, Mackey DA, Cooper RS, Froguel P, Pasterkamp G, Grant SF, Hakonarson H, Ferrucci L, Scott RA, Morris AD, Palmer CN, Dedoussis G, Deloukas P, Bertram L, Lindenberger U, Berndt SI, Lindgren CM, Timpson NJ, Tönjes A, Munroe PB, Sørensen TI, Rotimi CN, Arnett DK, Oldehinkel AJ, Kardia SL, Balkau B, Gambaro G, Morris AP, Eriksson JG, Wright MJ, Martin NG, Hunt SC, Starr JM, Deary IJ, Griffiths LR, Tiemeier H, Pirastu N, Kaprio J, Wareham NJ, Pérusse L, Wilson JG, Girotto G, Caulfield MJ, Raitakari O, Boomsma DI, Gieger C, van der Harst P, Hicks AA, Kraft P, Sinisalo J, Knekt P, Johannesson M, Magnusson PK, Hamsten A, Schmidt R, Borecki IB, Vartiainen E, Becker DM, Bharadwaj D, Mohlke KL, Boehnke M, van Duijn CM, Sanghera DK, Teumer A, Zeggini E, Metspalu A, Gasparini P, Ulivi S, Ober C, Toniolo D, Rudan I, Porteous DJ, Ciullo M, Spector TD, Hayward C, Dupuis J, Loos RJ, Wright AF, Chandak GR, Vollenweider P, Shuldiner AR, Ridker PM, Rotter JI, Sattar N, Gyllensten U, North KE, Pirastu M, Psaty BM, Weir DR, Laakso M, Gudnason V, Takahashi A, Chambers JC, Kooner JS, et al. Directional dominance on stature and cognition in diverse human populations. Nature. 2015 Jul 23; 523(7561):459-62. PMID: 26131930; PMCID: PMC4516141.
  26. Smith CJ, Saftlas AF, Spracklen CN, Triche EW, Bjonnes A, Keating B, Saxena R, Breheny PJ, Dewan AT, Robinson JG, Hoh J, Ryckman KK. Genetic Risk Score for Essential Hypertension and Risk of Preeclampsia. Am J Hypertens. 2016 Jan; 29(1):17-24. PMID: 26002928; PMCID: PMC4692983 [Available on 01/01/17].
  27. Saxena R, Bjonnes AC, Georgopoulos NA, Koika V, Panidis D, Welt CK. Gene variants associated with age at menopause are also associated with polycystic ovary syndrome, gonadotrophins and ovarian volume. Hum Reprod. 2015 Jul; 30(7):1697-703. PMID: 25994816; PMCID: PMC4472323 [Available on 07/01/16].
  28. Saxena R, Georgopoulos NA, Braaten TJ, Bjonnes AC, Koika V, Panidis D, Welt CK. Han Chinese polycystic ovary syndrome risk variants in women of European ancestry: relationship to FSH levels and glucose tolerance. Hum Reprod. 2015 Jun; 30(6):1454-9. PMID: 25904635; PMCID: PMC4498224 [Available on 06/01/16].
  29. Spracklen CN, Saftlas AF, Triche EW, Bjonnes A, Keating B, Saxena R, Breheny PJ, Dewan AT, Robinson JG, Hoh J, Ryckman KK. Genetic Predisposition to Dyslipidemia and Risk of Preeclampsia. Am J Hypertens. 2015 Jul; 28(7):915-23. PMID: 25523295; PMCID: PMC4542907.
  30. Dashti HS, Follis JL, Smith CE, Tanaka T, Cade BE, Gottlieb DJ, Hruby A, Jacques PF, Lamon-Fava S, Richardson K, Saxena R, Scheer FA, Kovanen L, Bartz TM, Perälä MM, Jonsson A, Frazier-Wood AC, Kalafati IP, Mikkilä V, Partonen T, Lemaitre RN, Lahti J, Hernandez DG, Toft U, Johnson WC, Kanoni S, Raitakari OT, Perola M, Psaty BM, Ferrucci L, Grarup N, Highland HM, Rallidis L, Kähönen M, Havulinna AS, Siscovick DS, Räikkönen K, Jørgensen T, Rotter JI, Deloukas P, Viikari JS, Mozaffarian D, Linneberg A, Seppälä I, Hansen T, Salomaa V, Gharib SA, Eriksson JG, Bandinelli S, Pedersen O, Rich SS, Dedoussis G, Lehtimäki T, Ordovás JM. Habitual sleep duration is associated with BMI and macronutrient intake and may be modified by CLOCK genetic variants. Am J Clin Nutr. 2015 Jan; 101(1):135-43. PMID: 25527757; PMCID: PMC4266883 [Available on 01/01/16].
  31. Saxena R, Bjonnes A, Prescott J, Dib P, Natt P, Lane J, Lerner M, Cooper JA, Ye Y, Li KW, Maubaret CG, Codd V, Brackett D, Mirabello L, Kraft P, Dinney CP, Stowell D, Peyton M, Ralhan S, Wander GS, Mehra NK, Salpea KD, Gu J, Wu X, Mangino M, Hunter DJ, De Vivo I, Humphries SE, Samani NJ, Spector TD, Savage SA, Sanghera DK. Genome-wide association study identifies variants in casein kinase II (CSNK2A2) to be associated with leukocyte telomere length in a Punjabi Sikh diabetic cohort. Circ Cardiovasc Genet. 2014 Jun; 7(3):287-95. PMID: 24795349; PMCID: PMC4106467.
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  80. 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, Rayner NW, Saxena R, Ardlie K, Tobias JH, Ness AR, Ring SM, Palmer CN, Morris AD, Peltonen L, Salomaa V, Davey Smith G, Groop LC, Hattersley AT, McCarthy MI, Hirschhorn JN, Frayling TM. A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat Genet. 2007 Oct; 39(10):1245-50. PMID: 17767157; PMCID: PMC3086278.
  81. Parikh H, Carlsson E, Chutkow WA, Johansson LE, Storgaard H, Poulsen P, Saxena R, Ladd C, Schulze PC, Mazzini MJ, Jensen CB, Krook A, Björnholm M, Tornqvist H, Zierath JR, Ridderstråle M, Altshuler D, Lee RT, Vaag A, Groop LC, Mootha VK. TXNIP regulates peripheral glucose metabolism in humans. PLoS Med. 2007 May; 4(5):e158. PMID: 17472435; PMCID: PMC1858708.
  82. 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 01; 316(5829):1331-6. PMID: 17463246.
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  83. 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. PMID: 17130512.
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  84. 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. PMID: 17065359.
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  85. 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. PMID: 17003358.
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  86. 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. PMID: 16773565; PMCID: PMC1474138.
  87. de Bakker PI, Saxena R, Graham RR. Variation in the human genome and risk to common disease. Keystone Symposium on 'Human Genome Sequence Variation and the Inherited Basis of Common Diseases'. January 8-13, Breckenridge, Colorado, USA. Pharmacogenomics. 2004 Mar; 5(2):157-61. PMID: 15016607.
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  88. Giacalone J, Delobette S, Gibaja V, Ni L, Skiadas Y, Qi R, Edington J, Lai Z, Gebauer D, Zhao H, Anantharaman T, Mishra B, Brown LG, Saxena R, Page DC, Schwartz DC. Optical mapping of BAC clones from the human Y chromosome DAZ locus. Genome Res. 2000 Sep; 10(9):1421-9. PMID: 10984460; PMCID: PMC310922.
  89. Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG, Ma P, Chen E, Hoovers JM, Page DC. Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Genomics. 2000 Aug 01; 67(3):256-67. PMID: 10936047.
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  90. Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, Reeve MP, Reijo R, Rozen S, Dinulos MB, Disteche CM, Page DC. The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nat Genet. 1996 Nov; 14(3):292-9. PMID: 8896558.
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  91. Ho CY, Otterud B, Legare RD, Varvil T, Saxena R, DeHart DB, Kohler SE, Aster JC, Dowton SB, Li FP, Leppert M, Gilliland DG. Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2. Blood. 1996 Jun 15; 87(12):5218-24. PMID: 8652836.
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  92. Saxena R, Shaw GL, Relling MV, Frame JN, Moir DT, Evans WE, Caporaso N, Weiffenbach B. Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotype. Hum Mol Genet. 1994 Jun; 3(6):923-6. PMID: 7951238.
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