Research Funding

  • September 7, 2015 - August 31, 2021 - Pharmacogenomics of Statin Therapy , Co-Investigator . Sponsor: NIH, Sponsor Award ID: P50GM115318
  • September 30, 2009 - August 31, 2012 - A Resource for Genetic Epidemiology Research in Adult Health and Aging , Principal Investigator . Sponsor: NIH, Sponsor Award ID: RC2AG036607
  • April 1, 2000 - July 14, 2010 - Pharmacogenetics of Membrane Transporters , Co-Investigator . Sponsor: NIH, Sponsor Award ID: U01GM061390
  • April 1, 1998 - February 28, 2010 - Linkage Disequilibrium and Human Genetic Studies , Co-Investigator . Sponsor: NIH, Sponsor Award ID: P01GM057672

Education

California Institute of Technology, BS, 1972, Mathematics
Univ of Illinois at Urbana, MS, 1973, Mathematics
Univ of California, Los Angeles, PhD, 1979, Biomathematics

Honors & Awards

  • 1972
    University Fellow, University of Illinois
  • 1974
    UCLA Regents Fellow
  • 1978
    UCLA University Fellow
  • 1987
    NIH Research Career Development Award
  • 1987
    American Mental Health Fund Research Award
  • 1993
    Honorary Master of Arts Degree, Yale University
  • 2004
    Curt Stern Award, Amer Society of Human Genetics
  • 2005
    First Interviewee, PLoS Genetics

Selected Publications

  1. Hoffmann TJ, Lu M, Oni-Orisan A, Lee C, Risch N, Iribarren C. A large genome-wide association study of QT interval length utilizing electronic health records. Genetics. 2022 11 30; 222(4).  View on PubMed
  2. Oni-Orisan A, Haldar T, Cayabyab MAS, Ranatunga DK, Hoffmann TJ, Iribarren C, Krauss RM, Risch N. Polygenic Risk Score and Statin Relative Risk Reduction for Primary Prevention of Myocardial Infarction in a Real-World Population. Clin Pharmacol Ther. 2022 11; 112(5):1070-1078.  View on PubMed
  3. Haldar T, Oni-Orisan A, Hoffmann TJ, Schaefer C, Iribarren C, Krauss RM, Medina MW, Risch N. Modest effect of statins on fasting glucose in a longitudinal electronic health record based cohort. Cardiovasc Diabetol. 2022 07 14; 21(1):132.  View on PubMed
  4. Collins R, Balaconis MK, Brunak S, Chen Z, De Silva M, Gaziano JM, Ginsburg GS, Jha P, Kuri P, Metspalu A, Mulder N, Risch N. Global priorities for large-scale biomarker-based prospective cohorts. Cell Genom. 2022 Jun 08; 2(6):100141.  View on PubMed
  5. Palmer DS, Howrigan DP, Chapman SB, Adolfsson R, Bass N, Blackwood D, Boks MPM, Chen CY, Churchhouse C, Corvin AP, Craddock N, Curtis D, Di Florio A, Dickerson F, Freimer NB, Goes FS, Jia X, Jones I, Jones L, Jonsson L, Kahn RS, Land?n M, Locke AE, McIntosh AM, McQuillin A, Morris DW, O'Donovan MC, Ophoff RA, Owen MJ, Pedersen NL, Posthuma D, Reif A, Risch N, Schaefer C, Scott L, Singh T, Smoller JW, Solomonson M, Clair DS, Stahl EA, Vreeker A, Walters JTR, Wang W, Watts NA, Yolken R, Zandi PP, Neale BM. Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia. Nat Genet. 2022 05; 54(5):541-547.  View on PubMed
  6. Norstad M, Outram S, Brown JEH, Zamora AN, Koenig BA, Risch N, Norton ME, Slavotinek A, Ackerman SL. The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics research. Genet Med. 2022 02; 24(2):410-418.  View on PubMed
  7. Mantri N, Lu M, Zaroff JG, Risch N, Hoffmann T, Oni-Orisan A, Lee C, Jorgenson E, Iribarren C. QT Interval Dynamics and Cardiovascular Outcomes: A Cohort Study in an Integrated Health Care Delivery System. J Am Heart Assoc. 2021 10 05; 10(19):e018513.  View on PubMed
  8. Mantri N, Lu M, Zaroff JG, Risch N, Hoffmann T, Oni-Orisan A, Lee C, Iribarren C. Torsade de pointes: A nested case-control study in an integrated healthcare delivery system. Ann Noninvasive Electrocardiol. 2022 01; 27(1):e12888.  View on PubMed
  9. Jia X, Goes FS, Locke AE, Palmer D, Wang W, Cohen-Woods S, Genovese G, Jackson AU, Jiang C, Kvale M, Mullins N, Nguyen H, Pirooznia M, Rivera M, Ruderfer DM, Shen L, Thai K, Zawistowski M, Zhuang Y, Abecasis G, Akil H, Bergen S, Burmeister M, Chapman S, DelaBastide M, Jur?us A, Kang HM, Kwok PY, Li JZ, Levy SE, Monson ET, Moran J, Sobell J, Watson S, Willour V, Z?llner S, Adolfsson R, Blackwood D, Boehnke M, Breen G, Corvin A, Craddock N, DiFlorio A, Hultman CM, Landen M, Lewis C, McCarroll SA, Richard McCombie W, McGuffin P, McIntosh A, McQuillin A, Morris D, Myers RM, O'Donovan M, Ophoff R, Boks M, Kahn R, Ouwehand W, Owen M, Pato C, Pato M, Posthuma D, Potash JB, Reif A, Sklar P, Smoller J, Sullivan PF, Vincent J, Walters J, Neale B, Purcell S, Risch N, Schaefer C, Stahl EA, Zandi PP, Scott LJ. Correction: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder. Mol Psychiatry. 2021 Sep; 26(9):5251.  View on PubMed
  10. Lu B, Sun L, Seraydarian M, Hoffmann TJ, Medina MW, Risch N, Iribarren C, Krauss RM, Oni-Orisan A. Effect of SLCO1B1 T521C on Statin-Related Myotoxicity With Use of Lovastatin and Atorvastatin. Clin Pharmacol Ther. 2021 09; 110(3):733-740.  View on PubMed
  11. Veturi Y, Lucas A, Bradford Y, Hui D, Dudek S, Theusch E, Verma A, Miller JE, Kullo I, Hakonarson H, Sleiman P, Schaid D, Stein CM, Edwards DRV, Feng Q, Wei WQ, Medina MW, Krauss RM, Hoffmann TJ, Risch N, Voight BF, Rader DJ, Ritchie MD. A unified framework identifies new links between plasma lipids and diseases from electronic medical records across large-scale cohorts. Nat Genet. 2021 07; 53(7):972-981.  View on PubMed
  12. Nussbaum RL, Slotnick RN, Risch NJ. Challenges in providing residual risks in carrier testing. Prenat Diagn. 2021 Aug; 41(9):1049-1056.  View on PubMed
  13. Jia X, Goes FS, Locke AE, Palmer D, Wang W, Cohen-Woods S, Genovese G, Jackson AU, Jiang C, Kvale M, Mullins N, Nguyen H, Pirooznia M, Rivera M, Ruderfer DM, Shen L, Thai K, Zawistowski M, Zhuang Y, Abecasis G, Akil H, Bergen S, Burmeister M, Chapman S, DelaBastide M, Jur?us A, Kang HM, Kwok PY, Li JZ, Levy SE, Monson ET, Moran J, Sobell J, Watson S, Willour V, Z?llner S, Adolfsson R, Blackwood D, Boehnke M, Breen G, Corvin A, Craddock N, DiFlorio A, Hultman CM, Landen M, Lewis C, McCarroll SA, Richard McCombie W, McGuffin P, McIntosh A, McQuillin A, Morris D, Myers RM, O'Donovan M, Ophoff R, Boks M, Kahn R, Ouwehand W, Owen M, Pato C, Pato M, Posthuma D, Potash JB, Reif A, Sklar P, Smoller J, Sullivan PF, Vincent J, Walters J, Neale B, Purcell S, Risch N, Schaefer C, Stahl EA, Zandi PP, Scott LJ. Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder. Mol Psychiatry. 2021 09; 26(9):5239-5250.  View on PubMed
  14. Jorgenson E, Choquet H, Yin J, Hoffmann TJ, Banda Y, Kvale MN, Risch N, Schaefer C, Asgari MM. Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations. Commun Biol. 2020 12 14; 3(1):765.  View on PubMed
  15. Emami NC, Cavazos TB, Rashkin SR, Cario CL, Graff RE, Tai CG, Mefford JA, Kachuri L, Wan E, Wong S, Aaronson D, Presti J, Habel LA, Shan J, Ranatunga DK, Chao CR, Ghai NR, Jorgenson E, Sakoda LC, Kvale MN, Kwok PY, Schaefer C, Risch N, Hoffmann TJ, Van Den Eeden SK, Witte JS. A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility. Cancer Res. 2021 04 01; 81(7):1695-1703.  View on PubMed
  16. Sieh W, Rothstein JH, Klein RJ, Alexeeff SE, Sakoda LC, Jorgenson E, McBride RB, Graff RE, McGuire V, Achacoso N, Acton L, Liang RY, Lipson JA, Rubin DL, Yaffe MJ, Easton DF, Schaefer C, Risch N, Whittemore AS, Habel LA. Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk. Nat Commun. 2020 10 09; 11(1):5116.  View on PubMed
  17. Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou Y, Koenig BA, Kwok PY, Risch N, Puck JM, Brenner SE. The role of exome sequencing in newborn screening for inborn errors of metabolism. Nat Med. 2020 09; 26(9):1392-1397.  View on PubMed
  18. Nandakumar P, Lee D, Hoffmann TJ, Ehret GB, Arking D, Ranatunga D, Li M, Grove ML, Boerwinkle E, Schaefer C, Kwok PY, Iribarren C, Risch N, Chakravarti A. Analysis of putative cis-regulatory elements regulating blood pressure variation. Hum Mol Genet. 2020 07 21; 29(11):1922-1932.  View on PubMed
  19. Choquet H, Thai KK, Jiang C, Ranatunga DK, Hoffmann TJ, Go AS, Lindsay AC, Ehm MG, Waterworth DM, Risch N, Schaefer C. Meta-Analysis of 26 638 Individuals Identifies Two Genetic Loci Associated With Left Ventricular Ejection Fraction. Circ Genom Precis Med. 2020 08; 13(4):e002804.  View on PubMed
  20. Choquet H, Melles RB, Yin J, Hoffmann TJ, Thai KK, Kvale MN, Banda Y, Hardcastle AJ, Tuft SJ, Glymour MM, Schaefer C, Risch N, Nair KS, Hysi PG, Jorgenson E. A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness. Commun Biol. 2020 06 11; 3(1):301.  View on PubMed

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